Nearly 3 years after then-President Barack Obama laid out a vision for perhaps the most ambitious and costly national health study ever, the U.S. National Institutes of Health (NIH) is still grappling with the complexities of the effort, which aims to probe
links between genes, lifestyle, and health.
The study plan, or protocol, is ready, the
biobank is taking samples, and the enrollment site is up, but study leaders are still in
early “beta testing” of the 1-million-person
precision medicine study.
The All of Us study, as it is now dubbed,
had once expected that by early 2017 it
would enroll at least 10,000 participants for
a pilot testing phase; it is up to just 2000.
Its national kickoff, envisioned
for 2016 and then mid-2017,
has been delayed as staff work
out the logistics of the study,
which is funded at $230 million
this year and projected to cost
$4.3 billion over 10 years. But
study leaders say that for an
endeavor this complex, delays
are inevitable. “The pressure on
our end is really about getting it
right and doing this when we’re
ready,” says Joni Rutter, director
of scientific programs for the
project in Bethesda, Maryland.
The brainchild of NIH Director Francis Collins, the effort is
modeled after studies of DNA
and health already underway in
such countries as Iceland and
the United Kingdom. But All of
Us is making extraordinary efforts to reach
minorities and others often left out of medi-cal research. With its huge scale and diversity, the study should yield “more rational
disease prevention strategies, more accurate
diagnoses, better treatment selection, and the
development of novel therapies,” explains a
protocol released last month.
In September 2015, 8 months after Obama
proposed it, an expert panel laid out a blue-
print (Science, 25 September 2015, p. 1433):
The study will recruit most volunteers
through health care provider organizations
(HPOs), or networks of clinics and physi-
cians, and the rest directly from the general
population. Volunteers age 18 or older will
give blood and urine samples and undergo
a few basic tests such as blood pressure,
height, and weight during a 1-hour clinic
visit, after which they will receive $25, the
protocol says. They will complete three on-
line surveys about their health and lifestyle.
The study will also ask volunteers to allow
access to their electronic health records so
researchers can track their health over time.
Later, All of Us will seek consent to access
study participants’ DNA and will give some
participants mobile devices that collect
such health data as pulse and activity. Last
year, NIH chose the Mayo Clinic to run the
biobank and began selecting about 30 main
HPO recruitment sites. Two NIH working
groups are now planning how the genomics
data will be analyzed—and how to address
the tricky issue of how much participants
should be told about any genetic risks they
carry. They are also discussing how to even-
tually include children.
The study aims to prioritize groups that
are understudied in biomedical research be-
cause of their race, gender, socioeconomic
status, or geographic location—including
migrant workers and the homeless. All of
Us Director Eric Dishman has said NIH’s
goal is that 75% of the 1 million participants
will be “underrepresented in biomedical
research.” Even so, because the study will
rely on volunteers and digital technologies,
it will be hard to avoid ending up with a
group that skews younger, healthier, and
more educated and tech savvy than the gen-
eral population, predicts pediatrician and
epidemiologist Nigel Paneth of Michigan
State University in East Lansing.
Some HPOs began pilot recruitment in
early June, but others have run into delays in getting local ethics approval, for
instance, or in updating old desktop computers so they can run study software.
Another obstacle has been widely varying state laws governing how researchers
must get consent to use individuals’ health
data. And NIH staff have realized that the
community clinics that are key to recruiting poorer participants often have no lab
infrastructure or experience with research
and will need help.
Enrollment will speed up as more of 100-
some sites come online. However, the study’s
national launch may not happen until early
next year, Dishman said. The
plan is to reach 1 million volunteers in 2022.
Next spring, NIH institutes
will begin defining which sci-
entific studies will be done
with All of Us data, Rutter says.
Some supporters worry that if
All of Us doesn’t produce initial results quickly, it could lose
critical support among scientists and Congress. But advisory
panel member Rory Collins, the
principal investigator for the
500,000-person UK Biobank,
cautions that the study’s full
payoff will take time. The U.K.
study began in 2006, “but it will
be the second 10 years that will
produce the most important
findings” as participants age and
develop diseases, he says.
Others question whether the massive investment in DNA-based medicine will pay
off. It may merely “confirm that for the
vast majority of things, environment and
behavior trump gene variants by a wide
margin,” says physiologist Michael Joyner
of the Mayo Clinic in Rochester, Minnesota. What’s more, personalized medical
care may not mean much for the millions of
Americans who lack health insurance, says
bioethicist Mark Rothstein of the University
of Louisville in Kentucky. “We’d get a lot
more bang for the buck by having everyone
have access to the low-tech medicine that’s
available right now.” j
NIH’s massive health study is off to a slow start
All of Us hopes to begin recruiting 1 million volunteers by early 2018
By Jocelyn Kaiser
The National Institutes of Health’s 1-million-person health study will include groups
often left out of biomedical research, such as the homeless.