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122 The Best Genetics Research Topics For Projects

The study of genetics takes place across different levels of the education system in academic facilities all around the world. It is an academic discipline that seeks to explain the mechanism of heredity and genes in living organisms. First discovered back in the 1850s, the study of genetics has come a pretty long way, and it plays such an immense role in our everyday lives. Therefore, when you are assigned a genetics research paper, you should pick a topic that is not only interesting to you but one that you understand well.

Choosing Research Topics in Genetics

Even for the most knowledgeable person in the room, choosing a genetics topic for research papers can be, at times, a hectic experience. So we put together a list of some of the most exciting top in genetics to make the endeavor easier for you. However, note, while all the topics we’ve listed below will enable you to write a unique genetic project, remember what you choose can make or break your paper. So again, select a topic that you are both interested and knowledgeable on, and that has plenty of research materials to use. Without further ado, check out the topics below.

Interesting Genetics Topics for your Next Research Paper

• Genes and DNA: write a beginners’ guide to genetics and its applications
• Factors that contribute or/and cause genetic mutations
• Genetics and obesity, what do you need to know?
• Describe RNA information
• Is there a possibility of the genetic code being confidential?
• Are there any living cells present in the gene?
• Cancer and genetics
• Describe the role of genetics in the fight against Alzheimer’s disease
• What is the gene
• Is there a link between genetics and Parkinson’s disease? Explain your answer.
• Replacement of genes and artificial chromosomes
• Explain genetic grounds for obesity
• Development and disease; how can genetics dissect the developing process
• Analyzing gene expression – RNA
• Gene interaction; eye development
• Advances and developments in nanotechnology to enable therapeutic methods for the treatment of HIV and AIDS.
• Isolating and identifying the cancer treatment activity of special organic metal compounds.
• Analyzing the characteristics in certain human genes that can withstand heavy metals.
• A detailed analysis of genotypes that is both sensitive and able to endure heavy metals.
• Isolating special growth-inducing bacteria that can assist crops during heavy metal damage and identifying lipid directing molecules for escalating heavy metal endurance in plants.

Hot and Controversial Topics in Genetics

• Is there a link between genetics and homosexuality? Explain your answer
• Is it ethical and morally upright to grow human organs
• Can DNA changes beat aging
• The history and development of human cloning science
• How addictive substances alter our genes
• Are genetically modified foods safe for human and animal consumption?
• Is depression a genetically based condition?
• Genetic diagnosis of the fetus
• Genetic analysis of the DNA structure
• What impact does cloning have on future generations?
• What is the link between genetics and autism?
• Can artificial insemination have any sort of genetic impact on a person?
• The advancements in genetic research and the bioethics that come with them.
• Is human organ farming a possibility today?
• Can genetics allow us to design and build a human to our specifications?
• Is it ethical to try and tamper with human genetics in any way?

Molecular Genetics Topics

• Molecular techniques: How to analyze DNA(including genomes), RNA as well as proteins
• Stem cells describe their potential and shortcomings
• Describe molecular and genome evolution
• Describe DNA as the agent of heredity
• Explain the power of targeted mutagenesis
• Bacteria as a genetic system
• Explain how genetic factors increase cancer susceptibility
• Outline and describe recent advances in molecular cancer genetics
• Does our DNA sequencing have space for more?
• Terminal illness and DNA.
• Does our DNA determine our body structure?
• What more can we possibly discover about DNA?

Genetic Engineering Topics

• Define gene editing, and outline key gene-editing technologies, explaining their impact on genetic engineering
• The essential role the human microbiome plays in preventing diseases
• The principles of genetic engineering
• Project on different types of cloning
• What is whole genome sequencing
• Explain existing studies on DNA-modified organisms
• How cloning can impact medicine
• Does our genetics hold the key to disease prevention?
• Can our genetics make us resistant to certain bacteria and viruses?
• Why our genetics plays a role in chronic degenerative diseases.
• Is it possible to create an organism in a controlled environment with genetic engineering?
• Would cloning lead to new advancements in genetic research?
• Is there a possibility to enhance human DNA?
• Why do we share DNA with so many other animals on the planet?
• Is our DNA still evolving or have reached our biological limit?
• Can human DNA be manipulated on a molecular or atomic level?
• Do we know everything there is to know about our DNA, or is there more?

Controversial Human Genetic Topics

• Who owns the rights to the human genome
• Is it legal for parents to order genetically perfect children
• is genetic testing necessary
• What is your stand on artificial insemination vs. ordinary pregnancy
• Do biotech companies have the right to patent human genes
• Define the scope of the accuracy of genetic testing
• Perks of human genetic engineering
• Write about gene replacement and its relationship to artificial chromosomes.
• Analyzing DNA and cloning
• DNA isolation and nanotechnology methods to achieve it.
• Genotyping of African citizens.
• Greatly mutating Y-STRs and the isolated study of their genetic variation.
• The analytical finding of indels and their genetic diversity.

DNA Research Paper Topics

The role and research of DNA are so impactful today that it has a significant effect on our daily lives today. From health care to medication and ethics, over the last few decades, our knowledge of DNA has experienced a lot of growth. A lot has been discovered from the research of DNA and genetics.

Therefore, writing a good research paper on DNA is quite the task today. Choosing the right topic can make things a lot easier and interesting for writing your paper. Also, make sure that you have reliable resources before you begin with your paper.

• Can we possibly identify and extract dinosaur DNA?
• Is the possibility of cloning just around the corner?
• Is there a connection between the way we behave and our genetic sequence?
• DNA research and the environment we live in.
• Does our DNA sequencing have something to do with our allergies?
• The connection between hereditary diseases and our DNA.
• The new perspectives and complications that DNA can give us.
• Is DNA the reason all don’t have similar looks?
• How complex human DNA is.
• Is there any sort of connection between our DNA and cancer susceptibility and resistance?
• What components of our DNA affect our decision-making and personality?
• Is it possible to create DNA from scratch under the right conditions?
• Why is carbon such a big factor in DNA composition?
• Why is RNA something to consider in viral research and its impact on human DNA?
• Can we detect defects in a person’s DNA before they are born?

Genetics Topics For Presentation

The subject of genetics can be quite broad and complex. However, choosing a topic that you are familiar with and is unique can be beneficial to your presentation. Genetics plays an important part in biology and has an effect on everyone, from our personal lives to our professional careers.

Below are some topics you can use to set up a great genetics presentation. It helps to pick a topic that you find engaging and have a good understanding of. This helps by making your presentation clear and concise.

• Can we create an artificial gene that’s made up of synthetic chromosomes?
• Is cloning the next step in genetic research and engineering?
• The complexity and significance of genetic mutation.
• The unlimited potential and advantages of human genetics.
• What can the analysis of an individual’s DNA tell us about their genetics?
• Is it necessary to conduct any form of genetic testing?
• Is it ethical to possibly own a patent to patent genes?
• How accurate are the results of a genetics test?
• Can hereditary conditions be isolated and eliminated with genetic research?
• Can genetically modified food have an impact on our genetics?
• Can genetics have a role to play in an individual’s sexuality?
• The advantages of further genetic research.
• The pros and cons of genetic engineering.
• The genetic impact of terminal and neurological diseases.

Biotechnology Topics For Research Papers

As we all know, the combination of biology and technology is a great subject. Biotechnology still offers many opportunities for eager minds to make innovations. Biotechnology has a significant role in the development of modern technology.

Below you can find some interesting topics to use in your next biotechnology research paper. Make sure that your sources are reliable and engage both you and the reader.

• Settlements that promote sustainable energy technology maintenance.
• Producing ethanol through molasses emission treatment.
• Evapotranspiration and its different processes.
• Circular biotechnology and its widespread framework.
• Understanding the genes responsible for flora response to harsh conditions.
• Molecule signaling in plants responding to dehydration and increased sodium.
• The genetic improvement of plant capabilities in major crop yielding.
• Pharmacogenomics on cancer treatment medication.
• Pharmacogenomics on hypertension treating medication.
• The uses of nanotechnology in genotyping.
• How we can quickly detect and identify food-connected pathogens using molecular-based technology.
• The impact of processing technology both new and traditional on bacteria cultures linked to Aspalathus linearis.
• A detailed analysis of adequate and renewable sorghum sources for bioethanol manufacturing in South Africa.
• A detailed analysis of cancer treatment agents represented as special quinone compounds.
• Understanding the targeted administering of embelin to cancerous cells.

Tips for Writing an Interesting Genetics Research Paper

All the genetics research topics above are excellent, and if utilized well, could help you come up with a killer research paper. However, a good genetics research paper goes beyond the topic. Therefore, besides choosing a topic, you are most interested in, and one with sufficient research materials ensure you

Fully Understand the Research Paper Format

You may write on the most interesting genetics topics and have a well-thought-out set of ideas, but if your work is not arranged in an engaging and readable manner, your professor is likely to dismiss it, without looking at what you’ve written. That is the last thing you need as a person seeking to score excellent grades. Therefore, before you even put pen to paper, understand what research format is required.

Keep in mind that part of understanding the paper’s format is knowing what words to use and not to use. You can contact our trustful masters to get qualified assistance.

Research Thoroughly and Create an Outline

Whichever genetics research paper topics you decide to go with, the key to having excellent results is appropriately researching it. Therefore, embark on a journey to understand your genetics research paper topic by thoroughly studying it using resources from your school’s library and the internet.

Ensure you create an outline so that you can note all the useful genetic project ideas down. A research paper outline will help ensure that you don’t forget even one important point. It also enables you to organize your thoughts. That way, writing them down in the actual genetics research paper becomes smooth sailing. In other words, a genetics project outline is more like a sketch of the paper.

Other than the outline, it pays to have an excellent research strategy. In other words, instead of looking for information on any random source you come across, it would be wise to have a step-by-step process of looking for the research information.

For instance, you could start by reading your notes to see what they have to say about the topic you’ve chosen. Next, visit your school’s library, go through any books related to your genetics research paper topic to see whether the information on your notes is correct and for additional information on the topic. Note, you can visit the library either physically or via your school’s website. Lastly, browse educational sites such as Google Scholar, for additional information. This way, you’ll start your work with a bunch of excellent genetics project ideas, and at the same time, you’ll have enjoyed every step of the research process.

Get Down to Work

Now turn the genetics project ideas on your outline into a genetics research paper full of useful and factual information.

There is no denying writing a genetics research paper is one of the hardest parts of your studies. But with the above genetics topics and writing tips to guide you, it should be a tad easier. Good luck!

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Research Topics

The Center for Genetic Medicine’s faculty members represent 33 departments or programs across three Northwestern University schools and three Feinberg-affiliated healthcare institutions. Faculty use genetics and molecular genetic approaches to understand biological processes for a diverse range of practical and clinical applications.

Select a topic below to learn more and see a list of faculty associated with that type of research. For a full list of Center for Genetic Medicine members, visit our Members section .

  Animal Models of Human Disease

Using genetic approaches with model organisms to investigate cellular and physiological processes can lead to improved approaches for detection, prevention and treatment of human diseases.

