President Obama discussing his Precision Medicine Initiative

Official White House Photo by Pete Souza

Blueprint in hand, NIH embarks on study of a million people

Hoping to avoid the potholes that recently wrecked a similarly ambitious study of children, a panel of human geneticists, medical researchers, and other experts today proposed a blueprint for the National Institutes of Health's (NIH's) plan to recruit 1 million Americans for a long-term study of genes and health. The study, which hopes to recruit its first volunteers next year and could last a decade or longer, may become the largest national study of this kind in the world.

For NIH Director Francis Collins, the project, known as the Precision Medicine Initiative (PMI) Cohort Program, brings to fruition an idea he first proposed 11 years ago. “I am so excited to see this dream come to life,” Collins said in a statement released after he accepted the blueprint. “[It] will be a broad, powerful resource for researchers working on a variety of important health questions.”

President Obama called for a large national research study in January as part of a broader effort to use genetics and health information to tailor medical care to individuals. Several countries, including the United Kingdom and Estonia, have assembled similar studies of large groups of people, or cohorts, that collect DNA and health information on volunteers in repositories, sometimes called "biobanks." But designing such a massive research effort in the United States, which lacks a centralized health care system, can be difficult and controversial; NIH recently scuttled and then revived a plan to study 100,000 children, for example.

To flesh out the new PMI study, Collins turned to a working group of his Advisory Committee to the Director. In a report today, that panel endorsed Obama’s broad proposal, finding that a 1-million-person study will be useful for finding genes and biomarkers that influence disease risk and response to drugs. And the cohort could test mobile devices to study how exposures and physical activity affect health and provide volunteers to participate in clinical trials, the report says.

As expected, advisers urged NIH to limit costs by recruiting the bulk of participants over the next 4 years through health care providers with electronic health records. Those providers might include, for example, Kaiser Permanente, which has already recruited 245,000 of its members for a health study; and the Veterans Health Administration’s Million Veteran Program. But the study will also set aside slots for anyone living in the United States who wants to participate and who is willing to share a blood sample, undergo a clinical exam, and share his or her health data. The two recruitment methods, which will seek volunteers of all ages including children, could bring the total enrollment well beyond a million, the panel said.

The PMI cohort would break ground by allowing participants to see much of their genetic and other health data, at least tests that have been done by so-called CLIA (Clinical Laboratory Improvement Amendments)-certified labs, which are those that have met general regulatory standards for reliability.

The report describes baseline data and biological samples that the study should collect—a blood sample, for example, and participants’ sleep and activity data with wearable devices, such as Fitbits. Researchers may later add more biological samples and draw on geospatial information about environmental exposures, such as air quality data.

Although understanding the interplay between health and a person’s DNA is one of the study’s main objectives, the advisers found that it was still too expensive to contemplate sequencing the full genomes of everyone. Instead, the project can start out by testing participants’ DNA for so-called single nucleodtide polymorphism (SNPs), common mutations scattered along the genome that can point to disease risk genes. That testing can now be done for less than $50 per sample, whereas sequencing a whole genome still costs at least $1000.

One challenge is to recruit a cohort that represents the ethnic and socioeconocmic diversity within the United States. NIH Deputy Director for Science, Outreach, and Policy Kathy Hudson, who co-chaired the working group, said the project hopes to recruit some participants through federally funded health clinics that serve low-income minority populations. Asked whether it will need to limit volunteers from certain groups, Hudson said NIH doesn’t “have a specific answer yet” but is “mindful of” the need to represent the country’s diversity.

Another question that has loomed over the project is how it will avoid the mistakes made by the National Children’s Study, a project that spent more than a decade on planning and $1.3 billion before NIH canceled it last year. Hudson said the way the PMI study  will be led—with a prominent scientist in charge and various committees—and a plan to be “flexible” about the data being collected will help the new project avoid the same fate.

NIH is launching a national search for a director and for now, Collins has named as interim director Josephine Briggs, director of the National Center for Complementary and Integrative Health. Obama requested $130 million for the cohort study for fiscal year 2016 that starts 1 October and Congress seems likely to approve. Collins said NIH doesn’t yet know what the long term costs of the project will be, but with the newly unveiled framework in hand it will begin to estimate them.