to potential specialty clinics. We basically tailor
their follow-up to support risks that are identified
on the basis of this genomic sequence finding.”
As Williams also points out, it is important not
just to achieve results, but also measure those
outcomes to verify the initiative is doing what it
is meant to do. In the case of the My Code pro-
gram, when results are returned, Geisinger will
classify a patient into one of five groups.
F The first group includes individuals who already
have a diagnosis and have had clinical genetic
testing. They’ve had clinical signs and symptoms that suggested that they were at risk.
F The second group includes patients with
clinical evidence of a disease, but for whom
genetic testing has not been done.
F The third group includes individuals who, at
the time of the return of results, were not
aware that they had a disease, but when they
initiated in the recommended follow-up, early
stage disease was identified.
F The fourth and fifth groups include patients
who have a genetic variant, but have no evidence of the disease.
Over time through surveillance, the fourth
group may eventually identify evidence of the disease, while the fifth group will never develop the
condition. While it may not seem like it, Williams
says, “There is collateral benefit from returning
results to group five. Even though this individual
may not develop a condition, their relatives, for
whom we can provide low-cost cascade testing,
may in fact be able to prevent or develop an earlier diagnosis of disease through this intervention.”
All of Us
Passing the mic to Devaney, the conversa-
tion turned to NIH’s ongoing All of Us research
program. Begun two-and-half years ago during
the Obama administration and accelerated
with seed funding through the 21st Century
Cures Act enacted in 2016, the Precision Medi-
cine Initiative has overall funding of $1.4 billion
over 10 years. The core mission of this uniquely
focused program is to advance precision health
and precision medicine by inviting participants
from across the country, representing a diversity
of backgrounds, to share their health informa-
tion. The program will be seeking data across a
number of different variables over their lifespan,
resulting in the largest, richest biomedical data-
set ever collected to accelerate health research
and medical breakthroughs. This type of
resource collection can have profound implica-
tions on health conditions of all types, including
preventing chronic disease, developing better
pain medicines, developing better treatments
for diabetes (or preventing diabetes altogether),
driving local disparities interventions that work
sustainably, and more.
The program engages potential participants by
directly soliciting volunteers, as well as working
through collaborating healthcare providers. The
process of the All of Us Research Program begins
with enrollment through an online interactive
consent form that includes an authorization
for the individual to share his or her EHR data.
Participants then take part in three initial surveys,
sorting out basic demographic, lifestyle, and
behavioral information, as well as details about
the person’s healthcare access and utilization.
The capturing of physical measurements takes
place next, including data on the individual’s
blood pressure, BMI, heart rate, height, weight, as
well as hip and waist circumference. Biosamples
such as blood and urine specimens are also taken
and stored in the program’s biobank. Thanks to
a partnership with Fitbit, the program aims to
eventually have volunteers share their cardiore-
spiratory fitness through integrated apps.
Since its national launch in May 2018, the
program has already garnered more than 85,000
consenting participants, and nearly 50,000 par-
ticipants who have completed enrollment, 76%
of whom are under-represented in biomedical
research. With plans to open its digital research
portal to the public, begin the enrollment of chil-
dren volunteers, and start generating genomic
data by 2019, the All of Us program is poised
to make revolutionary impact on health care.
According to Devaney, “We intend to deliver on
an investment in the future of health care, one
that hopes to go beyond mere data points.”
“We want to engage as many participants who
want to join the program, who really understand
the value proposition for joining a research
study like this,” says Devaney. “We want it to be
useful for research, but we also want there to be
something that participants get back, whether
it’s a feeling of altruism or a sense of providing
something in their community.”
Stephanie Devaney, Ph.D., is deputy director of All of
Us Research Program, National Institutes of Health;
Marc S. Williams, M.D., is director of the Genomic
Medicine Institute, Geisinger.
1. Adapted from C.M.
J. Hwang. 2009.
Disruptive Solution for
Health Care. New York,