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  Bioinformatics & Statistics

Bioinformatics, a discipline that unites biology, computer science, statistical methods, and information technology, helps researchers understand how genes or parts of genes relate to other genes, and how genes interact to form networks. These studies provide insight to normal cellular functions and how these functions are disturbed by disease. Statistics is central to genetic approaches, providing quantitative support for biological observations, and statistical genetics is heavily used by laboratories performing gene and trait mapping, sequencing and genotyping, epidemiology, population genetics and risk analysis.

  Cancer Genetics and Genomics

Cancer begins with genetic changes, or mutations, that disrupt normal regulation of cell proliferation, survival and death. Inherited genetic changes contribute to the most common cancers, like breast and colon cancer, and genetic testing can help identify risks for disease. Tumors also develop additional genetic changes, or somatic mutations, that promote cancer growth and tumor metastases. These genetic changes can be readily defined through DNA and RNA sequencing. Genetic changes within a tumor can be used to develop and guide treatment options.

  Cardiovascular Genetics

Cardiovascular disease is one of the leading causes of death in the US, and the risk of  cardiovascular disease is highly dependent inherited genetic changes. The most common forms of heart disease including heart failure, arrhythmias, and vascular disease are under heritable genetic changes. We work to identify and understand the functions of genes that affect the risk of developing cardiovascular disease, as well as to understand the function of genes involved in the normal and pathological development of the heart.

  Clinical and Therapeutics

Using genetic data identifies pathways for developing new therapies and applying existing therapies. DNA sequencing and epigenetic profiling of tumors helps define the precise defects responsible for cancer progression. We use genetic signals to validate pathways for therapy development.  We are using gene editing methods to correct genetic defects. These novel strategies are used to treat patients at Northwestern Memorial Hospital and the Ann & Robert H. Lurie Children's Hospital of Chicago.

  Development

The genomic blueprint of a single fertilized egg directs the formation of the entire organism. To understand the cellular processes that allow cells to create organs and whole animals from this blueprint, we use genetic approaches to investigate the development of model organisms and humans. Induced pluripotent stem cells can be readily generated from skin, blood or urine cells and used to mirror human developmental processes. These studies help us define how genes coordinate normal human development and the changes that occur in diseases, with the goal of improving detection, prevention and treatment of human disease.

  Epigenetics/Chromatin Structure/Gene Expression

Abnormal gene expression underlies many diseases, including cancer and cardiovascular diseases. We investigate how gene expression is regulated by chromatin structure and other regulators to understand abnormal gene expression in disease, and to learn how to manipulate gene expression for therapeutic purposes.

  Gene Editing/Gene Therapy

Gene editing tools like CRISPR/Cas can be used to directly alter the DNA code. This tool is being used to generate cell and animal models of human diseases and disease processes. Gene therapy is being used to treat human disease conditions.

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As part of training in genetic counseling, each student completes a thesis project. These projects examine all aspects of genetic counseling ranging from family-based studies to mechanisms of genetic action. With the expansion of genetic testing, genetic counselors are now conducting research on outcomes, cost effectiveness, and quality improvement.

  Genetic Determinants of Cellular Biology

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  Immunology

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The susceptibility and/or pathological consequences of many infectious diseases have a genetic basis. We investigate how human genes interact with infectious diseases, and use genetic approaches to determine the interactions between pathogens and the host. Genetic tools, including deep sequencing, are most commonly used to define the microbiome as it undergoes adaptation and maladaptation to its host environment.

  Neuroscience

We work to understand how genes contribute to neurological diseases, and use genetic approaches to investigate how the nervous system functions. Epilepsy, movement disorders, and dementia are heritable and under genetic influence. Neuromuscular diseases including muscular dystrophies and myopathies arise from primary mutations and research in genetic correction is moving into human trials and drug approvals.

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119 Genetics Research Topics You Must Know About

Put simply, Genetics is the study of genes and hereditary traits in living organisms. Knowledge in this field has gone up over time, and this is proportional to the amount of research.

Right from the DNA structure discovery, a lot more has come out into the open. There are so many genetics research topics to choose from because of the wide scope of research done in recent years.

Genetics is so dear to us since it helps us understand our genes and hereditary traits. In this guide, you will get to understand this subject more and get several topic suggestions that you can consider when looking for interesting genetics topics.

Writing a paper on genetics is quite intriguing nowadays. Remember that because there are so many topics in genetics, choosing the right one is crucial. It will help you cut down on research time and the technicality of selecting content for the topic. Thus, it would matter a lot if you confirmed whether or not the topic you’re choosing has relevant sources in plenty.

What Is Genetics?

Before we even go deeper into genetics topics for research papers, it is essential to have a basic understanding of what the subject entails.

Genetics is a branch of Biology to start with. It is mainly focused on the study of genetic variation, hereditary traits, and genes.

Genetics has relations with several other subjects, including biotechnology, medicine, and agriculture. In Genetics, we study how genes act on the cell and how they’re transmitted from a parent to the offspring. In modern Genetics, the emphasis is more on DNA, which is the chemical substance found in genes. Remember that Genetics cut across animals, insects, and plants – basically any living organism there is.

Tips On How To Write A Decent Research Paper On Genetics

When planning to choose genetics topics, you should also make time and learn how to research. After all, this is the only way you can gather the information that will help you come up with the content for the paper. Here are some tips that can bail you out whenever you feel stuck:

Choosing the topic, nonetheless, is not an easy thing for many students. There are just so many options present, and often, you get spoilt for choice. But note that this is an integral stage/process that you have to complete. Do proper research on the topic and choose the kind of information that you’d like to apply.

Choose a topic that has enough sources academically. Also, choosing interesting topics in genetics is a flex that can help you during the writing process.

On the web, there’s a myriad of information that often can become deceiving. Amateurs try their luck to put together several pieces of information in a bid to try and convince you that they are the authority on the subject. Many students become gullible to such tricks and end up writing poorly in Genetics.

Resist the temptation to look for an easy way of gaining sources/information. You have to take your time and dig up information from credible resources. Otherwise, you’ll look like a clown in front of your professor with laughable Genetics content.

Also, it is quite important that you check when your sources were updated or published. It is preferred and advised that you use recent sources that have gone under satisfactory research and assessment.

Also, add a few words to each on what you’re planning to discuss.Now, here are some of the top genetics paper topics that can provide ideas on what to write about.

Good Ideas For Genetics Topics

Here are some brilliant ideas that you can use as research paper topics in the Genetics field:

• Is the knowledge of Genetics ahead of replication and research?
• What would superman’s genetics be like?
• DNA molecules and 3D printing – How does it work?
• How come people living in mountainous regions can withstand high altitudes?
• How to cross genes in distinct animals.
• Does gene-crossing really help to improve breeds or animals?
• The human body’s biggest intriguing genetic contradictions
• Are we still far away from achieving clones?
• How close are we to fully cloning human beings?
• Can genetics really help scientists to secure various treatments?
• Gene’s regulation – more details on how they can be regulated.
• Genetic engineering and its functioning.
• What are some of the most fascinating facts in the field of Genetics?
• Can you decipher genetic code?
• Cancer vaccines and whether or not they really work.
• Revealing the genetic pathways that control how proteins are made in a bacterial cell.
• How food affects the human body’s response to and connection with certain plants’ and animals’ DNA.

Hot Topics In Genetics

In this list are some of the topics that raise a lot of attention and interest from the masses. Choose the one that you’d be interested in:

• The question of death: Why do men die before women?
• Has human DNA changed since the evolution process?
• How much can DNA really change?
• How much percentage of genes from the father goes to the child?
• Does the mother have a higher percentage of genes transferred to the child?
• Is every person unique in terms of their genes?
• How does genetics make some of us alike?
• Is there a relationship between diets and genetics?
• Does human DNA resemble any other animal’s DNA?
• Sleep and how long you will live on earth: Are they really related?
• Does genetics or a healthy lifestyle dictate how long you’ll live?
• Is genetics the secret to long life on earth?
• How much does genetics affect your life’s quality?
• The question on ageing: Does genetics have a role to play?
• Can one push away certain diseases just by passing a genetic test?
• Is mental illness continuous through genes?
• The relationship between Parkinson’s, Alzheimer’s and the DNA.

Molecular Genetics Topics

Here is a list of topics to help you get a better understanding of Molecular genetics:

• Mutation of genes and constancy.
• What can we learn more about viruses, bacteria, and multicellular organisms?
• A study on molecular genetics: What does it involve?
• The changing of genetics in bacteria.
• What is the elucidation of the chemical nature of a gene?
• Prokaryotes genetics: Why does this take a centre stage in the genetics of microorganisms?
• Cell study: How this complex assessment has progressed.
• What tools can scientists wield in cell study?
• A look into the DNA of viruses.
• What can the COVID-19 virus help us to understand about genetics?
• Examining molecular genetics through chemical properties.
• Examining molecular genetics through physical properties.
• Is there a way you can store genetic information?
• Is there any distinction between molecular levels and subcellular levels?
• Variability and inheritance: What you need to note about living things at the molecular level.
• The research and study on molecular genetics: Key takeaways.
• What scientists can do within the confines of molecular genetics?
• Molecular genetics research and experiments: What you need to know.
• What is molecular genetics, and how can you learn about it?

Human Genetics Research Topics

Human genetics is an interesting field that has in-depth content. Some topics here will jog your brain and invoke curiosity in you. However, if you have difficulty writing a scientific thesis , you can always contact us for help.

• Can you extend your life by up to 100% just by gaining more understanding of the structure of DNA?
• What programming can you do with the help of DNA?
• Production of neurotransmitters and hormones through DNA.
• Is there something that you can change in the human body?
• What is already predetermined in the human body?
• Do genes capture and secure information on someone’s mentality?
• Vaccines and their effect on the DNA.
• What’s the likelihood that a majority of people on earth have similar DNA?
• Breaking of the myostatin gene: What impact does it have on the human body?
• Is obesity passed genetically?
• What are the odds of someone being overweight when the rest of his lineage is obese?
• A better understanding of the relationship between genetics and human metabolism.
• The truths and myths engulfing human metabolism and genetics.
• Genetic tests on sports performance: What you need to know.
• An insight on human genetics.
• Is there any way that you can prevent diseases that are transmitted genetically?
• What are some of the diseases that can be passed from one generation to the next through genetics?
• Genetic tests conducted on a person’s country of origin: Are they really accurate?
• Is it possible to confirm someone’s country of origin just by analyzing their genes?

Current Topics in Genetics

A list to help you choose from all the most relevant topics:

• DNA-altering experiments: How are scientists conducting them?
• How important is it to educate kids about genetics while they’re still in early learning institutions?
• A look into the genetics of men and women: What are the variations?
• Successes and failures in the study of genetics so far.
• What does the future of genetics compare to the current state?
• Are there any TV series or science fiction films that showcase the future of genetics?
• Some of the most famous myths today are about genetics.
• Is there a relationship between genetics and homosexuality?
• Does intelligence pass through generations?
• What impact does genetics hold on human intelligence?
• Do saliva and hair contain any genetic data?
• What impact does genetics have on criminality?
• Is it possible that most criminals inherit the trait through genetics?
• Drug addiction and alcohol use: How close can you relate it to genetics?
• DNA changes in animals, humans, and plants: What is the trigger?
• Can you extend life through medication?
• Are there any available remedies that extend a person’s life genetically?
• Who can study genetics?
• Is genetics only relevant to scientists?
• The current approach to genetics study: How has it changed since ancient times?

