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 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.
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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:
(http://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)
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