Genomics Beyond Health – Full Report (available online)

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DNA is the basis of all biological life and was first discovered in 1869 by the Swiss chemist Friedrich Miescher. A century of incremental discoveries led James Watson, Francis Crick, Rosalind Franklin, and Maurice Wilkins in 1953 to develop the now famous “double helix” model, consisting of two interlaced chains. With the final understanding of the structure of DNA, it took another 50 years before the complete human genome was sequenced in 2003 by the Human Genome Project.
The sequencing of the human genome at the turn of the millennium is a turning point in our understanding of human biology. Finally, we can read nature’s genetic blueprint.
Since then, the technologies we can use to read the human genome have advanced rapidly. It took 13 years to sequence the first genome, which meant that many scientific studies only focused on certain parts of the DNA. The entire human genome can now be sequenced in one day. Advances in this sequencing technology have led to major changes in our ability to understand the human genome. Large-scale scientific research has improved our understanding of the relationship between certain parts of DNA (genes) and some of our traits and traits. However, the influence of genes on various traits is a very complex puzzle: each of us has about 20,000 genes that operate in complex networks that affect our traits.
To date, the focus of research has been on health and disease, and in some cases we have made significant progress. This is where genomics becomes a fundamental tool in our understanding of health and disease progression. The UK’s world-leading genomics infrastructure places it at the forefront of the world in terms of genomic data and research.
This has been evident throughout the COVID pandemic, with the UK leading the way in genome sequencing of the SARS-CoV-2 virus. Genomics is poised to become the central pillar of the UK’s future healthcare system. It should increasingly provide early detection of diseases, diagnosis of rare genetic diseases and help better tailor health care to people.
Scientists are better understanding how our DNA is linked to a wide range of characteristics in areas other than health, such as employment, sports and education. This research has made use of the genomic infrastructure developed for health research, changing our understanding of how a wide range of human traits are formed and developed. While our genomic knowledge of unhealthy traits is growing, it lags far behind healthy traits.
The opportunities and challenges we see in health genomics, such as the need for genetic counseling or when testing provides enough information to justify its use, open a window into the potential future of non-health genomics.
In addition to the increased use of genomic knowledge in the healthcare sector, an increasing number of people are becoming aware of genomic knowledge through private companies that provide direct-to-consumer services. For a fee, these companies offer people the opportunity to study their ancestry and obtain genomic information about a range of traits.
Growing knowledge from international research has enabled the successful development of new technologies, and the accuracy with which we can predict human characteristics from DNA is increasing. Beyond understanding, it is now technically possible to edit certain genes.
While genomics has the potential to transform many aspects of society, its use can come with ethical, data and security risks. At the national and international levels, the use of genomics is regulated by a number of voluntary guidelines and more general rules not specifically for genomics, such as the General Data Protection Law. As the power of genomics grows and its use expands, governments are increasingly faced with the choice of whether this approach will continue to securely integrate genomics into society. Harnessing the UK’s diverse strengths in infrastructure and genomics research will require a coordinated effort from government and industry.
If you could determine if your child could excel in sports or academics, would you?
These are just some of the questions we are likely to face in the near future as genomic science provides us with more and more information about the human genome and the role it plays in influencing our traits and behaviors.
Information about the human genome—its unique deoxyribonucleic acid (DNA) sequence—is already being used to make some medical diagnoses and personalize treatment. But we are also beginning to understand how the genome influences the traits and behaviors of people beyond health.
There is already evidence that the genome influences non-health traits such as risk-taking, substance formation and use. As we learn more about how genes influence traits, we can better predict how likely and to what extent someone will develop those traits based on their genome sequence.
This raises several important questions. How is this information used? What does this mean for our society? How might policies need to be adjusted in different sectors? Do we need more regulation? How will we address the ethical issues raised, addressing the risks of discrimination and potential threats to privacy?
While some of the potential applications of genomics may not materialize in the short or even medium term, new ways to use genomic information are being explored today. This means that now is the time to predict the future use of genomics. We also need to consider the possible consequences if genomic services become available to the public before the science is really ready. This will allow us to properly consider the opportunities and risks that these new applications of genomics may present and determine what we can do in response.
This report introduces genomics to non-specialists, explores how the science has evolved, and attempts to consider its impact on various fields. The report looks at what might be happening now and what might happen in the future, and explores where the power of genomics may be overestimated.