Controversial Genetics Topics

Last, but definitely not least, are some controversial topics in genetics. These are topics that have gone through debate and have faced criticism all around. Here are some you can write a research paper about:

• Gene therapy: Some of the ethical issues surrounding it.
• The genetic engineering of animals: What questions have people raised about it?
• The controversy around epigenetics.
• The human evolution process and how it relates to genetics.
• Gene editing and the numerous controversies around it.
• The question on same-sex relations and genetics.
• The use of personal genetic information in tackling forensic cases.
• Gene doping in sports: What you need to know.
• Gene patenting: Is it even possible?
• Should gene testing be compulsory?
• Genetic-based therapies and the cloud of controversy around them.
• The dangers and opportunities that lie in genetic engineering.
• GMOs and their impact on the health and welfare of humans.
• At what stage in the control of human genetics do we stop to be human?
• Food science and GMO.
• The fight against GMOs: Why is it such a hot topic?
• The pros and cons of genetic testing.
• The debates around eugenics and genetics.
• Labelling of foods with GMO: Should it be mandatory?
• What really are the concerns around the use of GMOs?
• The Supreme Court decision on the patent placed on gene discoveries.
• The ethical issues surrounding nurses and genomic healthcare.
• Cloning controversial issues.
• Religion and genetics.
• Behavior learning theories are pegged on genetics.
• Countries’ war on GMOs.
• Studies on genetic disorders.

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Recent developments in genetic/genomic medicine

Rachel h. horton.

Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom

Anneke M. Lucassen

Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person’s family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

Introduction

The past two decades have seen major shifts in our technical ability to sequence genetic information at scale. Historically, genetic testing tended to consist of either highly detailed molecular testing of nominated single genes, or broad genome-wide dosage screening at low resolution, for example karyotyping [ 1 , 2 ]. Genome sequencing was too slow and too expensive to be used in clinical contexts: for example the Human Genome Project, which was 99% complete in 2004, cost three billion dollars and took 13 years to sequence [ 3 ].

More recently, advances in sequencing technology have made it possible to undertake broad genetic testing on an individual patient basis within a clinically useful timeframe, via exome and genome sequencing. Exome tests sequence the entire protein-coding region of the genome, representing less than 2% of the genome but containing approximately 85% of known disease-causing variants [ 4 ]; genome sequencing encompasses the exome but also sequences all the non-protein-coding DNA. Initially implementation of such tests was via clinical research studies such as the Deciphering Developmental Disorders project [ 5 ], but more recently exome sequencing has been utilised as a clinical diagnostic test [ 6 ]. Genome sequencing is also due to transition to being available as a standard NHS test in June 2019, having previously only been available via initiatives such as the 100,000 Genomes Project [ 7 ].

Sequencing technology has improved in depth as well as breadth, and this has been of importance in better understanding cancer. The ability to sequence cancer genomes has led to rapid identification of driver mutations and has helped to work out the complex relationships between different cancer subclones over space and time, demonstrating the enormous heterogeneity of cancers and the difficulty of successfully treating them [ 8 ]. As sequencing techniques have advanced to the level where tiny amounts of tumour or individual cells can be sequenced, it has been possible to identify previously unknown mutational mechanisms, such as chromothripsis 1 [ 9 ] and kataegis 2 [ 10 ].

However, our ability to generate genomic data has substantially outstripped our ability to interpret its significance for an individual, and while improvements in genomic technology are in many cases driving improvements in healthcare, we are also encountering new problems as genomic testing shifts into the clinical setting. The Global Alliance for Genomics and Health (GA4GH) predicts that by 2025, over 60 million people will have had their genome sequenced in a healthcare context [ 11 ], but pathways for managing the output from genome sequencing are still in their infancy. The detailed but unfocused approach of genomic tests gives opportunities to answer questions that go beyond the problems that led to a patient having a test. However, deciding which of the multitude of possible outputs from genomic tests should be considered a ‘result’ at any given time is very challenging, not least because the links between many genetic variants and diseases are often unproven or poorly understood [ 12 ]. Multidisciplinary input and collaboration are increasingly key to interpreting the significance of genomic results. This review discusses the developments in practice that are evolving as a result of increasing use of genomic technologies.

New disease gene discovery and changing concepts of diagnosis

Exome and genome sequencing are powerful diagnostic tools – for example the Deciphering Developmental Disorders project, which recruited patients with severe undiagnosed disorders (who had generally already had any currently available diagnostic genetic testing), achieved a 40% diagnosis rate via trio exome sequencing for the first 1133 family trios in the study [ 13 ]. The search for a diagnosis has often been described as a journey [ 14 ], with parents of children with rare genetic disorders anticipating that a diagnosis may guide treatment, prognosis, acceptance and social support [ 15 ]. However, identification of new rare disease genes may be changing the impact of receiving a diagnosis, and in many cases very little is known about the long-term effects of newly identified genetic conditions.

Historically when making a genetic diagnosis, it has usually been possible to give families some information regarding prognosis, and to provide some parameters as to what to expect for the future, based on previous experience of what has happened for other children affected by the same condition. Now, while in some situations due to strong phenotypic match it is possible to be confident that a child’s rare disease has been caused by pathogenic variants in a recently described rare disease gene, often this provides little information about a child’s future.

We are increasingly in the position of learning about the effects of possible disease-causing variation(s) in a gene through meeting the patients in whom such genetic changes have been discovered. Often these changes will be in a gene newly thought to be linked to developmental disorders and there will be little, if any, published literature to draw on. We then have to speculate whether the genetic change detected is the cause of our patient’s health problems, and whether any additional difficulties that have happened for our patient that have not yet been noted in other patients with changes in the same gene are an extension of the phenotype of the newly described disease gene, or coincidental. In situations like this, we are often unable to give people information about what a new diagnosis might mean for them or their child in the longer term.

This has led to patient support and awareness groups taking on an increasingly important role [ 16 ], as families gather to share their lived experience of newly diagnosed rare genetic conditions, in turn informing clinical services. For example, the charity Unique works with families and professionals to develop specialist information relating to many rare and newly described genetic conditions, and to gather information about their long-term effects, increasing awareness and understanding of what it is like to live with rare genetic conditions. The rapidity with which such information can be gathered is also exemplified by the work of the PURA Syndrome Foundation: in 2014 the first patients with a rare condition called PURA syndrome were described in the medical literature [ 17 ]. Shortly afterwards the PURA Syndrome Foundation was established which has catalysed links between families, clinicians and researchers, greatly improving the speed and quality of research into the condition [ 18 ].

The agnostic approach of exome and genome sequencing is also challenging our previous concepts of existing genetic diagnoses, when apparently pathogenic variants are found in well-described disease genes but the patient’s clinical picture falls outside the boundaries of what we would conventionally expect for a patient affected by that particular genetic condition. For example, loss-of-function variants in SOX2 are known to cause anophthalmia and microphthalmia in addition to other phenotypes such as developmental delay and structural brain anomalies. Eye abnormalities were thought to be a key feature of SOX2 -related disorders, and so SOX2 would only be requested as a genetic test in patients who had absent or small eyes. Recently, via ‘genotype-first’ approaches, loss-of-function SOX2 variants have been found in people with developmental delay but without anophthalmia or microphthalmia, broadening the phenotypic spectrum associated with this gene [ 19 ]. Case Study 1 shows a further example where exome testing has extended previous perceptions of the clinical scope of a genetic condition.

Case Study 1

Redefining our understanding of genetic conditions (fictional case based on eggens et al. [ 20 ]).

An 8-year-old girl was referred to clinical genetics in order to investigate her progressive weakness. She had been floppy as a baby and from the age of 5 years had developed worsening limb weakness with frequent unusual movements, and difficulty in swallowing. Serial brain scans had shown progressive cerebellar atrophy.

Exome testing found that she was homozygous for a variant predicted to disrupt the function of EXOSC3 , a gene associated with pontocerebellar hypoplasia. This diagnosis had never been thought of as she did not have one of the defining characteristics: pontine hypoplasia. Her clinical picture also seemed atypical for this condition – most children with pontocerebellar hypoplasia do not survive infancy.

However, recent research has shown genotype–phenotype correlations in EXOSC3 -mediated pontocerebellar hypoplasia – patients homozygous for p.D132A variants (like this patient had) tend to have a milder clinical course and preservation of the pons. This genetic explanation fitted well in retrospect, but would not have been considered in advance of the exome test.

Key messages

• Many well-recognised genetic conditions may have a wider spectrum of effects than previously thought.
• Patients with genetic conditions identified via genomic tests may not conform to the pattern we expect based on experience of patients with the same condition identified via single gene testing. It can be very difficult to be sure whether this reflects an incorrect diagnosis, or a wider disease spectrum than previously recognised.

In many cases, our understanding of why the same genetic condition may be expressed so differently among different people is at an early stage, and this often makes genetic counselling very challenging, particularly in the prenatal setting. For some genetic conditions, it is becoming possible to provide more personalised risk estimates, based on combining knowledge of a person’s genetic diagnosis, with analysis of other factors that may influence their risk. Personalisation of risk in this way has generally been crude and reliant on clinically obvious characteristics: for example, men with pathogenic BRCA variants have a lower risk of developing breast cancer than women with pathogenic BRCA variants. More recently, genetic testing is being developed to complement ‘key’ genetic test results to provide an increasingly refined personal risk. For example, use of a polygenic risk score using breast cancer and ovarian cancer susceptibility SNPs identified via population GWAS showed large differences in absolute cancer risks between women with pathogenic BRCA variants with higher compared with lower polygenic risk score values [ 21 ]. This has yet to translate into routine clinical practice, but has the potential to help women with pathogenic BRCA variants make more informed decisions about how and when to manage their cancer risk.

The downsides of improved sensitivity: increased uncertainty in what tests mean

The prior probability of any one variant identified via genome sequencing being causative for a patient’s rare disease is extremely low. Attempts to catalogue human genetic variation, for example via the 1000 Genomes Project, show that a typical human genome differs from the reference human genome at 4.1–5 million sites [ 22 ]. Most of these variations will be entirely benign, some may subtly impact on risk of various common diseases, and a very small number will have the potential to cause serious disease either in an individual, or in their children (potentially in combination with variants inherited from their partner).

Genome sequencing identifies the majority of these variants, which then need careful filtering to produce a meaningful output. This has required a significant change in mindset from an era when most variants were identified in the context of carefully chosen single gene sequencing, and so had a much higher prior probability of being causative. There is an increasing shift towards a view that variants should be ‘innocent until proven guilty’ [ 23 ], but there is a lack of consensus regarding how to translate this principle into clinical practice.

