Guest post: research and clinical genomics are converging

14 Jun 2019

GA4GH Chair Ewan Birney participated in the creation of the first reference human genome and is now involved in the roll-out of large-scale clinical genomics. His story is illustrative of a much bigger movement of genomics into healthcare over the past decade.

I am lucky to have both participated in the creation of the first reference human genome and to now be involved in the roll-out of large-scale clinical genomics. It is gratifying to see aspects of my own research move from basic science into a practical healthcare setting, but my individual story is illustrative of a much bigger movement of genomics into healthcare over the past decade.

Given the continued drop in sequencing prices, an expanding portion of the population will be sequenced as part of cancer care or to ascertain a  particular individual’s genetic disease; and it seems probable that many healthcare systems in many countries will sequence children at birth instead of, or in addition to, performing the standard blood tests for inherited metabolic disorders. Across the entire developed world, this will mean a large number of people—at least in the hundreds of millions, and eventually billions—will be sequenced for one reason or another.

This is a remarkable opportunity for research. Groups around the world, including many of our Driver Projects (e.g., Genomics England, Australian Genomics, GEM-Japan), are already merging genomics research and healthcare delivery. The details in each country are fearsomely different; the general theme is remarkably similar.

I’m of the firm belief this work will have as much of an impact on basic research—on how life works at a molecular, cellular, and physiological level—as on disease research. After all, many of the measurements taken in the clinic relate to fundamental physiological processes. It will be critical to apply the experimental rigor of defined perturbations used in many animal and model systems to the molecules and physiology of humans—a perfectly standard mammalian species.

Not only are we a single species, we are a tight, not very diverse species.  Our rapid expansion from Africa means we all share the same ancestors. We reproduce among ourselves freely, and our history is one of near constant movement and mixing. This means that—despite significant variability in our cultures—human biology is remarkably universal. As such, knowledge of human physiology must also be universal and must be shared among us all, just as any other piece of scientific knowledge. Since the sequencing of the first human reference genome, our community has held close to this value.

While sharing data is inherent for many basic researchers in molecular biology, individual level human data is sensitive and must be handled with care according to national legislation and ethical structures. Organizations such as Genomics England, Australian Genomics, and the US All of Us Research Program are beginning to collect human level data and a network of collaborating institutes—including EMBL-EBI, the institute of which I am joint director, NCBI in the US, and the ELIXIR nodes across Europe—are working to ensure the approaches we’ve developed for sharing basic biology data can be translated for the medical field. Thus will we be able to capture, maintain, transform, and distribute this information in a way that is responsible, privacy preserving, and ethical.

I have painted a picture of an unprecedented opportunity to study millions if not hundreds of millions of humans as a result of the advent of genomic medicine, but an experienced genomicist or clinician can easily mount a host of practical, ethical, and logistical concerns.

However, the work of this community—all of you within the Global Alliance for Genomics and Health—will help ease these challenges by producing the standards needed to enable responsible data sharing. Together we are activating the universal human right to both participate in and benefit from science.

Humans are amazing molecular machines, almost unfathomable in our complexity. To understand how this machinery works, in both health and disease, requires all our collective effort to use all the opportunities afforded to us, and that effort must be pooled and shared as science has done since the Renaissance.

If we do not do this, we will understand less and allow more unnecessary suffering to occur in this world. As both researchers and as citizens of the world, it is our collective duty to make this possible.

I am honored to be a part of this community and the important work we are undertaking together.