NIH Director Dr. Francis Collins Discusses the All of Us Initiative and
NIH Funding with PMWC
Dr. Francis S. Collins, Director of the NIH has advised President Obama on prominent health initiatives, such as the BRAIN and Cancer Moonshot initiatives and the Precision Medicine Initiative. He also played a vital role in the multibillion-dollar effort to sequence the human genome, one of the most significant scientific undertakings of our time. We were fortunate to sit down with Dr. Collins to discuss with him the All of Us initiative and other important projects he is involved in.
blank for closed rows in css ||display: none;||
Question 1: The PMI Cohort Program had an aggressive goal of enrolling 79,000 cohort participants by the end of 2016. What is the status on this enrollment? Has it been achieved? If yes, how was it achieved? If that is not the case, what are some of the challenges you encountered and how will you overcome them? What are some of the key learnings to be shared with others?
When we started the program, we had to consider the tradeoffs of launching quickly with limited capabilities (e.g., simply surveys, limited infrastructure) versus waiting to launch when we had a greater capacity to collect and process more information (e.g., electronic health records, biospecimens). We initially thought that enrolling the first 100,000 participants quickly when there was a lot of excitement about the program made the most sense. However, after talking with our partners, advisors, and potential participants, we changed our minds.
We funded a pilot phase of 5,000 people to give us feedback, and also started to conduct workshops and focus groups around the country with diverse populations traditionally underrepresented in biomedical research (e.g., rural populations, racial and ethnic minorities).
From these discussions it quickly became clear that “first impressions are everything” and it would be better to build a deeper, rich platform and protocol than start quickly with simple surveys.
We decided to focus on building out the protocol, diversity engagement plans, and direct volunteer and health care provider organization networks to be able to start biospecimen collection, electronic data sharing, and other aspects of the program.
Launching such a large research program is not without its challenges. Some of our major challenges include:
- Bringing together multi-disciplinary teams across multiple sites. This includes over 60 partner organizations, including government agencies, nonprofit organizations, and academic institutions.
- Achieving diversity and building trusted long-term relationships with people, especially from within communities that have been left behind in traditional biomedical research.
- Including participants as partners in governance and citizen science as the program continues to grow. For example, we need real participants in the program before we make key decisions on how and when to return genetic information.
- Creating robust datasets that include electronic health record data from direct volunteers – who may have many providers – and behavioral data from activity monitors and other wearable devices.
All of Us currently has 64 partners working to build a more in-depth version of the platform, plan, and protocol. Many of these are health care provider organizations across the country that are training and getting ready to enroll participants. Additionally, we are currently gearing up to start enrolling direct volunteer participants.
The first version of the protocol is under final review with the All of Us central Institutional Review Board (IRB). We are in the process of doing security and user testing on our platform. Once we get final IRB approvals for our website and materials, we will launch a controlled Beta phase in May. We will enroll the first 25,000 participants and, based on their experience and feedback, we will make updates and improvements to the program. Once all systems are up and running smoothly, we will launch nationally. Our national launch is planned for fall 2017.
Question 2: What are some of the major milestones planned for the Precision Medicine Initiative for 2017?
The All of Us Research Program is one part of PMI. All of Us is an ambitious effort to gather data from 1 million or more people living in the United States to accelerate research and improve health. The program will be open to people both healthy and sick, from all communities. Participants may enroll through participating health care provider organizations or through our website or mobile app.
Assuming we get IRB approval and our security tests are successful, our first major milestone is to launch the Beta phase of the All of Us Research Program in the next month. As part of the Beta test we will be learning and sharing the results of different approaches to recruiting populations that have traditionally been underrepresented in biomedical research.
As we begin testing the entire enrollment process with early participants, we will continue planning – with a lot of input from all sectors of the scientific community – for other aspects of the program, including how we approach genomics and the best approaches for returning information to participants. We are also in the process of developing plans for recruiting special populations, starting with children and Native Americans / Alaskan Natives.
Later this year, after we have fully tested the platform and the user experience at each of our enrollment sites and through the online portal, we will launch nationally.
Question 3: The recently released proposed budget calls for double-digit cuts to the National Institutes of Health, specifically a $5.8 billion cut for the NIH in 2018 alone. How will the new budget impact research and funding of NIH specific projects/initiatives? What should we expect? Specifically, how will these cuts impact the efforts to advance personalized medicine and research programs like the (1) Cancer Moonshot, (2) Precision Medicine, and (3) the BRAIN initiatives?