There is also considerable discrepancy in how different genetics laboratories interpret the same variants. International guidelines for variant interpretation are helpful but insufficient to remove a great deal of noise when attempting to assign significance to particular findings [ 24 ]. This was illustrated in a recent study comparing variant classification among nine genetic laboratories: although they all used the same guidelines, only 34% of variants were given the same classification by all laboratories, and 22% of variants were classified so differently that different medical interventions would be recommended [ 25 ]. At a lower resolution level, even being sure of the relationship between genes and diseases is often difficult. For example, curation of the 21 genes routinely available on Brugada syndrome gene panels using the ClinGen gene curation scoring matrix found that only one of these genes was definitively linked to Brugada syndrome [ 26 ]. Our improving knowledge of variant interpretation leaves us with a difficult legacy, with many patients having been diagnosed incorrectly with genetic conditions. The effects of this can be far-reaching and difficult to undo, as illustrated by Case Study 2 .

Case Study 2

The legacy of incorrect diagnosis (case reported by ackerman et al. [ 27 ]).

A teenage boy died suddenly and genetic testing was then undertaken for his brother, resulting in the finding of a rare variant in KCNQ1 . On the basis of this test, the living brother was diagnosed with long QT syndrome, and the teenage boy’s sudden death was attributed to long QT syndrome. The living brother had an implantable cardioverter defibrillator inserted, and via cascade genetic testing over 24 relatives were diagnosed as having long QT syndrome, despite having normal QT intervals on ECG.

However, subsequent examination of post-mortem samples found that the boy who died had cardiac features inconsistent with long QT syndrome, did not have the KCNQ1 variant found in the wider family, and instead had a clearly disease-causing de novo variant in DES , a gene linked to cardiomyopathy.

• It is very important to consider whether the clinical picture fits when evaluating variant significance: genetic variants will usually only predict disease well if found in the context of a medical or family history of the relevant disease.
• Incorrect (or inappropriately deterministic) genetic test interpretation can affect the clinical care of a whole family, not just the person being tested.

Although this suggests that we need to be very cautious in making firm genetic diagnoses, it is difficult to know where the threshold should lie for communicating genetic variation of uncertain significance. There is some evidence that people find receiving a variant of uncertain significance surprising and disturbing, and some people misinterpret it as being definitely pathogenic or definitely benign [ 28 ]. However, there is also evidence that many people have a strong desire to receive a broad range of results from genetic testing, including uncertain results, and are uncomfortable with the idea that decisions about non-disclosure might be made without involving them [ 29 ].

The fear is that disclosure of uncertain variants will lead to over-diagnosis and over-management, with variants inappropriately being treated as if pathogenic. Excessive and inappropriate interventions (not to mention anxiety and distress) might then cascade through families, going against one of the fundamental principles of medicine to ‘first do no harm’. However, we also fear missing something or being accused of ‘hiding information’. The result is that we tend to end up in purgatory, documenting uncertain variants on lab reports (though sometimes not) and having lengthy conservations with patients about them (though sometimes not), then tacking on a caveat that ‘maybe this means nothing’. This nominally shifts the responsibility to the next person in the chain but feels unsatisfactory for all concerned.

Uncertainty when to stop looking and what to communicate

Another issue arising from improved sensitivity is the ability to find genetic variants that are unrelated to the clinical problem that a patient presents with, but that may be relevant for their health in other ways. This may be viewed as positive or negative, but working out how to handle this information raises difficult questions. In 2013, the American College of Medical Genetics and Genomics (ACMG) suggested that laboratories should automatically seek and report pathogenic variants in 56 genes associated with ‘medically actionable’ conditions when performing clinical sequencing [ 30 ]. The main rationale was the potential to benefit patients and families by diagnosing disorders where preventative measures and/or treatments were available, with the aim of improving health. However, these recommendations proved controversial. The main debate at the time centred around whether patients should have a right to choose not to know such information [ 31 ]. Subsequent questions about the role of clinicians in offering additional findings, what constitutes a ‘medically actionable’ finding, and what is the predictive value of such findings in the absence of a phenotype or family history of the relevant disorder, are yet to be fully addressed.

Analysis of data from the 1000 Genomes cohort demonstrated that approximately 1% of ‘healthy’ people will have a ‘medically actionable’ finding in one of the 56 genes [ 32 ]. However, what this might mean on an individual basis is often unclear. Most of our knowledge regarding the effects of variation in any given gene has been gathered by observing people who have been identified as having variants in the gene because they were tested as they had a personal history or family history of disease, biasing the sample from which our conclusions are drawn. It is less clear what it might mean to find, for example, an apparently pathogenic variant in a gene linked to cardiomyopathy in a person with no personal or family history of heart problems. This has important implications for ‘cascade screening’, where relatives of a patient affected by a condition with a known genetic cause are offered testing to see whether they have the disease-causing genetic variant that was found in their clinically affected family member (meaning that they may also be at risk of developing the disease). To what extent should testing and subsequent screening be offered in a family based on an incidental finding of a genetic variant thought to be predictive of a particular condition, if there is no clinical evidence that anyone in the family, including the person in whom the genetic variant in question was first identified, is actually affected by it?

Broad genomic testing also has the potential to detect carrier status for recessive and X-linked conditions. From population studies, we know that being a carrier for a genetic condition is very common. For example, a gene panel testing carrier status for 108 recessive disorders in 23453 people found that 24% were carriers for at least one of the 108 disorders, and 5.2% were carriers for multiple disorders [ 33 ]. On a disorder-by-disorder status, being a carrier for a genetic condition is very rare (with notable exceptions such as haemochromatosis and cystic fibrosis), but when considered collectively, it is ‘normal’ to be a carrier for a genetic condition. For most people, being a carrier will have no impact on their life at all. However, if their partner happens to be a carrier for the same condition then the implications could be very profound, as each of their children would have a one in four chance of being affected by the genetic condition. This is particularly relevant for couples who are known to be biologically related [ 34 ], and couples with common ancestry, as they will have a higher chance of both being carriers for the same recessive condition. Carrier screening for various autosomal recessive diseases has been available in some instances for many years, for example screening for carrier status for Tay–Sachs disease for people of Ashkenazi Jewish ancestry has been offered since the 1970s [ 35 , 36 ]. More recently, advances in technology have led to development of expanded carrier screening tests, which check carrier status for multiple diseases simultaneously and are often less targeted towards particular genetic populations [ 37 ].

The increased scope of carrier screening, combined with the recognition that it is very common to be a carrier for one or more recessive genetic conditions, has led to an increasing move to consider carrier results for recessive genetic conditions on a couple basis, where carrier status is only communicated if it would be relevant in the context of a particular relationship (i.e. if both people in a couple are carriers for the same condition) [ 38 ]. This avoids pathologising the status of ‘being a carrier’, recognising that most of us are carriers for some genetic conditions, and conserves resources for genetics services by not flooding the system with large volumes of individual carrier results, most of which will be meaningless in the context of that individual’s life. Objections to this approach are that by not communicating individual carrier results, a person would not know this information for future relationships, and their family could not access cascade screening to see whether they are also carriers. However, these objections could be obviated by widespread adoption of couple carrier testing – a person (or their close relatives) could find out their carrier status if relevant when they next had a couple carrier test in the context of their new relationship. In some ways, this could be seen as comparable with management of infectious disease – lots of healthy people carry MRSA, but very few die of MRSA infection. People are therefore screened at times when they might be especially vulnerable to becoming unwell from MRSA, or when they might pass it on to others at risk, for example when admitted to hospital, rather than being tested at random points when they are generally well.

The expanding remit and availability of genetic technology

‘acute genetics’.

For many years, clinical genetics input has at times influenced acute care, for example in diagnosing trisomies in the neonatal period, or informing the care of babies born with ambiguous genitalia. However in many circumstances, the key contribution of clinical genetics was in providing a post hoc explanation for serious medical problems, rather than in influencing treatment decisions on a real-time basis. This is changing as the availability of exome and genome sequencing increases, as shown by Case Study 3 . A recent study in a neonatal intensive care unit in Texas studied outcomes for 278 infants who were referred for clinical exome sequencing, and found that 36.7% received a genetic diagnosis, and medical management was affected for 52% of infants with diagnoses [ 39 ]. There is increasing evidence that this approach is cost-effective: for example, a prospective study of exome sequencing for infants with suspected monogenic disorders found that standard care achieved an average cost per diagnosis of AU$ 27050, compared with AU$ 5047 for early singleton exome sequencing [ 40 ]. Similarly, ‘real-time’ genetic and genomic testing is making an impact in cancer treatment, where in many cases testing is available to help guide treatment choices by identifying actionable genetic variants in tumours that may respond to specific therapies [ 41 , 42 ].

Case Study 3

Insights from exome testing transforming a clinical course (case from wessex genomic medicine centre [ 43 ]).

A young woman was referred for exome testing having spent months in a coma. From childhood she had experienced sensory problems, and as a young adult she had gone on to develop seizures which deteriorated into status epilepticus, necessitating ventilation on intensive care.

After 3 years during which all other avenues had been explored, analysis of her exome was proposed. An unexpected diagnosis of pyridoxine-dependent epilepsy was found; this had not previously been considered as classically it causes seizures in the first few months of life. She began treatment with pyridoxine (vitamin B 6 ). From that point on she had no further seizures and her clinical situation transformed. Over a 6-month period she was weaned off all of her anti-epileptic drugs, and was able to return to a normal life.

Key message

• Exome or genome tests have the potential to make an enormous difference to clinical care and to people’s lives.

Pharmacogenomics

As well as guiding treatment choice, genetic testing will increasingly influence what doses are prescribed, and whether medications are considered unsuitable in view of a high risk of an adverse reaction. Around the time that the Human Genome Project was completed, there was considerable excitement about the possibility of genetic testing guiding use of medication in the clinic [ 44 , 45 ]. The potential of genotype-driven drug dosing has for the most part yet to be realised, in part because the interaction of the genetic factors involved is sometimes complex, and in part because environmental factors may also have a significant impact on how a person responds to a drug. For example, genotype-driven prescription of warfarin, which has notoriously wide inter-individual variation in dosage requirements, largely remains in the realm of research [ 46 ].

However, for some drugs, pharmacogenomics has already had a significant impact in reducing morbidity and mortality. For example, when the antiretroviral drug abacavir was first introduced, approximately 5% of the people treated developed an idiosyncratic hypersensitivity reaction that could be life-threatening on repeated exposure to the drug [ 47 , 48 ]. Research established that immunologically confirmed hypersensitivity reactions to abacavir only occurred in people with the HLA-B*5701 allele, and a clinical trial went on to show that pre-screening patients to check that they did not have HLA-B*5701 prior to starting the drug led to no confirmed hypersensitivity reactions in the pre-screened arm, while 2.4% of the unscreened patients had reactions [ 49 ]. Patients are now screened for HLA-B*5701 as standard before starting abacavir treatment [ 50 ]. Similar screening is likely to become more widespread as we learn more about genetic risk factors for adverse drug reactions. For example, there are increasing suggestions that the mitochondrial variant m.1555A>G should be checked in patients with cystic fibrosis in order to guide antibiotic treatment choices, in view of the evidence that people with this variant may develop hearing loss when exposed to aminoglycosides [ 51 ].

