[Federal Register: August 30, 2006 (Volume 71, Number 168)]
[Notices]
[Page 51629-51631]
From the Federal Register Online via GPO Access [wais.access.gpo.gov]
[DOCID:fr30au06-128]
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DEPARTMENT OF HEALTH AND HUMAN SERVICES
National Institutes of Health
Request for Information (RFI): Proposed Policy for Sharing of
Data Obtained in NIH Supported or Conducted Genome-Wide Association
Studies (GWAS)
ACTION: Notice.
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SUMMARY: The NIH is seeking comments regarding a proposed policy for
NIH supported or conducted Genome-Wide Association Studies (GWAS). A
genome-wide association study is currently defined as any study of
genetic variation across the entire human genome that is designed to
identify genetic associations with observable traits (such as blood
pressure or weight), or the presence or absence of a disease or
condition. The proposed policy addresses (1) data sharing procedures,
(2) data access principles, (3) intellectual property and (4) issues
regarding the protection of research participants through all phases of
GWAS. Many of the principles contained in the policy reflect and extend
existing NIH polices (e.g., the 2003 data sharing policy \1\) and other
recent NIH discussions.\2\
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\1\ The 2003 NIH Data Sharing Policy applies to investigators
seeking $500,000 or more in direct costs in any year (http://grants2.nih.gov/grants/policy/data_sharing/data_sharing_guidance.htm
).
\2\ Request for Information on Modifications to the NHLBI Policy
for Distribution of Data from Clinical Trials and Epidemiology
Studies (http://www.nhlbi.nih.gov/funding/policies/rfi-genome.htm),
2006.
DATES: Reponses must be received by October 31, 2006 in order to ensure
that the NIH will be able to consider the comments when developing new
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policies.
FOR FURTHER INFORMATION CONTACT: Inquiries will be accepted at: http://grants.nih.gov/grants/guide/rfi_files/NOT-OD-06-094_rfi_add.htm.
or GWAS@nih.gov. Comments can be mailed to NIH GWAS RFI Comments, National
omments, National
Institutes of Health, Office of Extramural Research, 6705 Rockledge
Drive, Room 350, Bethesda, MD 20892-7963.
SUPPLEMENTARY INFORMATION:
Background
The NIH is interested in advancing GWAS to identify common genetic
factors that influence health and disease. Whole genome information,
when combined with clinical and other phenotypic data, offers the
potential for increased understanding of basic biological processes
affecting human health, improvement in the prediction of disease and
patient care, and ultimately the realization of the promise of
personalized medicine. In addition, 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.
For these reasons, the NIH announced this spring that it has planned
to: (1) Update the NIH data sharing policy for research applications
involving GWAS data; (2) initiate a public consultation process to
inform policy development activities; and (3) track GWAS applications
and awards at a central level (see http://grants.nih.gov/grants/guide/notice-files/NOT-OD-06-071.html
). This RFI serves as the first step in
the public consultation process referenced in the May 15, 2006 Notice.
Protecting Research Participants. The potential for public benefit
to be achieved through sharing GWAS data is significant. However,
genotypic and phenotypic information generated about individuals, such
as data related to the presence or risk of developing particular
diseases or conditions, and information regarding paternity or
ancestry, may be sensitive and substantial. Therefore, it is critically
important that the privacy and confidentiality of the participants be
protected. Risks to individuals, groups, or communities should be
carefully balanced with potential benefits of the knowledge to be
gained through GWAS. The nature of GWAS information about participants
and the broad data distribution goals of the NIH GWAS data repository
highlight the importance of the informed consent process to this
research. In order to protect research participants, the NIH will
establish mechanisms to oversee the repository and monitor GWAS data
use practices.
The NIH recognizes that there are evolving scientific, ethical and
societal issues relevant to this proposed policy and will revisit and
revise the policy as appropriate.
Proposed Policy for Genome-Wide Association Studies (GWAS)
Principles
Consistent with both the NIH mission to improve public health
through research and its longstanding legislative mandate to make
available to the public the results of the research activities that it
supports and conducts, the NIH believes that the full value of GWAS to
the public can be realized only if the genotype and phenotype datasets
are made available as rapidly as possible to a wide range of scientific
investigators. Rapid and broad data access is particularly important
for GWAS because of the significant resources involved; the challenges
of analyzing large datasets; and the extraordinary opportunities for
making comparisons across multiple studies.
Protection of research participants is a fundamental principle
underlying biomedical research. The NIH is committed to responsible
stewardship of data throughout the research process, which is essential
to protecting the interests of study participants and to maintaining
public trust in biomedical research.
Applicability
This draft policy is proposed to apply to active research
applications identified by applicants or NIH staff as GWAS per NOT-OD-
06-071.