Genomics is not just a matter of health policy. This could affect a wide range of policy areas, from education and criminal justice to employment and insurance. This report focuses on non-health human genomics. He is also exploring the use of the genome in agriculture, ecology and synthetic biology to understand the breadth of its potential uses in other areas.
However, most of what we know about human genomics comes from research examining its role in health and disease. Health is also a place where many potential applications are being developed. That’s where we’ll start, and Chapters 2 and 3 present the science and development of genomics. This provides context for the field of genomics and provides the technical knowledge necessary to understand how genomics affects non-health areas. Readers with no technical background can safely skip this introduction to Chapters 4, 5, and 6, which present the main content of this report.
Humans have long been fascinated by our genetics and the role it plays in our formation. We seek to understand how genetic factors influence our physical characteristics, health, personality, traits and skills, and how they interact with environmental influences.
£4 billion, 13 years of cost and time to develop the first human genome sequence (inflation-adjusted cost).
Genomics is the study of organisms’ genomes – their complete DNA sequences – and how all of our genes work together in our biological systems. In the 20th century, the study of genomes was generally limited to observations of twins to study the role of heredity and environment in physical and behavioral traits (or “nature and nurture”). However, the mid-2000s were marked by the first publication of the human genome and the development of faster and cheaper genomic technologies.
These methods mean that researchers can finally study the genetic code directly, at a much lower cost and time. Whole human genome sequencing, which used to take years and cost billions of pounds, now takes less than a day and costs about £800 [footnote 1]. Researchers can now analyze the genomes of hundreds of people or connect to biobanks containing information about the genomes of thousands of people. As a result, genomic data is being accumulated in large quantities for use in research.
Until now, genomics has been used mainly in healthcare and medical research. For example, identifying the presence of defective genetic variants, such as the BRCA1 variant associated with breast cancer. This may allow earlier preventive treatment, which would not be possible without knowledge of the genome. However, as our understanding of genomics has improved, it has become increasingly clear that the influence of the genome extends far beyond health and disease.
Over the past 20 years, the quest to understand our genetic structure has advanced significantly. We are beginning to understand the structure and function of the genome, but there is still much to learn.
We have known since the 1950s that our DNA sequence is the code that contains the instructions for how our cells make proteins. Each gene corresponds to a separate protein that determines the traits of an organism (such as eye color or flower size). DNA can influence traits through various mechanisms: a single gene can determine a trait (for example, ABO blood type), several genes can act synergistically (for example, skin growth and pigmentation), or some genes can overlap, masking the influence of different genes. genes. other genes (such as baldness and hair color).
Most traits are influenced by the combined action of many (perhaps thousands) of different DNA segments. But mutations in our DNA cause changes in proteins, which can lead to altered traits. It is the main driver of biological variability, diversity and disease. Mutations can give an individual an advantage or disadvantage, be neutral changes, or have no effect at all. They can be passed down in families or come from conception. However, if they occur in adulthood, this usually limits their exposure to individuals rather than their offspring.
Variation in traits can also be influenced by epigenetic mechanisms. They can control whether genes are turned on or off. Unlike genetic mutations, they are reversible and partly dependent on the environment. This means that understanding the cause of a trait is not just a matter of learning which genetic sequence influences each trait. It is necessary to consider genetics in a broader context, to understand networks and interactions throughout the genome, as well as the role of the environment.
Genomic technology can be used to determine the genetic sequence of an individual. These methods are now widely used in many studies and are increasingly being offered by commercial companies for health or ancestry analysis. The methods used by companies or researchers to determine someone’s genetic sequence vary, but until recently, a technique called DNA microarraying was most commonly used. Microarrays measure parts of the human genome rather than reading the entire sequence. Historically, microchips have been simpler, faster, and cheaper than other methods, but their use has some limitations.
Once data are accumulated, they can be studied at scale using genome-wide association studies (or GWAS). These studies are looking for genetic variants associated with certain traits. However, to date, even the largest studies have revealed only a fraction of the genetic effects underlying many of the traits compared to what we would expect from twin studies. Failure to identify all relevant genetic markers for a trait is known as the “missing heritability” problem. [footnote 2]
However, the ability of GWAS to identify related genetic variants improves with more data, so the problem of lack of heritability may be resolved as more genomic data is collected.