Evolving options in prenatal genetics

Genetic testing is also being used more extensively in the prenatal setting, in part because of developments in non-invasive prenatal testing and diagnosis, which allow genetic screening or testing of a developing pregnancy by doing a blood test for the mother [ 52 ]. This removes the risk of miscarriage associated with conventional prenatal tests (chorionic villus sampling or amniocentesis). While this is in some ways a stride forward, it raises various ethical issues, as the technical test safety may lead to such testing becoming viewed as routine. This raises the concern that couples will give less careful consideration as to whether they really want to know the results before having such tests, and that women may feel that there is an expectation that they should have testing. The worry is that this could potentially lead to people feeling under pressure to terminate pregnancies in response to genetic test results (including in situations where the clinical implications of the results may be far from clear) [ 53 ].

Widening access to genetic testing within healthcare

The expanding options for genetic testing and the escalating expectation for quick results to drive clinical management mean that testing provision is increasingly being pushed out of highly specialised genetics centres into mainstream medicine. For example, many women with ovarian cancer will now be offered BRCA testing via their oncology team, and only referred to genetics if needed based on the test results [ 54 ]. Genetics appointments now frequently focus on interpretation of tests already done, working out if the test outcome seems to match the clinical problem, and arranging testing and surveillance for family members.

The rise of direct-to-consumer genetic testing

As clinical services have increasingly grown to expect and demand genetic answers for patients with complex health problems, on a broader societal level the hunger for genetic information also seems to be increasing. However this is occurring in the context of a public discourse about personalised/precision medicine and genetics that tend to enthusiastically promote it in a very optimistic light, rarely dwelling on potential concerns and limitations, and therefore potentially sculpting inappropriate expectations from technology that is still being developed [ 55 ].

Direct-to-consumer tests currently sit outside much of the regulation that governs clinical genetic testing, but claim to provide insight into issues as diverse as ancestry, nutrition, athletic ability, and child talent [ 56 ]. Many testing providers also claim to help provide insight on health, though the information provided by many direct-to-consumer companies is far from comprehensive. For example, a recent analysis of 15 direct-to-consumer genetic testing companies advertising to U.K. consumers found that none of them complied with all the U.K. Human Genetics Commission principles for good practice regarding consumer information [ 57 ]. There are also examples that might make us reflect sceptically on the value of these tests – for example a case where a family sent a sample from their dog to a direct-to-consumer testing company designed to provide insights on people’s genetic ‘superpowers’ and received a report which did not mention that the sample was not human but conjectured that the client would be talented at basketball [ 58 ].

‘DIY genetics’ has also risen in popularity, with people asking for raw data from direct-to-consumer companies then processing this themselves via third-party interpretation services, as discussed in Case Study 4 . Approximately 40% of genetic changes in direct-to-consumer test raw data sent for clinical confirmation are false positives [ 59 ], but this is often not appreciated by customers or the doctors they may subsequently visit, leading to anxiety and often inappropriate medical interventions [ 60 ]. However, clearly many people see a value in receiving genetic information and are prepared to pay for this. This marks a shift from genetic testing in order to explain health problems or for people at high risk of developing specific genetic conditions, to testing of healthy people with the rationale of facilitating life planning. This idea has been taken to the extreme with initiatives such as the BabySeq project, exploring the medical, behavioural and economic impacts of integrating genome sequencing into the care of healthy newborns [ 61 ].

Case Study 4

Grime on the crystal ball (fictional case based on moscarello et al. [ 60 ]).

A healthy medical student was given a direct-to-consumer genetic test for Christmas, and explored the raw data from this test using an online interpretation programme, finding a variant in MYBPC3 that was predicted to cause hypertrophic cardiomyopathy. He was understandably worried by this result, taking time off university as he came to terms with it, and giving up running, which he used to really enjoy.

He was seen in a hypertrophic cardiomyopathy clinic and had an expert cardiology assessment including ECG, echocardiogram and review of his family history. He was found to have no clinical evidence of hypertrophic cardiomyopathy, and further genetic testing showed that he did not actually have the disease-causing MYBPC3 variant that the online interpretation programme had identified. However, he continued to feel anxious about his risk of heart problems and decided to give up running permanently.

• Information provided from direct-to-consumer testing may be unreliable, especially where online interpretation programmes are used to further explore the raw data from the test: the level of quality control may be very different from that of accredited genetic laboratories, increasing the likelihood of false positives, false negatives and sample mix-up.
• Many direct-to-consumer genetic tests involve no meaningful pre-test counselling – people are often totally unprepared for the information that might come out of such testing (and are unaware that it might be wrong).

Genetic information as family information

The familial nature of genetic information has always generated discussion as to how to respect the confidentiality of individual patients while ensuring that their close relatives have access to information that may be relevant for their own health and life choices. Clinical guidance in this area has increasingly taken the stance that genetic information should be confidential to families, not individuals (though the personal consequences of having a genetic change for a given individual should be confidential to them alone) [ 62 ].

The consequences of this shift are still being navigated in the clinical setting – research indicates that patients often see genetic information as belonging to their family rather than exclusively to them [ 63 ], but healthcare professionals are often reticent about taking a familial approach to the confidentiality of genetic information in practice, worrying that this stance could disrupt family dynamics or erode patient trust in the health service [ 64 ]. A recent BMJ poll which asked, ‘Are there situations when sharing a patient’s genetic information with relatives without consent is acceptable?’ demonstrated the current split in opinion, with 51% of respondents answering ‘yes’ and 49% ‘no’ [ 65 ]. The personal versus familial nature of genetic information is currently being tested in the courts via the ABC case, which centres around non-disclosure of genetic risk to the daughter of a patient with Huntington’s disease [ 66 ].

Treatment for genetic disorders

One of the most exciting recent developments in genetics and genomics is the prospect of treatment for an increasing number of genetic conditions. However this topic has to be treated with caution as the practical reality for many patients and families is that though promising research is ongoing, meaningful treatment is not possible in many cases. Even in situations where evidence-based treatments have been developed, the expense of many of these therapies risks making them inaccessible.

Many different approaches have been taken to try to treat genetic conditions. Gene therapy, which involves delivering functional genetic code, is one approach but its success has been widely variable, often due to difficulty in developing vectors that can deliver genetic material into affected tissues at sufficiently high levels without being destroyed by the immune system. In certain situations this approach can be highly effective, for example promising results have been achieved in various eye conditions, likely because eyes are small and easily accessible, and have a privileged relationship with the immune system [ 67 ]. In cases aiming to deliver gene therapy to a wider area, such as the lungs or the muscles, treatment attempts have generally proved more challenging [ 68 , 69 ].

Other approaches include use of small molecules to modify various steps in the pathway from gene to functional product. For example, Eteplirsen aims to treat Duchenne muscular dystrophy in certain patients by influencing splicing machinery to skip exon 51 from mature DMD mRNA, restoring a more functional reading frame so that a shortened version of dystrophin can be successfully translated [ 70 ]. Ivacaftor potentiates the action of CFTR channels in some patients with cystic fibrosis (G551D pathogenic variant) [ 71 ]. Enzyme replacement therapy is being trialled to treat children with mucopolysaccharidoses, for example idursulphase infusions in mucopolysaccharidosis type 2 [ 72 ].

While lots of these therapies are very exciting and show demonstrable changes at the molecular level in clinical trials, these cellular changes do not always clearly translate into improvements in clinically relevant outcomes. The therapies are also often hugely expensive, which raises very difficult ethical questions regarding whether limited resources should be spent on such treatments where there is often only limited proof of clinical efficacy.

However the increasing possibility of future treatments for genetic conditions is influencing clinical decisions around the care of very ill children. For example, recently nusinersen has shown promise as a treatment for some children with spinal muscular atrophy, but this may begin to raise new questions about whether interventions such as intubation and tracheostomy should be offered to infants with severe spinal muscular atrophy, where previously these would have been considered medically inappropriate [ 73 ]. This has consequences for the clinical conversations happening when these diagnoses are made. In the past, breaking news of such a diagnosis might flow naturally into discussions around palliation. The possibility of treatment now creates new options to consider, but also new challenges in considering with parents how best to care for their child [ 74 ]. The clinical impact and accessibility of emerging treatments is often very uncertain, but parents may prefer to explore even extremely long-shot treatments over accepting a palliative care pathway route, and may expect or seek crowd funding for experimental treatments for which there is as yet very little, if any, evidence of benefit.

Improving genetic technology has also had a significant impact on fertility services, ranging from pre-implantation genetic diagnosis to mitochondrial donation, offering new options for families affected by genetic conditions [ 75 , 76 ]. Increasing technological capability is set to extend the theoretically possible range of options – for example last year a group in China used the CRISPR/Cas9 system to correct pathogenic variants in the HBB and G6PD genes in human zygotes [ 77 ], though the efficiency and accuracy of the correction procedure was variable. This emerging possibility raises significant ethical issues which need debate. A recent report of the Nuffield Council on Bioethics on genome editing in the context of human reproduction suggested that there may be certain contexts in which this may be ethically acceptable, provided that such interventions were intended to secure the welfare of a person who may be born as a result, and that any such interventions would uphold principles of social justice and solidarity [ 78 ].

Conclusions

Insights from genomic technology have great potential to improve health, but we are currently going through a teething process in learning how to respond to the nebulous information that genomic tests can provide in the clinical setting. In part, this learning process is being driven by patients and families, with patient support groups coming to the fore in an era where we can now make extremely rare diagnoses that link different families across the world, but often have very little information on what this might mean for the future. Our current response to the outcomes from genomic tests is often reactive and ad hoc, partly because we are still learning how to interpret genomic variation and are often unable to gain a consensus on whether genetic variants are clinically significant or not. This situation is exacerbated by the different routes in which genomic information is now accessible – rapid tests to establish diagnosis or plan treatment for patients are now a reality in the real-life clinical setting, but healthy people also have increasing access to commercial tests that claim to provide genetic information to improve health and life planning. This raises particular challenges in the context of a public discourse about genomics that tends to present it as far more predictive and certain than it actually is. Some of the most exciting recent developments in genomic medicine relate to potential future treatments and reproductive options for people and families affected by rare genetic conditions. However hurdles relating to treatment efficacy and optimal timing of treatment, mean that we need to keep these advances in perspective and consider how to research potential treatments responsibly, avoiding creating hype that undermines the ability of families to make a balanced decision whether or not to participate in this research. It is also important to consider financial sustainability, avoiding situations where useful new treatments are developed that remain inaccessible to the patients who need them on account of their cost. To summarise, the introduction of genomic testing is having a big impact on patient care, but raises various issues that need further study and debate in order to help us maximise the potential benefits of genomic medicine while minimising the possible harms.

Acknowledgments

We thank the patient in Case Study 3 for her help with the Case Study box and for sharing her story.

Abbreviations

1 Complex chromosome rearrangements, thought to occur due to single catastrophic events where chromosomes ‘shatter’ and are repaired by error-prone mechanisms.

2 Clusters of localised mutations.

This work was supported by funding from a Wellcome Trust collaborative award [grant number 208053/Z/17/Z (to A.L.)].

Competing interests

The authors declare that there are no competing interests associated with the manuscript.

Research Topics & Ideas

Biotechnology and Genetic Engineering

If you’re just starting out exploring biotechnology-related topics for your dissertation, thesis or research project, you’ve come to the right place. In this post, we’ll help kickstart your research topic ideation process by providing a hearty list of research topics and ideas , including examples from recent studies.