Data Management
Data Repository. To facilitate broad and consistent access to NIH-
supported GWAS datasets, the NIH proposes the development of a central
GWAS data repository, at the NIH (National Center for Biotechnology
Information [NCBI], National Library of Medicine). The repository will
provide a single point of
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access to basic information about NIH-supported GWAS and to available
genotype-phenotype datasets for GWAS. Although the NIH envisions that
access to all NIH-supported GWAS datasets will be possible through this
repository, it does not intend this repository to become the exclusive
source of these data. The repository will also accept GWAS datasets
contributed from other sources.
Data Submission. All investigators who receive NIH support to
conduct genome-wide analysis of genetic variation in a study population
are expected to submit to the GWAS data repository descriptive
information about their studies for inclusion in an open access portion
of the GWAS data repository. This information should include the
following:
The protocol,
Questionnaires,
Study manuals,
Variables measured, and
Other supporting documentation.
In addition, the NIH strongly encourages the submission of curated
and coded phenotype, exposure, genotype, and pedigree data, as
appropriate, to the GWAS data repository as soon as quality control
procedures have been completed at the local institution. These detailed
data will be made available through a controlled access process
according to the GWAS Data Access procedures (described below).
Investigators who elect to submit their GWAS data to additional data
repositories or networks should verify that appropriate data security,
confidentiality, and privacy measures are in place for the protection
of GWAS participants.
In order to minimize the risks to study participants, data will be
submitted to the GWAS data repository without identifiable information
and using a random, unique code. Keys to codes will be held by
submitting institutions. Submissions of GWAS data should be accompanied
by a written certification stating that the identities of research
participants will not be disclosed to the GWAS data repository or to
secondary users of the coded data without appropriate institutional
approvals. Therefore, research participants should not expect the
return of individual research results derived from analyses of
submitted data.
All submissions to the GWAS data repository should be accompanied
by:
A certification by the responsible IRB that they have
reviewed and approved the submission to the GWAS data repository,
noting specifically that:
[cir] Inclusion in the GWAS data repository and subsequent sharing
for appropriate research purposes is consistent with the initial
informed consent process of study participants from whom the data were
obtained; and
[cir] Identifying any uses of the data that are specifically
excluded within the informed consent provided by study participants,
which will be noted in the database; and
A statement from the institution from which data are
contributed that submission of the data is in accord with all
applicable laws and regulations.\3\
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\3\ Applicable Federal regulations may include HHS human
subjects regulations (45 CFR Part 46), FDA human subjects
regulations (21 CFR Parts 50 and 56), and the Health Insurance
Portability and Accountability Act Privacy Rule (45 CFR Part 160 and
Part 164, Subparts A and E).
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Data Access. The basic descriptive information submitted to the
GWAS data repository for each NIH-conducted or supported GWAS will be
available to the public through the GWAS data repository. Access to the
genotype and phenotype datasets submitted and stored in the GWAS data
repository along with pre-computed analyses (such as simple genotype-
phenotype associations and a listing of all variants known to be in
linkage disequilibrium \4\ with variants showing significant
association with a phenotype or trait) will be provided for research
purposes through an NIH Data Access Committee (DAC). NIH anticipates
that individual DACs may be established based on programmatic areas of
interest and the relevant needs for technical and ethics expertise. All
DACs will operate through common principles and under similar
mechanisms to ensure the consistency and transparency of the GWAS data
access process.
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\4\ Linkage disequilibrium information will be based on data
from the International HapMap Project (http://www.hapmap.org).
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Investigators seeking data from the GWAS data repository will be
asked to submit a Data Use Certification that is co-signed by the
designated Institutional Official, for approval by the appropriate NIH
DAC. Data Use Certifications should include a brief description of the
proposed research use of the requested GWAS dataset(s). Within a Data
Use Certification, investigators will stipulate that they will:
Use the data only for the approved research use;
Protect data confidentiality;
Follow all applicable laws and any local institutional
policies and procedures for handling GWAS data;
Not attempt to identify individual participants from whom
data within a dataset were obtained;
Not sell or share any of the data elements from datasets
obtained from the GWAS data repository with third parties; and
Provide annual progress reports on research.
Access to GWAS datasets through the GWAS data repository will be
approved by DACs following: (1) The completion of the Data Use
Certification; and (2) confirmation that the proposed research use is
consistent with any constraints identified by the institutions that
submitted the dataset to the GWAS data repository.
Publication
The NIH expects that for a defined period of time following the
release of a given genotype-phenotype dataset through the GWAS data
repository (including the pre-computed analyses of the data), the
investigators who contributed the data to the GWAS data repository
should retain the exclusive right to publish analyses of the dataset.
