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Epidemiology and Genetics Research Program
Division of Cancer Control and Population Sciences
May 17 , 2006 |
EGRP NEWS FLASH
From the Epidemiology and Genetics Research Program
Division of Cancer Control and Population Sciences
National Cancer Institute
NIH Notice to Investigators Planning to Conduct Genome-Wide Association
Studies – Effective Immediately
The following Notice to Grant Applicants for NIH Genome-Wide Association
Studies was released in the NIH Guide for Grants and Contracts on
May 15, 2006. Genome-wide association studies (GWAS) are currently
defined as any study of genetic variation across the entire genome that
is designed to identify genetic associations with phenotypic traits or
disease status.
The Notice is to inform investigators of the National Institutes of
Health’s (NIH) plans to update data sharing policies for research
applications involving GWAS data, initiate a public consultation process
to inform policy development activities over the next few months, and
announce the agency's intent to track GWAS applications and awards at
a central level.
Please note that starting immediately, the issues listed in
the Notice are to be addressed carefully in any GWAS applications to
NIH, including applications submitted in response to specific GWAS
Request for Applications (RFA) that some Institutes/Centers have already
released, as well as applications for future RFAs or Program Announcements
(PA) and unsolicited applications for any of the Institutes/Centers.
Notice to Grant Applicants for NIH Genome-Wide Association Studies
The National Institutes of Health (NIH) is interested in advancing genome-wide
association studies (GWAS) to identify common genetic factors that influence
health and disease because the information derived from such studies
will be essential for developing new approaches to reduce disease burden
and promote health. GWAS are currently defined as any study of genetic
variation across the entire genome that is designed to identify genetic
associations with phenotypic traits or disease status. The purpose of
this Notice is to inform investigators of the NIH plans to:
(1) update data sharing policies for research applications involving
GWAS data,
(2) initiate a public consultation process to inform policy development
activities over the next few months, and
(3) announce the agency's intent to track GWAS applications and awards
at a central level.
Need for Broad Data Sharing Policies
Rapid advances in understanding the patterns of human genetic variation
and maturing high-throughput, cost-effective methods for genotyping are
providing powerful research tools for identifying genetic variants that
contribute to health and disease. Consistent with the NIH mission to
improve public health through research and the longstanding NIH policy
to make available to the public the results of the research activities
that it funds, the NIH has concluded that the full value of GWAS can
be realized only if the genotype and phenotype datasets derived from
GWAS are made available as rapidly as possible to a wide range of scientific
investigators. The NIH recognizes that GWAS data release practices must
be consistent with the informed consent provided by individual participants
and, therefore, encourages investigators to develop informed consent
approaches in the future that permit such data sharing.
The NIH considers broad data access to be particularly important for
GWAS because of the significant resources involved (which necessarily
limits the number of projects that can be supported for any disease),
the serious analytical challenges involved in such large datasets, and
the powerful opportunities that will be provided by the ability to make
comparisons across multiple studies.
Plans for Public Consultation
To ensure maximum benefit to the public health, the NIH is considering
policy and programmatic steps to promote broad and consistent sharing
of GWAS data for all NIH-supported GWAS genotype-phenotype datasets,
such as strong encouragement for early release of phenotype and genotype
data, and the development of a central database to serve as a common
GWAS repository (consistent with human subject protection issues). Recognizing
the range of issues to be considered, the NIH plans to undertake an extensive
public consultation effort through interactions with scientific and public
stakeholders . The specific plans for these activities will be announced
broadly in the near future. Among the potential topics to be considered
are: the creation of a central genotype-phenotype database that could
serve as a common data repository for all NIH-supported GWAS, requirements
for submission of data to such a common repository, appropriate policies
for access to GWAS data, standards for participant protection in this
rapidly evolving area of science, publication polices that recognize
the interests of the researchers who collect samples and associated data,
And Intellectual Property Considerations For Inventions Arising From
The Use Of GWAS Data.
Tracking of GWAS Applications and Awards
The NIH encourages applications for large-scale genome-wide genotyping
in areas of programmatic relevance to Institutes/Centers (ICs) throughout
the NIH during this period of rapid development in the associated technology,
science, and policy arenas. The NIH will begin tracking GWAS applications
at a central level, because these studies are likely to result in findings
that will have relevance across a broad spectrum of topics related to
health and disease in a way that was not possible previously. Therefore,
the NIH requests that all proposed GWAS applications cite this Notice
in a cover letter that accompanies the application.
Among the issues that should be addressed in applications by investigators
for GWAS are:
- evidence for a genetic contribution
to the trait(s) or disorder(s) to be studied,
- the size of the genetic
effect and the power required to detect it,
- the potential public health
significance of the trait(s) or disorders(s) to be studied,
- the quality
and extent of the available phenotype and exposure data in the sample
population(s) to be studied,
- human subjects issues and potential
privacy concerns,
- plans for data sharing and handling,
and
- intellectual property.
A number of these issues are crucial to determining the potential utility
of a whole genome analysis strategy and thus the scientific merit and
relative program priority of individual studies. The inclusion of detailed
phenotypic characterization of the subjects and descriptions of any endophenotypes
or secondary phenotypes that have been measured will be essential to
determine funding priority. Human subjects and potential privacy issues,
if applicable, must be fully addressed prior to the award of funds. Plans
for data sharing and how the institution will handle intellectual property
will determine whether NIH policy goals can be met by studies described
in applications for NIH funds.
Starting immediately, the issues listed above should be addressed carefully
in any GWAS applications to NIH, including applications submitted in
response to specific GWAS Request for Applications (RFA) that some ICs
have already released, as well as applications for future RFAs or Program
Announcements (PA) and unsolicited applications for any of the ICs.
Inquiries
The NCI contact for specific questions about the Notice is
Daniela Seminara, Ph.D., M.P.H., Scientific Program Officer, Breast
and Colon Cancer Family Registries, and Program Director, Genetic Epidemiology
of Cancer,
Epidemiology and Genetics Research Program, Division of Cancer Control
and Population Sciences, National Cancer Institute, National Institutes
of Health,
6130 Executive Blvd., EPN 5142, MSC 7393, Bethesda, MD 20892; Tel: 301-594-7347;
Fax: 301-435-5477; E-mail: seminard@mail.nih.gov.
Please refer to the Notice, NOT-OD-06-071, for a list of staff contacts
for other components of NIH.
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