PS – This is just the start…

We know it’s exciting to run through a list of research topics, but please keep in mind that this list is just a starting point . To develop a suitable research topic, you’ll need to identify a clear and convincing research gap , and a viable plan  to fill that gap.

If this sounds foreign to you, check out our free research topic webinar that explores how to find and refine a high-quality research topic, from scratch. Alternatively, if you’d like hands-on help, consider our 1-on-1 coaching service .

Biotechnology Research Topic Ideas

Below you’ll find a list of biotech and genetic engineering-related research topics ideas. These are intentionally broad and generic , so keep in mind that you will need to refine them a little. Nevertheless, they should inspire some ideas for your project.

• Developing CRISPR-Cas9 gene editing techniques for treating inherited blood disorders.
• The use of biotechnology in developing drought-resistant crop varieties.
• The role of genetic engineering in enhancing biofuel production efficiency.
• Investigating the potential of stem cell therapy in regenerative medicine for spinal cord injuries.
• Developing gene therapy approaches for the treatment of rare genetic diseases.
• The application of biotechnology in creating biodegradable plastics from plant materials.
• The use of gene editing to enhance nutritional content in staple crops.
• Investigating the potential of microbiome engineering in treating gastrointestinal diseases.
• The role of genetic engineering in vaccine development, with a focus on mRNA vaccines.
• Biotechnological approaches to combat antibiotic-resistant bacteria.
• Developing genetically engineered organisms for bioremediation of polluted environments.
• The use of gene editing to create hypoallergenic food products.
• Investigating the role of epigenetics in cancer development and therapy.
• The application of biotechnology in developing rapid diagnostic tools for infectious diseases.
• Genetic engineering for the production of synthetic spider silk for industrial use.
• Biotechnological strategies for improving animal health and productivity in agriculture.
• The use of gene editing in creating organ donor animals compatible with human transplantation.
• Developing algae-based bioreactors for carbon capture and biofuel production.
• The role of biotechnology in enhancing the shelf life and quality of fresh produce.
• Investigating the ethics and social implications of human gene editing technologies.
• The use of CRISPR technology in creating models for neurodegenerative diseases.
• Biotechnological approaches for the production of high-value pharmaceutical compounds.
• The application of genetic engineering in developing pest-resistant crops.
• Investigating the potential of gene therapy in treating autoimmune diseases.
• Developing biotechnological methods for producing environmentally friendly dyes.

Biotech & GE Research Topic Ideas (Continued)

• The use of genetic engineering in enhancing the efficiency of photosynthesis in plants.
• Biotechnological innovations in creating sustainable aquaculture practices.
• The role of biotechnology in developing non-invasive prenatal genetic testing methods.
• Genetic engineering for the development of novel enzymes for industrial applications.
• Investigating the potential of xenotransplantation in addressing organ donor shortages.
• The use of biotechnology in creating personalised cancer vaccines.
• Developing gene editing tools for combating invasive species in ecosystems.
• Biotechnological strategies for improving the nutritional quality of plant-based proteins.
• The application of genetic engineering in enhancing the production of renewable energy sources.
• Investigating the role of biotechnology in creating advanced wound care materials.
• The use of CRISPR for targeted gene activation in regenerative medicine.
• Biotechnological approaches to enhancing the sensory qualities of plant-based meat alternatives.
• Genetic engineering for improving the efficiency of water use in agriculture.
• The role of biotechnology in developing treatments for rare metabolic disorders.
• Investigating the use of gene therapy in age-related macular degeneration.
• The application of genetic engineering in developing allergen-free nuts.
• Biotechnological innovations in the production of sustainable and eco-friendly textiles.
• The use of gene editing in studying and treating sleep disorders.
• Developing biotechnological solutions for the management of plastic waste.
• The role of genetic engineering in enhancing the production of essential vitamins in crops.
• Biotechnological approaches to the treatment of chronic pain conditions.
• The use of gene therapy in treating muscular dystrophy.
• Investigating the potential of biotechnology in reversing environmental degradation.
• The application of genetic engineering in improving the shelf life of vaccines.
• Biotechnological strategies for enhancing the efficiency of mineral extraction in mining.

Recent Biotech & GE-Related Studies

While the ideas we’ve presented above are a decent starting point for finding a research topic in biotech, they are fairly generic and non-specific. So, it helps to look at actual studies in the biotech space to see how this all comes together in practice.

Below, we’ve included a selection of recent studies to help refine your thinking. These are actual studies,  so they can provide some useful insight as to what a research topic looks like in practice.

• Genetic modifications associated with sustainability aspects for sustainable developments (Sharma et al., 2022)
• Review On: Impact of Genetic Engineering in Biotic Stresses Resistance Crop Breeding (Abebe & Tafa, 2022)
• Biorisk assessment of genetic engineering — lessons learned from teaching interdisciplinary courses on responsible conduct in the life sciences (Himmel et al., 2022)
• Genetic Engineering Technologies for Improving Crop Yield and Quality (Ye et al., 2022)
• Legal Aspects of Genetically Modified Food Product Safety for Health in Indonesia (Khamdi, 2022)
• Innovative Teaching Practice and Exploration of Genetic Engineering Experiment (Jebur, 2022)
• Efficient Bacterial Genome Engineering throughout the Central Dogma Using the Dual-Selection Marker tetAOPT (Bayer et al., 2022)
• Gene engineering: its positive and negative effects (Makrushina & Klitsenko, 2022)
• Advances of genetic engineering in streptococci and enterococci (Kurushima & Tomita, 2022)
• Genetic Engineering of Immune Evasive Stem Cell-Derived Islets (Sackett et al., 2022)
• Establishment of High-Efficiency Screening System for Gene Deletion in Fusarium venenatum TB01 (Tong et al., 2022)
• Prospects of chloroplast metabolic engineering for developing nutrient-dense food crops (Tanwar et al., 2022)
• Genetic research: legal and ethical aspects (Rustambekov et al., 2023). Non-transgenic Gene Modulation via Spray Delivery of Nucleic Acid/Peptide Complexes into Plant Nuclei and Chloroplasts (Thagun et al., 2022)
• The role of genetic breeding in food security: A review (Sam et al., 2022). Biotechnology: use of available carbon sources on the planet to generate alternatives energy (Junior et al., 2022)
• Biotechnology and biodiversity for the sustainable development of our society (Jaime, 2023) Role Of Biotechnology in Agriculture (Shringarpure, 2022)
• Plants That Can be Used as Plant-Based Edible Vaccines; Current Situation and Recent Developments (İsmail, 2022)

As you can see, these research topics are a lot more focused than the generic topic ideas we presented earlier. So, in order for you to develop a high-quality research topic, you’ll need to get specific and laser-focused on a specific context with specific variables of interest.  In the video below, we explore some other important things you’ll need to consider when crafting your research topic.

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If you’re still unsure about how to find a quality research topic, check out our Research Topic Kickstarter service, which is the perfect starting point for developing a unique, well-justified research topic.

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Genetic mosaicism more common than thought

Blood stem cells from healthy people carry major chromosomal alterations, suggesting we are all genetic mosaics.

In a study led by Jan Korbel at the European Molecular Biology Laboratory (EMBL) and Ashley Sanders at the Berlin Institute for Medical Systems Biology of the Max Delbrück Center (MDC-BIMSB), researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations -- copy number variations and chromosomal rearrangements, for example -- without causing any apparent disease or abnormality. In addition, cell samples from people over the age of 60 tended to have higher numbers of cells with such genomic alterations, suggesting a previously unidentified mechanism that may contribute to ageing-related diseases. The study was published in the journal Nature Genetics .

"The study highlights that we are all mosaics," said Korbel, who is Senior Scientist in the Genome Biology Unit and Head of Data Science at EMBL Heidelberg. "Even so-called normal cells carry all sorts of genetic mutations. Ultimately, this means that there are more genetic differences between individual cells in our bodies than between different human beings."

Both Korbel and Sanders, Group Leader at the Max Delbrück Center study how genetic structural variation -- deletions, duplications, inversions, and translocations of large sections of the human genome -- contributes to the development of disease. In the cancer field, it is well known that genetic mutations can cause cells to grow out of control and lead to the formation of a tumour, explained Sanders. "We are applying similar concepts to understand how non-cancerous diseases develop," she added.

The discovery was enabled by a single-cell sequencing technology called Strand-seq, a unique DNA sequencing technique that can reveal subtle details of genomes in single cells that are too difficult to detect with other methods. Sanders is a pioneer in the development of this technology. As part of her doctoral research, she helped develop the Strand-seq protocol, which she later honed with colleagues while working as postdoctoral fellow in Korbel's lab.

Strand-seq enables researchers to detect structural variants in individual cells with better precision and resolution than any other sequencing technology allows, Sanders said. The technology has ushered in an entirely new understanding of genetic mutations and is now being widely used to characterise genomes and to help translate findings into clinical research.

"We are just recognising that contrary to what we learned in textbooks, every cell in our body doesn't have the exact same DNA," she said.

Genetic mosaicism is common

The study represents the first time anyone has used Strand-seq technology to study mutations in the DNA of healthy people. The researchers included biological samples from a range of age groups -- from newborn to 92-years-old -- and found mutations in blood stem cells, which are located in the bone marrow, in 84% of the study participants, indicating that large genetic mutations are very common.

"It's just amazing how much heterogeneity there is in our genomes that has gone undetected so far," said Sanders. "What this means in terms of how we define normal human ageing and how this can impact the types of diseases we get is really an important question for the field."

The study also found that in people over the age of 60, bone marrow cells carrying genetic alterations tended to be more abundant, with populations of specific genetic variants, or sub-clones, more common than others. The frequent presence of these sub-clones suggests a possible connection to ageing.

But whether the mechanisms that keep sub-clones from proliferating in check break down as we age, or whether the expansion of sub-clones itself contributes to diseases of ageing is not known, said Korbel. "In the future, our single cell studies should give us clearer insights into how these mutations that previously went unnoticed affect our health and potentially contribute to how we age."

• Human Biology
• Personalized Medicine
• Biotechnology
• Biochemistry Research
• Gene therapy
• Bone marrow
• Cell (biology)
• Adult stem cell
• Chemotherapy

Story Source:

Materials provided by European Molecular Biology Laboratory . Note: Content may be edited for style and length.

Journal Reference :

• Karen Grimes, Hyobin Jeong, Amanda Amoah, Nuo Xu, Julian Niemann, Benjamin Raeder, Patrick Hasenfeld, Catherine Stober, Tobias Rausch, Eva Benito, Johann-Christoph Jann, Daniel Nowak, Ramiz Emini, Markus Hoenicka, Andreas Liebold, Anthony Ho, Shimin Shuai, Hartmut Geiger, Ashley D. Sanders, Jan O. Korbel. Cell-type-specific consequences of mosaic structural variants in hematopoietic stem and progenitor cells . Nature Genetics , 2024; DOI: 10.1038/s41588-024-01754-2

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Genetic engineering feat coaxes yeast to produce valuable vaccine compound

By James Urquhart 2024-05-30T08:30:00+01:00

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Yeast has been engineered to perform the complete biosynthesis of QS-21, a potent and highly sought-after saponin-based adjuvant that boosts the immune response to certain vaccines.

