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NIH Awards $55M for Precision Medicine Initiative Cohort Buildout; FDA Releases NGS Draft Guidances

NIH Director Francis Collins; FDA Commissioner Robert Califf

NEW YORK – The NIH yesterday announced it would provide $55 million in fiscal year 2016 to build and support enrollment of 1 million volunteers into the Precision Medicine Initiative.

Additionally, recognizing that genomic information is critical to delivering precision care, the US Food and Drug Administration released two draft guidances outlining its conceptual framework for establishing the analytical and clinical validity of next-generation sequencing tests. 

The latest NIH awards are intended to "support the critical infrastructure we need to build a study of this scale and scope and break new ground in how we engage people in research," NIH Director Francis Collins said during a call

A volunteer base that large will take between three and four years to bring together, according to the NIH, which is hoping to not only enroll participants, but keep them engaged and contributing data to the PMI for a long time. These volunteers will be asked to donate biospecimens, healthcare data, genomic profiles, environmental exposures, and a variety of other information that researchers can use to improve understanding of diseases and advance personalized treatments.

The NIH intends to open enrollment in November, and has hired Eric Dishman, former VP of Intel's health and life sciences group, to lead the effort. According to the NIH, these awards will enable it to maintain that timeline, and meet the 1 million enrollment goal by 2020.  

Individuals in the US can directly sign up to participate in the PMI or enroll through so-called healthcare provider organizations (HPOs). The latest awards from NIH will go to organizations involved in advancing a Data and Research Support Center, a Participant Technologies Center, and an HPO network. Future awards will depend on progress reviews and availability of funds.

The NIH awarded $14 million to Vanderbilt University Medical Center, which in collaboration with the Broad Institute and Verily Life Sciences is in charge of the Data and Research Support Center that will organize the information coming in from volunteers and HPOs, and build a research community that will propose the studies applying that data. 

NIH also provided $20 million to Scripps Research Institute to lead efforts within the Participant Technologies Center, which will facilitate direct enrollment of 350,000 volunteers. Scripps is working with Vibrent Health, which will develop and maintain a technology platform that volunteers can use to enroll, consent, and donate their data through mobile phones, the web, and wearable sensors. Scripps will also collaborate with the online patient network PatientsLikeMe, the non-profit research organization Sage Bionetworks, and the pharmacy chain Walgreens to expand the ways in which people can enroll in the PMI, Collins said.

The NIH this week also announced its initial HPO picks — Columbia University Health Sciences, Northwestern University, University of Arizona, and University of Pittsburgh — awarding each around $4 million for the first year and a milestone period. These regional medical centers may enroll as many as 10,000 participants into PMI in the first year and 35,000 volunteers in the subsequent four years. "We expect to expand this network and will be issuing another funding opportunity in the coming months," Collins said.

The NIH and the Health Resources & Services Administration also awarded $100,000 to six community-based HPOs to ensure that underserved populations will also be able to partake in PMI. These organizations — Cherokee Health System in Knoxville, Tennessee; Community Health Center in Middletown, Connecticut; Eau Claire Cooperative Health Center in Columbia, South Carolina; HRHCare in Peekskill, New York; Jackson-Hinds Comprehensive Health Center in Jackson, Mississippi; and San Ysidro Health Center in San Ysidro, California — will pilot efforts to engage patients in the PMI, advance research protocols, and collect data and specimens.

Simultaneously, the US Department of Veterans Affairs, will apply its experience enrolling 500,000 former servicemen and women into the Million Veterans Project — a study exploring the influence of genes on health — to encourage them to participate in the PMI. Through an interagency agreement the VA received $4 million as an HPO within the PMI.

"Once these facilities are fully up and running … we will be making a lot of noise," Collins said. Before that, "we want to make sure we have all the pieces moving smoothly."

In concert with the NIH's award announcements, the FDA released two draft guidances outlining its vision for regulating NGS tests, which can gauge millions of genetic variants at once and the results may be used to diagnose disease, assess predisposition for a condition, and predict whether a person is likely to respond to therapy. FDA Commissioner Robert Califf said, "The development and growth of next-generation sequencing is pivotal to the future promise of the Precision Medicine Initiative," but he noted that precision care "can only be as good as the tests that guide diagnoses and treatment."

Recognizing that the complexity and power of NGS tests requires new regulatory thinking, the FDA has held several public workshops to discuss strategies and recently hinted that it planned to release draft guidelines soon. One of the draft guidances FDA released discusses classification and premarket review of NGS tests for germline diseases and provides recommendations for designing, developing, and validating such tests.

Another draft guidance lays out the factors the FDA will consider in determining whether a public variant database can provide evidence to support the clinical validity of NGS tests, and outlines the process by which database administrators can apply to have the FDA recognize their repositories for this purpose.

"In relying on assertions in genetic variant databases that follow the recommendations in this guidance, FDA hopes to encourage the deposition of variant information in such databases, reduce regulatory burden on test developers, and spur advancements in the interpretation and implementation of precision medicine," the agency said in the draft document. The FDA has already used Johns Hopkins University's CFTR2 database in clearing a 139-variant cystic fibrosis test that runs on Illumina's MiSeqDx. 

The agency views such variant databases as a more efficient alternative to test developers having to perform the same studies and collect similar evidence on individual variants detected by NGS panels. Public variant databases "could facilitate test developer use of much larger and more complete data than they could generate on their own," Califf noted. "This could help connect test developers with the current body of scientific knowledge that currently is not accessible to all developers and could possibly even help support an exemption from premarket review for clinical validity in the future." 

The two guidances, he said, represent a shift towards a "much more innovative" regulatory process, but they provide only a conceptual framework. Working out the regulatory details will take a lot more work, Califf said. Members of the public can comment on the draft guidelines for 90 days.