On June 5 a three-day conference exploring the issues that spring from the ethical, legal and social implications of genomic research kicks off at UConn Health and the Jackson Laboratory for Genomic Medicine located in Farmington, CT. The Genomics and Society: Expanding the ELSI Universe conference is funded by The National Human Genome Research Institute (NHGRI) through a grant to Columbia University Medical Center (CUMC).
The prestigious keynote speaker of the international event is Stephanie Devaney, Ph.D., deputy director of the All of Us Research Program at the National Institutes of Health (NIH). In this Q & A article she discusses how the new frontier of precision medicine, fueled by genomics, is at the heart of all our future health and healthcare.
What truly influences one’s own health forecast or a patient’s outcomes?
That’s the million-dollar question, right? It’s exactly what we need to discover, and why the All of Us Research Program has such great potential. Right now, we know about certain risk factors—lack of exercise, poor air quality, or specific genetic markers, for instance. But there are certainly many more influences that we haven’t identified yet. And we have a lot left to learn about how these factors work in combination to influence a person’s health. With All of Us, we want to build a data resource that’s so large and diverse, both in terms of our participants and the data types they share, that researchers will be able to discover trends that they couldn’t see on a smaller scale. Over time, with efforts such as All of Us—and others that started before—we’ll have clearer answers to this question.
How quickly do you see precision medicine targeting individual patients’ genomics evolving from cancer care to treatment of other diseases?
We’ve already seen precision medicine successes beyond cancer—in cystic fibrosis, for example—but we still have a long way to go before precision medicine approaches are common across all health conditions. This is a long-term effort. The path from basic research to clinical trials to changes in the standard of care takes years. But that’s where we think the All of Us Research Program can help. Our whole mission is to speed up research, to get more knowledge in the hands of providers and patients, so they can make more informed decisions. By making the data we collect broadly available, so researchers don’t have to spend their limited time and money assembling separate cohorts and curating separate datasets, we hope that those breakthroughs can happen much faster.
We’ll be asking the community—researchers from academia and industry, providers, participants, patient advocates, patients themselves, and funders—what types of data we need to add to All of Us over time so that we can answer some of the most vexing health questions, especially ones that we can best answer at this scale. And we’ll work to level the playing field so that researchers from many backgrounds, and not just those who are experts in bioinformatics or epidemiology, can use the data. This will certainly add a fresh perspective to health research.
How are ‘All of Us’ at the heart of advancing genomics-based medicine?
I’m so glad you asked this question. Genomics is a central part of the All of Us Research Program, but our contributions will go far beyond that. We know that our DNA is important to who we are, but so many other factors affect our health, too—from where we were born and live, to the food we eat, to how much sleep we get, to how connected we feel to friends and family. The All of Us Research Program will offer value by helping researchers look at genomics in combination with many other factors.
That said, we will ultimately have genomic data on a large number of individuals, and that combined with sequence data that already exist from the many studies that have come before All of Us, can get us closer to more integration of genomic information into medical practice. We’ve seen some of this in the fields of cancer and pharmacogenetics, where providers are able to use genetic information to prescribe the most safe and effective drugs to treat their patients.
One thing that’s critical, though, is that researchers can’t draw meaningful conclusions about individual differences, genetic or otherwise, unless we have information from many different people. We want to engage a diverse community of 1 million or more research participants from all parts of the country, including those from communities that have been traditionally underrepresented in biomedical research. We want to involve people both healthy and sick, of all races and ethnicities, genders and sexual orientations, and education and income levels, from the most rural to the most urban settings. And then the data we collect will be a platform to support thousands of studies—on a range of different topics, bringing us new insights into genomics and health and disease more broadly.
How can the average person get involved and make a difference in the All of Us project?
After we complete beta testing, we plan to open enrollment nationally at the end of this year or early next year. We’ll spread the word widely when that happens, and we’ll be eager for folks to enroll. This isn’t a research study with narrow eligibility criteria; we want all types of people to join. In the meantime, anyone can sign up at our website to express interest and receive updates: https://allofus.nih.gov/.
