NIH opens nationwide enrollment for huge precision medicine initiative

WASHINGTON — A massive precision medicine initiative that has been years in the making from the National Institutes of Health is being rolled out at last.

The All of Us initiative, which will be launched on May 6, aims to compile detailed health profiles of 1 million Americans, with a special focus on communities historically underrepresented in biomedical research.

The program, which began as a pilot last year, is the most ambitious attempt yet to compile health and behavioral data, as well as genetic sequencing, from a representative sample of the American population. It will collect electronic health records, survey data, and even information from its participants’ wearable fitness devices – with the goal of helping scientists better understand how to craft personalized treatments, seen by many as the future of biomedicine.

It’s “science that gets rid of one-size-fits-all medicine,” the program’s director, Eric Dishman, said in an interview with STAT.

More than 120 sites are currently online, and the NIH has already enrolled 26,000 beta-phase testers, according to a spokeswoman. An additional 17,000 participants have begun the enrollment process.

“Right now, we have line of sight to a total of 298 sites that will continue to enroll,” Dishman said, “so even after the launch we’ll continue to add capacity over the course of the next year.”

Dishman also said the agency is thrilled that its efforts to reach participants of lower incomes, from communities of color, or those otherwise underrepresented in biomedical research have paid off in the early going. As many as three-quarters of beta-phase enrollees come from such communities, the NIH said.  

Many public health experts say non-representative research samples, which typically skew white and male, have been used all too often in past research and some clinical trial settings. This can have concrete health consequences. In the case of women, for instance, many heart attacks have been missed, because heart disease has been described according to symptoms most common in men, without acknowledging that the disease can have different effects in women. The NIH has stressed that a non-representative sample of the U.S. population would be detrimental to the goal of understanding the behavioral, environmental, and genetic factors that determine health outcomes for all Americans.   

No participants have had their genomes sequenced to date, but the NIH issued a framework in March for funding genomic centers that eventually could be capable of fully sequencing up to 100,000 genomes each year, beginning with a 20,000-person pilot later in 2018.  

Still, Dishman acknowledged the logistical and financial capacity to fully sequence hundreds of thousands of DNA samples is a long way off, saying the NIH’s large need for genomic sequencing capacity could act as a downward cost driver for the technology.

Dishman also acknowledged the NIH’s ongoing efforts to ensure participants are comfortable allowing access to their electronic health records, behavioral information, and genetic data.

Following last week’s news that police in California had used genetic information from a consumer genealogy company to arrest a serial killer, Dishman said he sent a note reminding All of Us partners and investigators of the program’s data-security assurances. While partner institutions are prohibited from sharing data with law enforcement, researchers have nonetheless taken pains to explain why they request participants’ Social Security numbers and other personal data during the enrollment process.

In advance of the rollout, however, Dishman cautioned that not all participants would have the opportunity to have their genome sequenced, at least immediately.

NIH is “inviting people to do the physical measurements and biospecimen,” Dishman said, “but we’ve got to make sure that we’re hitting the scientific goals in terms of the demographic, geographic, and health status diversity.”