[Ip-health] NIH Makes Largest Collection of Genetic, Clinical Data Available in Free Web Database

[Mike Palmedo]

http://pubs.bna.com/ip/bna/mrl.nsf/eh/a0b5f8r0b6

NIH Makes Largest Collection of Genetic, Clinical Data Available in Free
Web Database

BNA Medical Research Law and Policy Report
Volume 6 Number 20
October 17, 2007

The National Institutes of Health Oct. 1 announced it is making an
extensive collection of genetic and clinical data freely available to
researchers worldwide, in an effort designed to accelerate discoveries
linking genes and health and advance understanding of the causes and
prevention of diseases and disorders.

The SNP Health Association Resource (SHARe) is a Web-based dataset that
enables qualified researchers to access a wealth of data from large
population-based studies. SNP is short for "single nucleotide
polymorphism," a small genetic change that can occur within a person's
DNA sequence.

The data available in SHARe start with the Framingham study, the
landmark study that began in 1948 in collaboration with Boston
University to identify the common factors or characteristics that
contribute to cardiovascular disease. There are more than 9,300
participants spanning three generations--more than 900 families, whose
DNA has been tested for 550,000 genetic variations. The database also
includes the participants' clinical data gathered during the study, such
as test results or weight.

"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," NIH Director Elias Zerhouni said in an Oct. 1 statement. "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."

Investigators will access SHARe through NIH's database of genotypes and
phenotypes, known as dbGaP. Available at
http://view.ncbi.nlm.nih.gov/dbgap, dbGAP is a Web-based resource for
archiving and distributing data from genome-wide association studies
(GWAS) that explore the associations between genes and observable traits
such as weight, cholesterol levels, or the presence or absence of a disease.

Framingham Heart Study Data

Health and Human Services Secretary Michael O. Leavitt said the
widespread availability of Framingham Heart Study data provides
unprecedented opportunities to investigate the connections between genes
and disease.

"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," he said.

The SHARe data in dbGaP includes only de-identified data from
participants who have consented to genetic research and to allowing
their data to be shared. Although summary data and analyses are
open-access, individual-level data can be used only by authorized
investigators who meet requirements for access outlined in the NIH GWAS
policy. Researchers are prohibited from redistributing data or trying to
determine the identity of participants, NIH said.

NIH said 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.

"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," according to Christopher
O'Donnell, 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 conditions."

--
Mike Palmedo
Research Coordinator
Program on Information Justice and Intellectual Property
American University, Washington College of Law
4910 Massachutsetts Ave., NW Washington, DC 20016
T - 202-274-4442 | F 202-274-0659
mpalmedo@wcl.american.edu