The National Institutes of Health’s “All of Us” Research Program, an unprecedented effort to advance precision medicine, has hit a significant milestone as the enrollment beta phase is ending and the program’s open national enrollment will launch May 6.
The All of Us Research Program, established by the White House in 2015, aims to advance precision medicine by studying the health data of 1 million diverse Americans over the next five years. The official launch date, which is this Sunday, will be marked by community events in seven cities across the country as well as an online event, according to NIH officials. Volunteers will join more than 25,000 participants already enrolled in All of Us as part of a year-long beta test to prepare for the program’s national launch. The overall aim is to enroll 1 million or more volunteers and oversample communities that have been underrepresented in research to make the program the largest, most diverse resource of its kind.
“The idea of bringing together 1 million people from all walks a life to partner in the research process might have seemed like a pipe dream 15 years ago, but today it’s a reality,” Francis Collins, NIH director, said, during a media briefing announcing the official national enrollment launch date. “It’s ambitious” Collins said, adding, “The ‘All of Us’ research program is among the most ambitious research efforts that our nation has ever undertaken.”
Collins also said the All of Us research program, and the 1-million-participant cohort that it is building, has far-reaching implications, such as the potential to revolutionize the clinical trial process. “I’m predicting this program will transform our understanding of how to keep people healthy and how to manage chronic illness in this frame of precision medicine.”
Program participants will share information over many years in a variety of ways, through surveys, electronic health records (EHRs), physical measurements, blood and urine samples and wearable technologies. Researchers of all types, from citizen scientists to investigators in academia and industry, may request free access to the data, which will be de-identified to protect participant privacy. Their analyses may yield new insights about how individual differences affect health and disease, potentially leading to more tailored treatments and prevention strategies in the future, according to All of Us officials.
In outlining the importance of the All of Us research, Collins noted that, historically, medicine has been built on what works for the average person. “But, we are all different, and one-size-fits-all is far from an optimal strategy. Healthcare providers lack adequate tools and data to provide precise, tailored care. Researchers spend time recruiting volunteers and creating new data sets over and over for each study. Now, imagine the research that we could enable if we could give access to data from one of the largest, most diverse cohorts; data that is cleaned and curated and with robust computing tools already in place. This will allow researchers to get to research faster, which leads to better knowledge for providers and better outcomes for patients.”
Collins also noted that the human genome was first sequenced 15 years ago, yet there were barriers to advancing precision medicine at the time, including the lack of technology tools. “We didn’t have the right opportunities with technology and the ability to manage large amounts of data. But now we do. The cost of genetic sequencing continues to plummet. EHRs are making it possible to collect medical information about individuals, without depending on paper records, which would be impractical for 1 million people,” Collins said.
According to Eric Dishman, director of the All of Us Research Program, the program has enrolled 45,000 participants during the beta phase, with 27,000 individuals completing the entire enrollment protocol. Since launching the beta phase in July 2016, the program has ramped up to include 100 healthcare community partners and 129 clinic locations throughout the country. “There are 800,000 tubes of samples already frozen in the Mayo Clinic, in the biobank, shipped and stored within 24 hours from around the country. We have EHRs and survey data coming into the secure cloud environment,” Dishman said, noting that safeguarding participants’ privacy and data are the program leaders’ top responsibility. “If we lose that trust, we then we lose viability of the program,” he said.
The goal is to reach 1 million participants in five to six years, he said. “This time next year, we could have 150,000 to 200,000 people through all parts of the protocol. Just the EHR data alone, people tell us, is valuable. With the EHR data of 60,000 to 70,000 people, scientific discoveries can start to be made,” he noted.
The research portal, which will provide researchers open access to find the clean data sets, will open the first part of 2019, as the program completes alpha and beta testing late this year. All of Us Research Program leaders also are developing an enrollment plan for children, who are often underrepresented in biomedical research, he said. Right now, the program is only open to people 18 years of age and older.
Future efforts include enabling participants to share data from wearable devices, such as fitness trackers, as well as a pilot project to capture participants’ EHR data, Dishman said. “It’s a long journey to help individuals and researchers get a rich, longitudinal health record,” he said.
He also noted that while the All of Us research program is not about genetics, it is the intersection of behavior, environment and genetics. To this end, the program has released a notice of intent to fund two or three genomic centers. “We will begin genotyping and genome sequencing this year, as well as a large pilot program with participants to understand what are the right ways to return genetic information to people,” he said.
Dishman, who previously served as vice president of the Health and Life Sciences Group at Intel Corporation, noted that he has personally benefitted from advancements in precision medicine, having survived 23 years of cancer treatments for a rare form of kidney cancer. After 57 rounds of failed cancer treatments, Dishman’s treatment team was able to tailor a treatment to his specific tumor as a result of cancer whole genome sequencing, as well as studying his longitudinal health record, from collecting 23 years of his paper and electronic medical records, he said.
“Think about that. I barely got access to precision medicine, as an educated, wealthy businessman, a Silicon Valley executive with access. What about everybody else? I decided to make that my focus, how do we make this available to all of us? The nation needs to be bold; we need to bring precision medicine to more people and more conditions, especially those who have been left behind,” he said, noting that the All of Us Research Program’s goal is to get 70 to 75 percent of participants among the underrepresented in biomedical research.
According to NIH officials, the program seeks to transform the relationship between researchers and participants, bringing them together as partners to inform the program’s directions, goals and responsible return of research information. These efforts include building trust among populations historically underrepresented in research. Participants will be able to access their own health information, summary data about the entire participant community and information about studies and findings that come from All of Us.
One of the unique aspects of the nationwide program is the focus on building a diverse participant community to address health conditions that disproportionately affect underrepresented communities. Dara Richardson-Heron, M.D., chief engagement officer of the All of Us Research Program, said, “We are committed to building a diverse cohort of participants. We know that hasn’t always happened. Research transgressions have made some people skeptical and hesitant to take part in research. There were times when whole communities were not invited to participate in research, and this leaves unanswered questions about health disparities."
She continued, "We can and will do better. We can chip away at health disparities, so everyone can benefit from better treatment efforts and breakthroughs."