In addition, as costs continue to fall and technology continues to improve, more and more researchers are using a technique called whole genome sequencing instead of microarrays. This directly reads the entire genome sequence rather than partial sequences. Sequencing can overcome many of the limitations associated with microarrays, resulting in richer and more informative data. This data is also helping to reduce the problem of non-heritability, which means we are starting to learn more about which genes work together to influence traits.
Likewise, the massive collection of whole genome sequences currently planned for public health purposes will provide richer and more reliable datasets for research. This will benefit those who study healthy and unhealthy traits.
As we learn more about how genes influence traits, we can better predict how different genes might work together for a particular trait. This is done by combining putative effects from multiple genes into a single measure of genetic responsibility, known as a polygenic score. Polygenic scores tend to be more accurate predictors of a person’s likelihood of developing a trait than individual genetic markers.
Polygenic scores are currently gaining popularity in health research with the goal of one day using them to guide clinical interventions at the individual level. However, polygenic scores are limited by GWAS, so many have not yet predicted their target traits very accurately, and polygenic scores for growth achieve only 25% predictive accuracy. [Footnote 3] This means that for some signs they may not be as accurate as other diagnostic methods such as blood tests or MRI. However, as genomic data improve, the accuracy of polygenicity estimates should also improve. In the future, polygenic scores may provide information on clinical risk earlier than traditional diagnostic tools, and in the same way they can be used to predict non-health traits.
But, like any approach, it has limitations. The main limitation of GWAS is the diversity of the data used, which does not reflect the diversity of the population as a whole. Studies have shown that up to 83% of GWAS are performed in cohorts of exclusively European origin. [Footnote 4] This is clearly problematic because it means that GWAS can only be relevant to certain populations. Therefore, the development and use of predictive tests based on GWAS population bias results may lead to discrimination against people outside the GWAS population.
For non-health traits, predictions based on polygenic scores are currently less informative than available non-genomic information. For example, polygenic scores for predicting educational attainment (one of the most powerful polygenic scores available) are less informative than simple measures of parental education. [Footnote 5] The predictive power of polygenic scores will inevitably increase as the scale and diversity of studies, as well as studies based on whole genome sequencing data, increase.
Genome research focuses on the genomics of health and disease, helping to identify parts of the genome that affect disease risk. What we know about the role of genomics depends on the disease. For some single-gene diseases, such as Huntington’s disease, we can accurately predict a person’s likelihood of developing the disease based on their genomic data. For diseases caused by many genes combined with environmental influences, such as coronary heart disease, the accuracy of genomic predictions was much lower. Often, the more complex a disease or trait, the more difficult it is to accurately understand and predict. However, predictive accuracy improves as the cohorts studied become larger and more diverse.
The UK is at the forefront of health genomics research. We have developed a massive infrastructure in genomic technology, research databases and computing power. The UK has made a major contribution to global genome knowledge, especially during the COVID-19 pandemic when we led the way in genome sequencing of the SARS-CoV-2 virus and new variants.
Genome UK is the UK’s ambitious strategy for genomic health, with the NHS integrating genome sequencing into routine clinical care for the diagnosis of rare diseases, cancer or infectious diseases. [footnote 6]
This will also lead to a significant increase in the number of human genomes available for research. This should allow for broader research and open up new possibilities for the application of genomics. As a global leader in the development of genomic data and infrastructure, the UK has the potential to become a global leader in the ethics and regulation of genomic science.
Direct Consumption (DTC) genetic testing kits are sold directly to consumers without the involvement of health care providers. Saliva swabs are sent for analysis, providing consumers with a personalized health or origin analysis in just a few weeks. This market is growing rapidly, with tens of millions of consumers around the world submitting DNA samples for commercial sequencing to gain insight into their health, lineage and genetic predisposition for traits.
The accuracy of some genome-based analytics that provide direct-to-consumer services can be very low. Tests can also impact personal privacy through data sharing, identification of relatives, and potential lapses in cybersecurity protocols. Customers may not fully understand these issues when contacting a DTC testing company.
Genomic testing of DTCs for non-medical traits is also largely unregulated. They go beyond the legislation governing medical genomic testing and rely instead on the voluntary self-regulation of test providers. Many of these companies are also based outside the UK and are not regulated in the UK.
DNA sequences have a unique power in forensic science to identify unknown individuals. Basic DNA analysis has been widely used since the invention of DNA fingerprinting in 1984, and the UK National DNA Database (NDNAD) contains 5.7 million personal profiles and 631,000 crime scene records. [footnote 8]