Nearly a quarter of a million people have joined the National Institutes of Health’s (NIH) ambitious All of Us precision medicine initiative — with a large response from racial and ethnic minorities who have been historically victimized or ignored by human research.
“Almost 80% of the participants so far are from communities that typically have been underrepresented in research, and 50% are racial and ethnic minorities,” said Francis Collins, MD, director of the NIH. “Too often, such diverse communities have been left out of research, and therefore left behind when cures are discovered.”
The NIH recently held a symposium marking the one-year anniversary of the project launch, which aims to collect genetic information and other health data on 1 million participants. NIH researchers will use whole genome sequencing and other cutting-edge tools to create, aggregate, and analyze individual health data for years into the future.
“More than 230,000 people across this country have started the process of joining,” Collins said. “More than 142,000 have completed the full protocol that includes answering surveys, electronic health records, giving measurements and giving biosamples, and linking to [trackable, wearable] data.”
The project began with a goal of “oversampling” minority and ethnic populations to restore research representation of these communities. By doing so, the NIH project is imbued with a quality of justice that resonates beyond the research possibilities, which at this point are difficult to overstate.
All of Us foretells an “inevitable cultural revolution,” said Deven McGraw, JD, chief regulatory counsel for Ciitizen, a medical data company in Silicon Valley. “Doing the right thing before you’re forced to do the right thing will always put you on the right side of history.”
NIH project leaders have engaged in outreach and opened frank conversation to acknowledge and overcome the mistrust generated by past research atrocities such as the Tuskegee Experiment, where African-American men were studied for untreated syphilis rather than administered penicillin.
“The first thing to getting people involved — which was a brilliant move by this program in particular — is to not deny that the past happened,” said Robert Winn, MD, director of the University of Illinois Cancer Center in Chicago.
Noting that those in the Tuskegee experiments were essentially used as a “control group,” Winn has talked to African-American men about overcoming unethical research of the past for the sake of future generations.
He conveyed this message to a meeting of 250 men, who expressed interest in learning their ancestry and providing data that could help African-American children now and in the future, Winn said.
“Men [said] in the town hall we had with them, ‘I may not be helped, but how will this help others?’” he said. “That is a recurring theme.”
Minorities will participate, but NIH researchers must “show up” every day with ethical intentions if the endeavor is to be successful. “How we gain trust is by showing up, being honest, and being consistent,” Winn said. “There are a million reasons why this program might not happen, but I’m going to plead to you that it has to. Hopefully, it will bring out the best in us.”
All of Us is getting people engaged in communities that have never participated in research, and these groups are excited about the access to medical science.
“When I go to the barber shops and the churches, people are wondering about the disparities that are happening now, and how to get people involved,” Winn explained. “All data matters, big and small, and in a rush to get big data, hopefully we don’t make communities invisible.”
For example, Winn said in extending a radius out three miles in any direction from the Cancer Center, he found communities with life expectancy ranging from 69 to 85 years.
The granular data that will be generated by All of Us could shed great detail on how socioeconomic conditions affect individual health.
Indeed, after only one year, All of Us has already “managed to become one of the largest, most diverse research resources in history,” Collins said.
Now that participation is growing, Collins said, the NIH is creating a “researcher bench and research tools” that can be used with the project data in the upcoming winter of 2019-2020.
“The precise timeline is dependent on outcomes of usability and security testing,” he said. “When that research work bench is made available, it will include data from upwards of 200,000 participants. It will include survey results, measurements, and electronic health record data — hundreds of thousands of data points.”
The goal is to add genomic information and data collected by wearable devices by 2020, he said.
“All of Us is operating under a very bold timetable,” Collins said. “Most research programs of this scale don’t release data until several years after they’ve completed enrollment of the last participant. Our attitude here is very different. We have a higher responsibility to consider.”
A critical aspect of that responsibility is securing the data and privacy of research subjects, and the NIH is subjecting the project to rigorous testing and hacker-like probing on an ongoing basis.
Diabetes and Dementia
An early benefit is expected to be detailed health data on diabetes and prediabetes, Collins said. About 30 million Americans — roughly 10% of the U.S. population — have Type 2 diabetes. Another 84 million people have prediabetes and are at risk of developing full-blown disease in the future, he said.
At full participation, All of Us research would be following some 90,000 diabetic patients and three times that amount with prediabetes, he said.
“Since this program aims to follow participants for at least a decade, if not longer, some people may develop diabetes while enrolled and others may be able to avoid the condition due to early diagnosis and effective treatment,” Collins said. “With access to the electronic health record, researchers may be able to explore early signs and symptoms and compare the effectiveness of various prevention strategies.”
The database also will include environmental data, which when combined with genomic data should give researchers insights into risk factors.
“I am willing to predict that we will be able to demonstrate that what we call Type 2 diabetes will be made up of several subtypes, each with different factors for vulnerability and resilience and with different responses to treatment,” Collins said.
The idea is to go beyond a data set and build a “community of participants,” giving other researchers the opportunity to recruit diabetic or prediabetic participants to join follow-up studies.
“This could give clinical researchers an opportunity to test health interventions to see if they may be effective in early detection and treatment of prediabetes, or in trying new interventions for those diagnosed with the disease, including such things as the artificial pancreas,” he said.
Another promising area for the research project is Alzheimer’s disease, as genetic sequencing and family health history can help identify those predisposed to the disease. Part of the data gathered to inform researchers about Alzheimer’s and other health conditions will be wearable devices that record exercise and sleep. Surveys and diet diaries will be used as well to assess variables that influence an individual’s risk for developing a condition.
“We might even use smartphone-based assessments of voice and speech to see if they can help us predict the onset of Alzheimer’s,” Collins said.
“And, as with diabetes, when new treatments for individuals emerge, All of Us will be in an excellent position to enroll quickly and efficiently.”
The project also will empower research on areas such as cancer, infections, mental health, hearing loss, kidney disease, pain, and addiction. “I invite all of you to imagine the ways in which this resource can speed up your own research studies,” he said.
Returning to a recurrent metaphor, Collins said All of Us will be like the landmark 1948 Framingham (MA) Heart Study writ large. Following thousands of people for decades, that study revealed some of the first definitive data about the risks of smoking, cholesterol, and high blood pressure for heart disease.
“If a study of just 5,000 people could contribute to a 67% decrease in deaths from heart disease in the past several decades — and that’s what’s happened — I think it’s safe to say that the potential for All of Us is almost boundless,” Collins said.