Source: © Getty Images

Currently, the important vaccine adjuvant QS-21 is isolated from the soapbark tree that can only be found in Chile

The work represents one of the longest biosynthetic pathways ever transplanted into an organism, introducing 38 enzyme-encoding genes from six different species into yeast. The approach promises to enable a scalable, sustainable and cheaper way to make QS-21, as well as aid the design of new adjuvants.

Researchers have focused on the soap-like compound QS-21 as a vaccine adjuvant since the late 1990s for its ability to activate the immune system. Currently, it’s the only saponin-based vaccine adjuvant approved for clinical use in commercial vaccines, including ones for shingles, malaria and Covid-19, something which prompted concerns about QS-21 availability during the pandemic.

’From a world health perspective, there’s a lot of need for an alternative source of this adjuvant,’ says Jay Keasling at the University of California, Berkeley, US, who spearheaded the work with an international team of collaborators.

QS-21 is usually isolated from the bark of the soapbark tree, Quillaja saponaria , which is only found in Chile. Demand for QS-21 is high but supplies are limited because harvesting the bark requires mature trees and is tightly regulated. What’s more the isolation and purification of QS-21 from the mixture of compounds in bark extract is laborious, costly, uses toxic chemicals and has low yields.

Total synthesis of QS-21 has been previously achieved. However, it required the synthesis of an intermediate chemical first, takes 76 steps owing to the molecule’s complex structure – a glycosylated triterpene scaffold core coupled to a complex glycosylated 18-carbon acyl chain – and yields are poor.

One company, Botanical Solution in California, claims to have solved the supply and cost issues by devising and commercialising a plant tissue culture method to extract QS-21 using soapbark seedlings grown in the lab. Meanwhile, industry-led research published in March this year involving a number of biotech companies, presented another viable production route via cultured plant cells.

Keasling, however, thinks yeast offers the ideal alternative. ‘I want to make everything from a single sugar,’ he says. ‘I’d like to start with glucose, so when the production is performed in large tanks, they’re able to produce QS-21 as easily and inexpensively as possible.’

Pathway to success

The bioengineering feat of making QS-21 in yeast was possible following work published in January this year by some of the same team, including Keasling and Anne Osbourne at the John Innes Centre in Norwich, UK. They identified the complete 20-step biosynthetic pathway of QS-21, reproducing it in tobacco.

To reconstitute this pathway in yeast and make QS-21 from just glucose and galactose, the team first upregulated and fine tuned the passage of metabolites in the yeast strain’s native mevalonate pathway to produce quillaic acid, a key component of QS-21 synthesis. Meanwhile, using Crispr genome editing, enzyme-encoding genes from six other organisms, including plants that produce structurally similar saponins, fungi and bacteria were inserted. In total 38 enzymes spanning seven enzyme families were introduced, while ensuring critical metabolic pathways were unaffected for the yeast’s growth and survival.

‘This is a masterpiece of metabolic engineering, which shows how recent advances in synthetic biology like Crispr–Cas9 can be used to accelerate the discovery and engineering of pathways for the production of highly valuable molecules,’ says synthetic biologist Rodrigo Ledesma Amaro at Imperial College London, UK. ‘This is also a fantastic example of how microbial bioproduction can be an alternative to unsustainable plant extraction practices.’

‘The scale of the work undertaken in the study is quite extraordinary. It’s certainly up there as one of the most complex feats of metabolic engineering,’ says Paul Race , who researches natural product biosynthesis at Newcastle University, UK. ‘Work of this type is fraught with complications and I am in no doubt that a Herculean effort has been needed to get the system working as well as it does.’

However, both Amaro and Race note that low yields are an issue. Currently, it takes three days for the engineered yeast to produce around a third of the amount of QS-21 that the cells of the soapbark tree produces. Nevertheless, Keasling points out that yeast is around 1000 times faster than trees because only mature trees produce QS-21. ‘Even at the levels we’re producing it, it’s cheaper than producing it from the plant.’

‘Significant optimisation of the yeast platform is still required to achieve the yields needed to make this a viable route for QS-21 production at scale,’ Race comments. ‘This study represents the start of a journey that will hopefully result in access to this important molecule via a route that is uncoupled from the well-documented issues of isolation from the soapbark tree.’

Y Liu et al , Nature , 2024, DOI: 10.1038/s41586-024-07345-9

• biosynthesis
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Exploring Immunogenetics in Immune-Mediated Inflammatory Diseases: Unveiling Genetic Insights for Precision Medicine

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Immune-mediated inflammatory diseases (IMIDs) constitute a diverse group of chronic conditions characterized by dysregulated immune responses, resulting in inflammation and tissue damage. These diseases, including Rheumatoid Arthritis, Psoriasis, Inflammatory Bowel Disease, Sjögren’s Syndrome, Systemic Lupus Erythematosus, and pathologies within other relevant disciplines, affect millions of individuals worldwide, presenting significant challenges to patients and healthcare systems. Despite their varied clinical presentations, IMIDs share common underlying immunological mechanisms. Understanding the genetic basis of these diseases is pivotal for unraveling their pathogenesis, identifying biomarkers, and developing targeted therapies. In this research topic, we aim to explore the intricate relationship between immunogenetics and IMIDs. The field of immunogenetics investigates how genetic factors influence immune responses and contribute to disease susceptibility. By focusing on key genetic determinants, we aim to pave the way for precision medicine approaches in IMIDs. Our interdisciplinary approach brings together experts from genetics, immunology, rheumatology, gastroenterology, dermatology, pulmonology, and related fields to foster collaboration, stimulate innovative research, and advance our understanding of the genetic underpinnings of IMIDs. We invite contributions in the following areas: • IMID Genetics: - Explore the genetic roots of IMIDs and their impact on disease pathogenesis and progression. - Investigate specific gene variants associated with IMIDs. - Consider the interplay between genetic susceptibility and environmental factors. • IMID Biomarkers & Therapies: - Research biomarker identification for IMIDs to enhance precision treatments. - Develop targeted therapies based on immunogenetic insights. - Address challenges related to individualized patient management. • Interdisciplinary IMID Studies: - Encourage collaborative research across disciplines (genetics, immunology, rheumatology, cardiology, etc.). - Innovate IMID research by integrating diverse perspectives. Through original research articles, reviews, and perspectives, we aim to deepen our understanding of immunogenetics in IMIDs and improve patient outcomes. Researchers are invited to contribute to this exciting field and shape the future of IMID management. The authors should consult the last paragraph of the scope statement of the section, namely regarding the eligibility of submissions of research works based solely on bioinformatics: https://www.frontiersin.org/journals/genetics/sections/immunogenetics/about.

Keywords : Immunogenetics, Biomarkers, IMIDs, Genetic susceptibility, Precision medicine

Important Note : All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Ongoing clinical trials offer hope for people born with genetic mutation behind fibrodysplasia ossificans

by Bob Yirka , Medical Xpress

Several teams of medical researchers are currently testing new therapies for slowing or stopping the excess or runaway bone growth associated with fibrodysplasia ossificans progressive (FOP)—a rare bone disease.

The team behind one such effort, with members from Blueprint Medicines Corporation, Invicro and Alexion Pharmaceuticals, all in the Boston area, have published their findings in the journal Science Translational Medicine.

Until recently, it was not known what causes FOP—a disease so rare that only 8,000 people are currently under treatment for it. Then, in 2006, it was found to be genetically based—all of those with the affliction have a mutation in their ALK2 gene. It is still not clear how the gene causes excess amounts of bone growth, but researchers suspect the involvement of messaging that incites overactivation of stem cells.

The only treatment for the condition, until recently, has been surgery to remove excess bone, which has often led to accelerated bone growth, making the problem worse. Because of that, FOP is considered to be a fatal disease, though it can take 50 years.

Recently, the drug palovarotene was approved by several countries for treatment of FOP, but it has issues. It cannot be taken by children because it stunts growth, and it is too expensive for most patients.

In their effort, the team in Boston developed a therapy called BLU-782—it works by binding to the signal proteins that are activated by the ALK2 mutation, preventing them from signaling. It showed promise in mouse models before the instigation of clinical trials.

Preliminary results have shown administration of limited amounts of their small-molecule therapy has led to reductions in edema and prevention of cartilage and heterotopic ossification in both muscle tissue and bone injury sites.

Work is also progressing by four other teams involving 13 companies actively looking to develop treatments FOP—three are also in clinical trials. Those three are looking to prevent signaling from ALK2 by striking at its source. It is not yet clear how well such efforts are performing.

One thing all the efforts have in common is their focus on stopping the progression of the disease—preventing it would involve genetic engineering to repair the faulty gene.

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Cancer genetics is the study in humans and other animals of heritable gene variants that cause or confer altered risk of tumour or hematological malignancy. Individual cancer risk varies and is influenced by familial and sporadic oncogene or tumour suppressor gene mutations as well as rare and common constitutional variants present in the population.

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New Research Reveals That Exercise Can Rewire Brains and Erase Traumatic Memories

By Kyushu University May 27, 2024

Researchers from the University of Toronto and Kyushu University have found that enhancing neuron formation and neural circuit rewiring in the hippocampus through exercise or genetic manipulation can help mice forget traumatic or drug-associated memories. Their study suggests new methods for treating mental health issues like PTSD and drug addiction, emphasizing the effectiveness of exercise alongside potential genetic interventions. Credit: SciTechDaily.com

Enhanced neuron growth in the hippocampus, achieved through exercise or genetic methods, aids mice in forgetting strong, maladaptive memories, offering potential for new treatments for PTSD or drug addiction.

Researchers at the University of Toronto , Canada, and Kyushu University , Japan, discovered that enhancing neuron production and subsequently altering neural connections in the hippocampus—through exercise or genetic intervention—enables mice to forget memories associated with trauma or drugs. The findings, reported in the journal Molecular Psychiatry , could offer a new approach to treating mental health conditions like post-traumatic stress disorder (PTSD) or drug addiction.

PTSD is a mental health condition that can be triggered by experiencing or seeing a traumatic event, such as a natural disaster, serious accident, or attack. Worldwide, around 3.9% of the general population has PTSD, with symptoms including vivid flashbacks and avoidance behaviors, such as staying away from places or pushing away people that remind them of the traumatic event.

Currently, PTSD is often treated through therapy or medications such as anti-depressants. However, many people do not respond effectively, so researchers are still looking for different treatments.

Study Details and Neurogenesis

In this study on mice, Assistant Professor Risako Fujikawa from Kyushu University’s Faculty of Pharmaceutical Sciences, her former supervisor Professor Paul Frankland from the University of Toronto, and their team members including Adam Ramsaran focused on how neurogenesis—the process of forming new neurons—in the hippocampus impacts the ability to forget fear memories. The hippocampus, a brain region important for forming memories linked to specific places and contexts, produces new neurons daily in an area called the dentate gyrus.

“Neurogenesis is important for forming new memories but also for forgetting memories. We think this happens because when new neurons integrate into neural circuits, new connections are forged and older connections are lost, disrupting the ability to recall memories,” explains Fujikawa. “We wanted to see if this process could help mice forget stronger, traumatic memories too.”