If there are budget cuts, then we will have to make tradeoffs with some of our program activities. It will take longer to enroll 1 million participants, we will have to do the genotyping and other genetic analyses later, and it will take more time to collect new data types like imaging and wearable devices. However, we will continue to remain committed to our core values of having a diverse set of participants; allowing participants to enroll directly through our website or mobile app; and providing open data to a broad range of researchers from citizen scientists to investigators in academia and industry. Similar adjustments would also have to be made for other Cures-supported initiatives.
We are confident in the importance of the All of Us program to stay internationally competitive, and we are hopeful it will get done with great bipartisan support.
Question 4: What key elements of the Precision Medicine Initiative do you see as most in need of generating broader awareness and acceptance across the various stakeholders such as providers, patients, payors, or public health policy administrators?
- Deliver value to participants. Patients and others who enroll in research studies have a right to access their data, and to the responsible return of results – we need to adjust our policies, practices, and technologies in health care to deliver that to patients and research participants.
- Embrace security and privacy challenges. We must stay vigilant about securing the confidentiality and privacy of people’s data. All of Us is following the “PMI Data Security Policy Principles and Framework” and “PMI Privacy and Trust Principles” developed by many stakeholders when PMI launched.
- Liberate the data. While we continue to implement strong safeguards to secure the confidentiality of health data, we are moving toward a world where making data more open (instead of hoarding) to a broader set of researchers, including citizen scientists, is becoming the new normal. This means understanding what researchers, from all backgrounds, need to answer some of our most vexing health questions. It also means exploring new models of data access, taking advantage of technology, and shifting the incentives for researchers to ones that encourage responsible data sharing.
- Bring in diversity. The whole research ecosystem needs to take seriously the idea that we need more diversity in our research studies. Too many people have been left behind and too much science has been left undone. To truly deliver on the promise of precision medicine for all of us, we must reflect the people that live in the United States in large-scale research efforts like this one.
Question 5: Is there anything else you would like to share with the audience?
We are committed to transparency and will keep participants, researchers, and the public updated on the news, events, and progress of the program. We will continue to provide updates at our website (AllofUs.nih.gov). And of course look for news and announcements from our Director’s Corner.
The scientific opportunities with a research platform of this scale, diversity, and data are enormous. All of Us can help us find the right drug at the right dose for the right patient, better assess the risk and progression of diseases based on our unique genetic makeup, and understand what prevention methods work and for whom. It can help us find new ways to treat diseases by identifying genetic mutations that protect against common diseases, and discovering the factors that protect people who should be ill but appear disease free. The program will also provide a platform for identifying new ways to evaluate wearable devices and other technologies to prevent or manage chronic disease.
Advancing Precision Medicine by Leading Sequencing of the Human Genome and Other Major Government Initiatives
M.D., Ph.D., Director of the National Institutes of Health (NIH)
Francis S. Collins is a highly revered physician-geneticist who, as director of the National Human Genome Research Institute, oversaw the successful 15-year multibillion-dollar effort to sequence the human genome. Often considered the most significant scientific undertaking of our time, researchers around the globe are now able to use genomic tools to expand understanding of human biology, combat disease and improve health through Precision Medicine.In 2009, Dr. Collins was named Director of the National Institutes of Health and went on to lead the Precision Medicine Initiative, now All of Us, to study the DNA and medical histories of one million American volunteers to better predict disease risk, understand how diseases occur, and find improved diagnosis and treatment strategies. Dr. Collins advised President Obama on the creation of many other prominent health initiatives, including the Brain Research through Advancing Innovative Neuro technologies (BRAIN) Initiative and the National Cancer Moonshot Initiative. Dr. Collins received his education at the University of Virginia, Yale University, and the University of North Carolina at Chapel Hill, and served on the faculty of the University of Michigan. Collins developed a more effective method to isolate disease genes called positional cloning and was one of the first to identify the specific genes responsible for cystic fibrosis, neurofibromatosis, and Huntington’s disease. Among the numerous awards, Dr. Collins has received are the Presidential Medal of Freedom, the National Medal of Science and the Inamori Ethics Prize.