In the early days, our program will gather a fairly limited set of data, but we’ll expand as we go—eventually incorporating wearable technologies and more in-depth surveys. We’ll also let participants know about other opportunities to participate in research, through clinical trials or other ways. The longer people participate—and we hope it’s for many years, or even a lifetime—the more we stand to learn.
We’ll also be looking to our participants to give us feedback about how to make the program better. I think we’ll learn a lot about what it takes to do research that’s truly participant-focused, responsive to what participants want and need. We won’t just ask researchers what types of studies they think All of Us is the right platform for; we’ll be asking individuals and communities to tell us what knowledge they hope comes from their contribution to the program.
When do you predict genomic testing services and technologies will expand widely into the clinics, community and even patient homes?
This is a complicated question, because while we think of genomic testing as being in its infancy, in many ways, it’s already becoming part of our everyday lives. Last year, 23andMe marked the sequencing of their one millionth client. Today, you can walk into a drugstore and buy a genetic paternity test. You can even buy a test that tracks the genetic ancestry of your dog. Services and products are sprouting up all over, signaling significant public interest in the possibilities that genomics holds for health and self-knowledge.
The clinical community, too, has begun to adopt genomic testing as a common part of clinical care, and the Food and Drug Administration is working on a framework to streamline the regulatory oversight for genomic tests. Currently, on average, the process of discovery of a genetic variant to use in routine clinical practice takes about 17 years. With the boom in variant discovery since the sequencing of the human genome, we are poised to experience a tidal wave of new information pouring into the clinical space in the next five to 10 years.
However, there is still a considerable way to go. Data sharing will help make this happen faster. It’s too difficult for every diagnostic developer or clinical site to generate enough evidence on a specific genetic region to call it clinically significant and ready for use in care. While several health provider organizations have instituted genomic medicine programs, these are still relatively rare and often operate in isolation from one another. In addition, there has yet to be widespread and meaningful integration of genomic information into the health record. Clinical decision support for genomic test results at the point of care is also largely absent. Efforts like those of the NHGRI’s ClinGen, eMERGE, and IGNITE projects strive to fill those voids, bringing organizations and information together to ready the clinical community for genomic medicine writ large.
What’s delaying the full realization of genetic testing?
In both the public and clinical spheres, a major hold-up to the full realization of genomic testing is education. Health care providers need to know about the available resources and how to effectively apply the information those resources provide in patient care. As genomics increasingly enters the public eye, the public, too, needs to be equipped with the tools necessary to make educated decisions about their health, to inform their use of direct-to-consumer products, and to critically evaluate information about genomics encountered in everyday life.
What ethical obligations may health care one day face to aid patients in the prevention and treatment of chronic disease, along with access to genomic testing and genomic-driven care?
Possibly the biggest responsibility the health care community faces in the nascent stages of genomic medicine, and precision medicine more broadly, is equity. A driving mission of the All of Us Research Program is ensuring that everyone has the opportunity to join this program if they want to and that everyone has the potential to benefit from the knowledge that comes from it, regardless of the social and biological factors that make each of us unique.
But the information a program like All of Us will produce is only as good as the use of that information. The information needs to be turned into clinical reality. It doesn’t matter if there’s a hypothetical genetic test out there that could tell you whether you’re susceptible to a disease or that you’ll respond to a particular course of treatment if that test isn’t available to you.
We stand on the cusp of an exciting era in medical history, but it can be classified as a triumph only if we move forward together, if the great strides in prevention, diagnosis, and treatment are experienced in every corner of society. Researchers and providers, as a community, play an integral role in ensuring that success. And while the ask is big, so is the opportunity.
For more information on the 2017 ELSI Congress happening June 5-7, visit: http://www.elsicon2017.org/.
