16 years after the completion of the Human Genome Project (HGP), scientists are looking to push the boundaries of genomic research once again. This time, researchers are undertaking the mammoth task of sequencing the genome of one million individuals in the United States.
The All of Us research program is a key component of the Precision Medicine Initiative. The initiative looks to enable a new era in medicine in which researchers, health care professionals and patients work together to develop individualized care.
The project is a participant-engaged enterprise that looks to incorporate human biology, behavior, genetics, environment, data science and computation to facilitate improved understanding in disease and its heterogeneity.
Technology Networks recently spoke with Josh Denny, M.D, M.S. principal investigator of the All of Us Data Research Center, and professor of biomedical informatics and medicine at Vanderbilt University Medical Center. We wanted to know more about the aims of the project and the logistics involved with sequencing the genome of over one million people.
Molly Campbell (MC): Please can you outline the key aims and objectives of the All of Us project. Why is it a pertinent time to run such a project?
Josh Denny (JD): Our mission is to accelerate health research and medical breakthroughs, enabling individualized prevention, treatment, and care for all of us. We aim to do that by partnering with one million or more people from all walks of life across the United States, who will share different kinds of health information over time to help us build one of the world’s largest, most comprehensive biomedical data platforms for research. With this data, researchers can learn more about how individual differences in lifestyle, environment, and genes influence health and disease, which may lead to new precision medicine discoveries.
We feel that the time is right for a project like this, in part because of advances in science and technology that enable us to build and analyze large datasets more easily than ever before. At the same time, we’re seeing a growing number of people wanting to become more engaged in their health care and in research; for them and their communities, the message of our program really resonates.
For people interested in learning more about the goals of the program, our recent article in the New England Journal of Medicine may offer some helpful background.
MC: How will All of Us benefit the field of precision medicine and help speed up health research breakthroughs?
JD: Most researchers don’t have the time or resources necessary to build longitudinal research cohorts of their own and follow them over years—much less ones that are large and diverse enough to draw conclusions for a broad range of populations. We’re creating an infrastructure that will be broadly accessible to researchers of all kinds to provide this support, so they can get to the science faster. We’ll provide data and tools centrally on our secure platform for approved researchers to explore and use in analyses. And our participants are consented for re-contact, which will enable ancillary studies down the road.
MC: A plethora of research has recently emphasized that there is a diversity problem in genetic research, particularly in genome wide association studies (GWAS). How does All of Us intend to gather data from a diverse sample population?
JD: The importance of diversity in research can’t be overstated. All of Us has a special focus on engaging diverse populations, particularly communities that have been historically underrepresented in research. That includes racial and ethnic minorities, as well as sexual and gender minorities, residents of rural areas, older adults, people with low income or limited education, and other groups. Currently, of our participants who’ve completed all the steps of our initial protocol, more than 80% come from underrepresented communities.
There are many ways we’re working to reach diverse participants. First and foremost, we have an extensive network of partner organizations, with longstanding relationships with diverse communities, that support grassroots outreach activities to raise awareness. We also have traveling exhibits, the All of Us Journey, that crisscross the country to reach underrepresented communities. And we involve a diverse set of participant ambassadors in our governance to inform our engagement strategies and other decisions about the program’s design and implementation.
MC: What information will All of Us participants be able to access from the analysis of their sample? How will the participants be supported if the results reveal sensitive information about their health?
JD: We will do genotyping and whole genome sequencing of participant biosamples, with other assays to be determined. Over time, we anticipate providing several kinds of information to participants, including information on ancestry and traits, drug-gene interactions (pharmacogenomics), and genetic findings connected with high risk of certain severe diseases for which there are established medical guidelines for treatment or prevention. It’s critically important to us to return results to participants in a responsible way.
We’re setting up a genetic counseling resource to support that, by helping participants understand their results and making referrals for follow-up care as appropriate.
MC: The project will be collecting huge amounts of genomic data. What measures will be taken to ensure the security and privacy of the data?
JD: We recognize that participants are sharing deeply personal health information with the program and are committed to keeping it safe and secure. We take many steps to protect participant information. For example, we remove obvious identifiers, encrypt the data, and store it on a secure platform.
We use the most up-to-date industry standards and practices to prevent security breaches and have enlisted teams of experts to conduct rigorous security testing and monitoring on an ongoing basis. Researchers seeking access to the data will be required to register with the program and verify their identity, take ethics training, and sign a contract for responsible data use, including promising that they will not to try to find out who a participant is. We will track the activity of researchers so we could analyze it if a violation of the contract was suspected.
The NIH recently announced that $4.6 million has been awarded to Color. Please can you tell us more about Color and how the company will support those who provide samples for All of Us?
JD: Color will establish the program’s genetic counseling resource. They’re providing technological services along with a large network of licensed genetic counselors to offer individual support through phone-based counseling sessions. Primarily, they’ll work with participants who have certain genetic variants that may warrant follow-up with local health care providers, but they’ll be available to all participants to help field questions about genetic results from the program.
All of Us is one of the first large population research programs to return health-related genomic results to participants as a benefit of participation. Our genetic counseling resource will be key to that, helping return information in a responsible way to diverse communities, and at a scale that hasn’t been done before.
If you are interested in participating in the All of Us research project, more information is available here.
Josh Denny was speaking to Molly Campbell, Science Writer, Technology Networks