|NIH Launches Extensive Open-Access Dataset of
Genetic and Clinical Data
Landmark Framingham Heart Study Forms Foundation
The National Institutes of Health (NIH) — the nation's medical
research agency — is launching one of the most extensive
collections of genetic and clinical data ever made freely available
to researchers worldwide. Called SHARe (SNP Health Association
Resource), the Web-based dataset enables qualified researchers
to access a wealth of data from large population-based studies,
starting with the landmark Framingham Heart Study. Funded by the
NIH's National Heart, Lung, and Blood Institute (NHLBI), SHARe
will accelerate discoveries linking genes and health, thereby advancing
scientists' understanding of the causes and prevention of cardiovascular
disease and other disorders.
Framingham SHARe includes data on more than 9,300 participants
spanning three generations, including over 900 families, who had
their DNA tested for 550,000 genetic variations (single nucleotide
polymorphisms, or SNPs). In addition, the participants' clinical
data gathered during the study, such as test results or weight,
are included. SHARe will enable researchers to relate study participants'
genetic variations with their clinical and laboratory test results.
The Framingham Heart Study is funded by NHLBI in collaboration
with Boston University School of Medicine (BUSM) and Boston University
School of Public Health.
"The widespread availability of Framingham Heart Study data provides
unprecedented opportunities to investigate the connections between
genes and disease," said Health and Human Services (HHS) Secretary
Mike Leavitt. "SHARe represents a major milestone in moving toward
an era of personalized health care — a future in which the
ways we prevent, diagnose, and treat health problems are tailored
to an individual's genetic makeup."
Last month, Leavitt released the first HHS report on personalized
health care. The report, "Personalized Health Care: Opportunities,
Pathways, Resources" (www.hhs.gov/myhealthcare),
includes a review of departmental activities to advance genomic
knowledge and incorporate gene-based advances in clinical care
"Sharing information while also safeguarding the privacy and confidentiality
of our valued research participants is our best route toward an
increased understanding of the genetic role in health and disease," said
NIH Director Elias Zerhouni, M.D. "This is an exciting convergence
of advanced information technology with what we've learned from
the Human Genome Project and major clinical research endeavors,
which will boost our research capacity."
NHLBI Director Elizabeth G. Nabel, M.D., said, "As one of the
most comprehensive studies ever undertaken, the Framingham Heart
Study will play a vital role in laying the foundation for this
vast dataset to help researchers link genes and disease." She noted
that data from ongoing Framingham Heart Study research will continue
to be added. NHLBI will also incorporate data from other large
studies. "NHLBI is firmly committed to maximizing this important
Karen Antman, M.D., BUSM dean and provost of the Boston University
Medical Campus, noted that the university is pleased to be a part
of this important endeavor. "The ongoing collaboration among the
many Framingham Heart Study researchers has advanced our knowledge
about health and disease, helping to improve the well-being of
millions of individuals. In addition, the study participants have
made invaluable contributions to science, and we are indebted to
Philip A. Wolf, MD, principal investigator of this study and BUSM
professor of neurology and research professor of medicine (epidemiology
and preventive medicine), added, "It is the hope of all those who
have contributed to the Framingham Heart Study that this free flow
of information will accelerate the discovery of pathways to human
SHARe is accessed through dbGaP, or the database of Genotypes
and Phenotypes (http://view.ncbi.nlm.nih.gov/dbgap),
a Web-based resource for archiving and distributing data from genome-wide
association studies (GWAS). GWAS explore the associations between
genes (genotype information) and observable traits (phenotypes),
such as weight, cholesterol levels, or the presence or absence
of a disease. Launched in December 2006, dbGaP was developed and
is operated by the National Center for Biotechnology Information
(NCBI), a division of NIH's National Library of Medicine (NLM).
The dbGaP also provides, for the first time, a central repository
where study documentation, such as protocols and questionnaires,
is linked to summary data of measured variables. For example, in
Framingham SHARe, researchers can search for summary data on the
average blood pressure value at a visit and easily find the associated
protocol for measuring blood pressure.
"The SHARe data offer an unparalleled level of study detail, providing
a wealth of opportunities for researchers, students and others
to learn about study design from some of the brightest minds working
in the field," said NLM Director Donald A.B. Lindberg, M.D. SHARe
and other dbGaP studies are linked to related publications and
relevant NLM genomic resources to aid researchers in the discovery
process, according to Jim Ostell, PhD, chief of NCBI's Information
To protect the confidentiality of study participants, the SHARe
data in dbGaP includes only de-identified data — stripped
of names, Social Security numbers, etc. — from participants
who have consented to genetic research and to allowing their data
to be shared. Genotyping information, including data from a 500K
mapping array, was generated for Framingham SHARe by Affymetrix,
Inc., through a contract with NHLBI. Although summary data and
analyses are open access (available to any researcher), individual-level
data can be used only by authorized investigators who meet requirements
for access outlined in the NIH GWAS policy (http://grants.nih.gov/grants/gwas/index.htm).
Researchers are prohibited from redistributing data or trying to
determine the identity of participants.
"Analyzing individual-level data with computer programs, researchers
will be able to search for new connections between genetic variations
and phenotypes such as high cholesterol," explained Christopher
O’Donnell, M.D., associate director of the Framingham Heart Study
and scientific director of Framingham SHARe. "The thousands of
Framingham participants — some of whom have been monitored
for almost 60 years — have already contributed greatly to
our understanding of the role of risk factors for heart disease
and other conditions, and now they will contribute a wealth of
new and detailed information about the inherited basis of these
The Framingham Heart Study is a prospective, community-based,
family study that began in 1948 among residents of Framingham,
Mass. The original group of participants included 5,209 adults
between the ages of 30 and 62 at enrollment who visited every two
years for medical histories, physical exams, and laboratory tests.
In 1971, 5,124 of the original group's adult children and their
spouses were added. A third generation group — 4,095 grandchildren
of the original group — was enrolled in 2002.
Researchers interested in applying for access to individual-level
Framingham SHARe data should follow the directions at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007.
Contact the NHLBI Communications Office at 301 496-4236 to interview
NHLBI staff, including Drs. Nabel or O'Donnell; Cashell E. Jaquish,
Ph.D., SHARe project officer; or Daniel Levy, M.D., Framingham
Heart Study director. To interview Dr. Ostell at NLM, contact Kathy
Cravedi at 301 496-6308. To interview Boston University Dean Antman,
contact Gina DiGravio at 617 638-8491.
Part of the National Institutes of Health, the National Heart,
Lung, and Blood Institute (NHLBI) plans, conducts, and supports
research related to the causes, prevention, diagnosis, and treatment
of heart, blood vessel, lung, and blood diseases, and sleep disorders.
The Institute also administers national health education campaigns
on women and heart disease, healthy weight for children, and other
topics. NHLBI press releases and other materials are available
online at www.nhlbi.nih.gov.
The National Center for Biotechnology Information (NCBI) was established
in 1988 as a national resource for molecular biology information.
NCBI creates public databases, conducts research in computational
biology, develops software tools for analyzing molecular and genomic
data, and disseminates biomedical information, all for the better
understanding of processes affecting human health and disease.
NCBI is a division of the National Library of Medicine, the world's
largest library of the health sciences. For more information, visit www.nlm.nih.gov.
The National Institutes of Health (NIH) — The Nation's
Medical Research Agency — includes 27 Institutes and
Centers and is a component of the U.S. Department of Health and
Human Services. It is the primary federal agency for conducting
and supporting basic, clinical and translational medical research,
and it investigates the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and
its programs, visit www.nih.gov.