During this period of exclusivity, the NIH may grant access to other
investigators, who may analyze the data, but are expected not to
publish their analyses or conclusions during this period. This period
of exclusivity is presently anticipated to be nine months from the date
that the GWAS dataset is made available for access through the GWAS
data repository, although a shorter period of exclusivity may be
requested by the NIH funding Institute or Center. Contributing
investigators are encouraged to shorten any such period of publication
exclusivity at their own discretion. Following the expiration of the
exclusive publication period for a given GWAS dataset, NIH expects that
any investigator with access to the data may submit publications for
any purpose consistent with the practices and policies of their
institution and the NIH.
The NIH also expects that all investigators who access GWAS
datasets will acknowledge the Contributing Investigator(s) who
conducted the original study, and the funding organization(s) that
supported the work in all resulting oral or written presentations,
disclosures, or publications of the analyses.
Intellectual Property
It is the hope of the NIH that genotype-phenotype associations
identified through NIH-supported and maintained GWAS datasets and their
obvious implications will remain available to all investigators,
unencumbered by intellectual property claims. The NIH discourages
premature claims on pre-competitive information that may impede
research, though it encourages patenting of technology
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suitable for subsequent private investment that may lead to the
development of products that address public needs.
The NIH will provide approved GWAS data users with information
regarding any significant associations within GWAS genotype-phenotype
data and other pre-computed analyses (described under the Data Access
section on page 4) as a component of the GWAS datasets distributed
through the GWAS data repository.
The NIH expects that NIH-supported genotype-phenotype data made
available through the GWAS data repository and all conclusions derived
directly from them will remain freely available, without any licensing
requirements, for uses such as, but not necessarily limited to, markers
for developing assays and guides for identifying new potential targets
for drugs, therapeutics, and diagnostics. The intent is to discourage
the use of patents that would prevent the use of or block access to any
genotype-phenotype data developed with NIH support. The NIH encourages
broad use of NIH-supported genotype-phenotype data that is consistent
with a responsible approach to management of intellectual property
derived from downstream discoveries as outlined in NIH's Best Practices
for the Licensing of Genomic Inventions (http://www.ott.nih.gov/policy/genomic_invention.html) and its Research Tools Policy (http://
ott.od.nih.gov/policy/research--tool.html).
The filing of patent applications and/or the enforcement of
resultant patents in a manner that might restrict use of NIH-supported
genotype-phenotype data could substantially diminish the utilization of
information and the potential public benefit they could provide.
Approved Users and their institutions, through the execution of an NIH
Data Use Certification, will acknowledge the goal of ensuring the
greatest possible public benefit from NIH-supported GWAS.
Expectations for Investigators Under the Proposed Policy
Although the detailed expectations are enumerated in the individual
sections of this proposed policy, they are summarized as follows:
Investigators submitting GWAS data will be expected to:
Provide descriptive information about their studies;
Submit coded genotypic and phenotypic data to the GWAS
data repository;
Submit certification by the responsible IRB that it has
reviewed and approved submission to the NIH, noting any limitations on
data use based on the relevant informed consents; and
Submit an assurance from the responsible institution that
all data are submitted to the NIH in accord with applicable law.
Investigators requesting GWAS data will be expected to:
Submit a description of the proposed research project;
Submit a Data Use Certification co-signed by their
sponsoring institution;
Protect data confidentiality; and
Submit annual progress reports detailing significant
research findings.
Information Requested
The goal of the proposed policy is to advance science for the
benefit of the public through the creation of a centralized NIH GWAS
data repository. Maximizing the availability of resources facilitates
research and enables medical science to better address the health needs
of people based on their individual genetic information. The NIH is
seeking public input and advice on the overall concept of the proposed
policy and specific feedback on the following questions:
1. What are the potential benefits and risks associated with wide
sharing of phenotypic and genotypic data where identifying information
has been removed?
2. In addition to removing personal identifying information, what
protections are needed to minimize risks to research participants whose
phenotypic and genotypic data are included in a centralized NIH data
repository and shared with qualified investigators for research
purposes?
3. What are the advantages and disadvantages of the proposed:
a. Centralized NIH data repository?
b. Approach to data submission?
c. Approach to scientific publication?
d. Approach to intellectual property?
4. What specific resources may investigators and institutions need
to meet the goals of this proposed policy?
Responses
The NIH encourages comments concerning its proposed policy to
enhance access to GWAS data as outlined in this notice. Persons,
groups, and organizations interested in commenting on NIH's proposed
policy should direct their comments to the following NIH Web site:
http://grants.nih.gov/grants/guide/rfi_files/NOT-OD-06-094_rfi_add.htm.
As an alternative, comments may be submitted by e-mail to GWAS@nih.gov. or sent by mail to the following address: NIH GWAS RFI
S RFI
Comments, National Institutes of Health, Office of Extramural Research,
6705 Rockledge Drive, Room 350, Bethesda, MD 20892-7963.
Dated: August 24, 2006.
Sally Rockey,
Acting Deputy Director for Extramural Research, National Institutes of
Health.
[FR Doc. E6-14416 Filed 8-29-06; 8:45 am]
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