CHICAGO (Reuters) - The National Institutes of Health on Thursday approved a blueprint for U.S. President Barack Obama’s Precision Medicine Initiative and named an NIH insider as interim director of the project, which aims to enroll 1 million volunteers in the next three to four years.
The sweeping study, announced in January by Obama, will gather data on people in the United States of all ages, racial and socioeconomic groups.
NIH Director Francis Collins said he would “act immediately” on recommendations delivered to him on Thursday by a working group created to develop a framework for the study.
“We now have a design plan and it’s time to move forward,” Collins said in a conference call with reporters.
He said he will begin a nationwide search for a distinguished scientist to direct the study, and has tapped Dr. Josephine Briggs, currently director of the National Center for Complementary and Integrative Health, as acting director.
Collins said he hopes to begin recruiting study volunteers as early as next year.
Among the goals of the study are to develop better estimates on individuals’ risk for developing disease. These would be drawn from a range of metrics, looking not only at genetic factors but also the role of environmental exposures and their impact on genetic predispositions.
The study will also attempt to understand the wide range of responses seen in individuals taking commonly used drugs.
And it will look for biological signals known as biomarkers that suggest increased or decreased risk for developing common diseases.
Participants would undergo a standard baseline exam for vital signs, a medication assessment and provide a medical history and a blood sample. They would also be asked to volunteer key data including their electronic health records and health survey information.
The study will also draw from a wealth of information gathered from digital devices, such as smartphones and fitness trackers such as Fitbit and Jawbone, which would provide data on lifestyle habits and environmental exposures.
Although the study intends eventually to include whole genome sequencing, initial genetic tests will likely only include genotyping - tests that collect information on a limited set of common disease genes.
Collins estimates that based on current prices, it would cost up to $2 billion to do whole genome sequencing on 1 million individuals now, compared with $30 to $40 each for genotyping.
In that regard, the initial U.S. study is less ambitious than studies such as Genomics England’s 100,000 Genomes Project.
President Obama has requested $130 million for the study portion of the initiative, but that money is far from guaranteed as Republican lawmakers threaten another government shutdown over funding for Planned Parenthood. Collins remains optimistic, citing support from both Republicans and Democrats.
Volunteers in the study will come from two paths: individuals who wish to take part and people already enrolled in large studies through their health providers.
Many of these studies, which include Geisinger Health System, Kaiser Permanente, Mayo Clinic and the Marshfield Clinic in Wisconsin, already have extensive patient medical records, which could be of use to researchers in the study.
One advantage to these groups is that many already have genetic information on their study volunteers, and Collins said he is interested in having these groups participate.
The working group’s report outlined several parameters for groups to participate, and groups with these characteristics can apply in the next few months.
The working group's report can be found here: (1.usa.gov/1YgI7Lj)
Reporting by Julie Steenhuysen, additional reporting by Natalie Grover and Vidya L Nathan in Bengaluru; Editing by Ted Kerr, Savio D'Souza and Alan Crosby