Exercise-induced formation of neurons and genetically-inducted neuron growth rewired neural circuits in the hippocampus, helping mice forget traumatic memories and reducing their PTSD-like symptoms. Credit: Risako Fujikawa, Kyushu University and Hospital for Sick Children

Experimentation and Findings

The researchers gave mice two strong shocks in different settings. First, the mice were shocked after leaving a brightly lit, white box and entering a dark, ethanol-scented compartment. After the second shock in another distinct environment, the mice showed PTSD-like behaviors. Over a month later, the mice were still fearful and hesitant to enter the original dark compartment, indicating they couldn’t forget the traumatic memory. This fear extended to other dark compartments, showing generalized fear. Additionally, the mice explored less in open spaces and avoided the center, suggesting anxiety.

The researchers then explored whether these PTSD-like behaviors could be alleviated through exercise, which studies had shown boosted neurogenesis. The double-shocked mice were split into two groups and one group was provided with a running wheel. Four weeks later, these mice showed increased numbers of newly-formed neurons in their hippocampi, and importantly, the PTSD-like behaviors were less severe, compared to the double-shocked mice without wheel access.

Furthermore, when the mice were free to exercise before the second shock, it also prevented some PTSD-like behaviors from developing.

Genetic Approaches to Enhancing Neurogenesis

However, since exercise impacts the brain and body in many different ways, it wasn’t clear whether the effect of exercise was due to hippocampal circuit rewiring by neurogenesis, or other factors. The researchers therefore used two different genetic approaches to assess the impact of newborn neuron integration into the hippocampus, exclusively.

Firstly, the researchers used a technique called optogenetics, where they added light-sensitive proteins to newly formed neurons in the dentate gyrus, allowing the neurons to be activated by light. When they shone blue light on these cells, the new neurons matured faster. After 14 days, the neurons had grown longer, had more branches, and integrated more quickly into the neural circuits of the hippocampus.

In the second approach, the research team used genetic engineering to remove a protein in the newly formed neurons that slows down neuron growth. This also resulted in the neurons growing faster and increased incorporation into neural circuits.

When activated with light, newly-formed neurons in the hippocampus grew faster and showed more branching. Credit: Paul Frankland; University of Toronto

Both these genetic approaches reduced PTSD-like symptoms in mice after double-shocking and shortened the time taken for the mice to forget the fear memory. However, the researchers found that the effect was weaker than they saw with exercise, and did not reduce the level of the mice’s anxiety.

“It could be that the neurogenesis and the re-modeling of the hippocampus circuits disrupt fear memory, but have less effect on mood or emotions,” suggests Fujikawa. “Exercise also has broader physiological effects, which may contribute to the stronger outcomes seen.”

Finally, the research team explored whether increased neurogenesis and hippocampus re-modeling could also help in other mental disorders where memory plays an important role, such as substance use disorders. For people battling drug dependency, relapse often happens when reminders, like being in a similar environment where the drug was used, trigger powerful cravings.

The researchers placed mice in a cage with two rooms. In one room, the mice were given a saline solution and in the other room, they were given cocaine. Afterward, when given free access to both rooms, the mice spent more time in the room in which they had received cocaine.

However, when the researchers used exercise and genetic methods to boost neurogenesis and hippocampus re-modeling, they found that the mice stopped showing a preference for the room where they had taken cocaine, suggesting the mice had forgotten the link between the room and the drug.

For future research, Risako is planning to find a drug that can boost neurogenesis or hippocampus re-modeling, in the hopes that it could be tested as a potential treatment for PTSD and drug dependence. However, she also stressed the importance of exercise.

“In our experiments, exercise had the most powerful impact on reducing symptoms of PTSD and drug dependence in mice, and clinical studies in humans also show it is effective,” says Risako. “I think this is the most important takeaway.”

Reference: “Neurogenesis-dependent remodeling of hippocampal circuits reduces PTSD-like behaviors in adult mice” by Risako Fujikawa, Adam I. Ramsaran, Axel Guskjolen, Juan de la Parra, Yi Zou, Andrew J. Mocle, Sheena A. Josselyn and Paul W. Frankland, 8 May 2024, Molecular Psychiatry . DOI: 10.1038/s41380-024-02585-7

The study was funded by the Canadian Institutes of Health Research, the National Institute of Mental Health, the Japan Society for the Promotion of Science, and the National Institutes of Health .

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Findings eventually could pave way to earlier diagnosis, treatment, and affect search for new therapies

A recent study published in Nature Medicine offers evidence that genetics may be a direct cause of a specific form of Alzheimer’s disease and not merely a risk factor. While most patients currently do not have a clearly identified cause of this devastating illness, researchers found that people with two copies of the gene variant APOE4 are at extremely high risk of developing Alzheimer’s. The finding led them to recommend a new designation that takes this into account, which could lead to up to a fifth of Alzheimer’s patients being classified as having a genetically caused form of the disease. The shift eventually could lead to earlier diagnosis and treatment and affect the search for therapies. Reisa Sperling , a neurologist at Mass General Brigham and an author of the study, explains the importance of the findings. This interview has been edited for clarity and length.

Your study highlights a new, clearly identified genetic component to Alzheimer’s disease worthy of a new designation. Could you explain why that’s significant?

Designating this form of Alzheimer’s disease means a group of people who are extremely likely — I won’t say absolutely, but extremely likely — to develop Alzheimer’s could be treated earlier. This could really have an impact on preventing dementia.

The second thing is there’s been an ongoing debate about whether Alzheimer’s disease has anything to do with amyloid plaques or not. And in this group, they begin to have buildup of amyloid plaques and tau tangles in their late 50s and early 60s, and the likelihood that they will develop symptoms of Alzheimer’s disease is extremely high. So it creates another link in our understanding of the disease process.

And finally, this is a bridge between the rare forms of genetically determined Alzheimer’s disease that are 100 percent penetrant and often affect people in their 40s and 50s. Those cases are often considered such a rarity that they’re not representative of Alzheimer’s disease. So people with two copies of APOE4 are a bit in the middle. This new study really suggests that their biomarkers are similar to what we see in these rare autosomal dominant diseases, and over 90 percent will develop Alzheimer’s pathology in their brains. It links the rare genetic forms of Alzheimer’s to what we call sporadic late-onset Alzheimer’s disease.

Part of this new classification would also make this type of Alzheimer’s one of the most common genetic disorders in the world. Are there benefits to having it classified that way?

I don’t know that I’m the best person to opine on that, but I certainly think there may be important reasons. For example, eventually getting insurance coverage for individuals who are below the age of 65 and need rapid evaluation and treatment for Alzheimer’s disease. Alzheimer’s disease often doesn’t get diagnosed in these individuals because people think they’re too young. Additionally, they may not have insurance coverage for all of the medications required for treatment.

I do think it is important that this is recognized as one of the more common genetic links to Alzheimer’s disease and leads the way to one day being able to treat people who have a strong family history and genetic predisposition. Then we can really think about being aggressive and treating patients early.

“Somehow, we have to turn these findings to — instead of being scary for people — being a sense of hope.” Reisa Sperling

We’ve known for a long time that there is a genetic component to Alzheimer’s disease. Is this one of the first studies to show such a specific genetic link?

No. As I mentioned there are these rare genes that we’ve known for more than 20 years that are very specific and cause Alzheimer’s disease at a much younger age. But this data really suggests that people who have two copies of this particular allele, APOE4, have such a high likelihood of developing Alzheimer’s disease.

So it’s not the first genetic link, but it is the first large study that convincingly says having two copies of this gene really increases the likelihood you will have Alzheimer’s disease. And it’s a more common gene; these other known genes are very rare. But with APOE4, it’s estimated that up to 15 percent of Alzheimer’s patients carry two copies of these alleles (although I will say that estimate is a little different across studies). It is much more common than these very rare autosomal dominant forms.

How common is it in the general population to have two copies of that gene?

Estimated, about 2 percent of the population, so it’s not that common. People having at least one copy of APOE4 is fairly common. Depending on which part of the world you’re from, that can be up to 25 percent. But having two copies is still pretty rare.

There is still so much that we don’t know about Alzheimer’s, but it does seem to be fueled by both genetic and environmental factors. In what ways does this research help push our understanding of the disease overall?

That’s a great question. And for me, this research really does provide support to both camps. One, the likelihood that people with these genes will develop amyloid plaque by the time they’re age 65 is somewhere between 75 and 95 percent. To me that suggests that it is genetically driven.

But there is a variability in the range of when people develop symptoms. And that suggests that there might be environmental or lifestyle factors that can make people’s brains more resilient, or conversely, more vulnerable. This research really supports both ideas that genetics is a major driver in Alzheimer’s disease, but you can modulate your risk of showing symptoms.

Would it be beneficial for people to know early on if they are carriers of these genes?

At this moment, I do not recommend that people who don’t have symptoms get genetic testing or blood-based biomarker testing. I hope that recommendation will change greatly over the next few years.

There are large-scale clinical trials, including the one I run . We’re recruiting people who have evidence of amyloid buildup, but don’t yet have symptoms, and we’re recruiting a lot of people with a family history and have copies of APOE4. If that study and other studies like it succeed in treating people before they have symptoms, then I would recommend testing and trying to get treatment as soon as possible.

But we don’t have that available right now, and I just think we don’t yet know what to do with that information before people have symptoms.

If this new classification did occur, what areas of further research would you be most excited to pursue?

Number one for me is we need to be able to offer treatments to those patients. Right now, there’s actually a black-box warning on some currently approved Alzheimer’s treatments that cautions treating people who have two copies of APOE4 because the risk of side effects is so great. I want to redouble my efforts to make sure we can offer disease-modifying medications in a safe way.

Number two is about the environment. I’m quite interested in what it is that modulates whether people get symptoms sooner rather than later, with this buildup of amyloid that’s genetically determined. How do we understand what factors were protective? That’s a very important area of research to help us understand what can modulate people’s risk of symptoms in the setting of a very strong genetic predisposition.

We talk about this in the study, but I think it’s also important to mention that these studies mostly observed white majority populations. And one of the things we desperately need to know is whether these findings are also true in more ethnic and racially diverse populations. There is some evidence that APOE4 might have a slightly different effect on amyloid in populations who come from communities of color.

Similarly, there are slight differences in the sex effects: Women APOE4 carriers have more likelihood of developing symptoms. I think it’s really important to get more information on representative populations, especially from communities of color, and really help us develop treatments that will work best for everybody.

For people who have Alzheimer’s or loved ones with Alzheimer’s, how do these findings offer hope or shed light on the disease?

This is another tool to be able to find people who have Alzheimer’s disease at an earlier stage and treat them earlier. My dad and my grandfather died of this disease, and I’m a clinical neurologist. When I see people with symptoms, I think this is helping us learn about the underlying causes and will help us in accelerating to find good treatments.

I think it will both help the next generation of people who are likely to develop Alzheimer’s disease, but it will also help us treat people who already have Alzheimer’s disease symptoms because every little bit of information helps us develop better treatments for all.

I really hope this research doesn’t have the effect of just scaring people. I hope it will instead say, “These are important clues so that we can treat people earlier and hopefully prevent dementia.”

Somehow, we have to turn these findings to — instead of being scary for people — being a sense of hope. I hope this means we will be able to find people and treat them before they develop symptoms.

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