NIH GWAS Data Sharing Policy

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NIH Policy for Data Sharing: Genome Wide Association Studies

(GWAS)

2008 NIH Regional SeminarsSally A. Amero, Ph.D.

NIH Review Policy OfficerOffice of Extramural Research

POLICY OVERVIEW

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GWAS – Genome Wide Association Studies• Studies of genetic variation across the

(entire) human genome• Designed to identify associations

between genetic markers &observable traits, or the presence/absence of a disease or condition

• Often markers of modest effect

NIH GWAS Data Sharing Policy

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Guiding Principle

The greatest public benefit will be realized if data from GWAS are made available, under terms and conditions consistent with the informed consent provided by individual participants, in a timely manner to the largest possible number of investigators.

NIH GWAS Data Sharing Policy

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NIH GWAS Data Sharing Policy

• Current NIH GWAS data repository = dbGaP• NIH-wide (all ICs)• Effective for January 25, 2008 receipt dates

and thereafter

• No direct cost threshold• Expectation, not a requirement• May be required for some FOAs

NIH Policy - GWAS(http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-088.html)

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Data Sharing PlansExpected in …

• Research grant applications• Proposals for contracts

… that propose a GWAS component

NIH GWAS Data Sharing Policy

Does not apply to studies of:• Acquired variation

• Particular sets of genes• Genomes in other species

• Linkage or• Genotyping facility.

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Data Sharing PlansExpected in …

• Research grant applications• Proposals for contracts

… that propose a GWAS component

NIH GWAS Data Sharing Policy

Or applicant may justify why GWAS data cannot be shared

• Limitations in informed consent• Risks to specific populations, groups, communities,

or individuals Not sharing is an exception that will be considered on a case-by-case basis.

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Data Sharing PlansPeer reviewers

• Will consider appropriateness of data sharing plan

• Comments included in summary statement (as an Administrative Note)

• Will evaluate reasonableness of proposed budget

NIH GWAS Data Sharing Policy

Merit rating not affected unless stated otherwise in Announcement.

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Data Sharing Plans• If plan is adequate: Terms & conditions on GWAS data sharing will be included in the Notice of Award

NIH GWAS Data Sharing Policy

• If plan is inadequate: NIH Program Officer will work with applicant to negotiate a revised plan or Award may be restricted or not funded.

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Annual Progress ReportsGrantees describe:

• How data has been shared• Whether this approach is consistent with

their submitted and approved plan

NIH GWAS Data Sharing Policy

In early years of award, data may not be available for sharing.

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Core Elements of the NIH GWAS Policy

• Data Management– Protection of research participants– Data submission procedures– Data access principles

• Scientific Publication

• Intellectual Property

NIH GWAS Data Sharing Policy

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NIH GWAS Data Sharing Policy

Research

Participants

Informedconsent

Submitting

Investigators

GWAS data repository

Identifying

information removed,

replaced with

random

unique code

RecipientInvestigator

s

Data

Access Request

for Codeddata

GWAS Data Management Data Access CommdbGaPNIH Staff POs/SROs/GMOs

Data Flow

Institutional Certification Data Use Certification

Data Submission& Management

Data Distribution &Secondary Use

Data Collection

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GWAS Data Management CONTINUED

NIH GWAS Data Sharing Policy

• Institutional Certification required to submit data to repository

• Data Use Certification (DUC) required to request data from repository

• NIH Data Access Committees (DACs) – Evaluate requests for data and proposed uses– Issue Data Use Certifications– Monitor annual progress reports– Federal officials

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Institutional Certifications (submitting)

• Data provided in accord with all applicable laws & regulations

• An IRB or Privacy Board has reviewed the submission plans

• Data coded by submitting investigators (no HIPAA identifiers)

• Key codes will not be shared with NIH GWAS data repository

• Limitations on data use requested at time of submission

NIH GWAS Data Sharing Policy

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Points to Consider for IRBshttp://grants.nih.gov/grants/gwas/gwas_ptc.pdf

NIH GWAS Data Sharing Policy

• Resource for IRBs and Privacy Boards

• Ethical issues

• Informed consent considerations, e.g.– Vulnerable populations– Proxy consent

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dbGaP (http://www.ncbi.nlm.nih.gov/sites/entrez?db=gap)

NIH GWAS Data Sharing Policy

• Public Access– Study protocols– Consent conditions, terms for data access– Summary phenotype and genotype data– Published genetic associations

• Controlled Access– Coded genotypes (codes reside with submitting

institution/investigator)– Phenotypes– Individual-level data

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Access to GWAS Data

NIH GWAS Data Sharing Policy

1. Log in (eRA or NIH)

2. Select dataset

3. Complete SF424

4. Institutional Signing Official

5. Submit to dbGaP

6. Referral to NIH DAC

7. Retrieve dataset

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Data Use Certification Agreements

NIH GWAS Data Sharing Policy

• Partial listing of requirements:Use data only for approved research Protect data confidentiality; not attempt to

identify individualsUse appropriate data security protections Follow all applicable laws, regulations, local

institutional policies & procedures for handling GWAS data

Agree to report violations of the GWAS policy to the appropriate DAC

Acknowledge the GWAS policy with regard to publication and intellectual property

Provide annual progress reports

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Scientific Publication

NIH GWAS Data Sharing Policy

Contributing investigators have exclusive right to submit publications for 12 months after their GWAS dataset is made available• Includes any form of public dissemination• Other uses of the data

allowable during this time- all investigators

• IC’s may impose shorter time

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Intellectual Property

NIH GWAS Data Sharing Policy

• NIH encourages broad use of GWAS data consistent with NIH’s Best Practices for Licensing with Genomic Inventions (http://www.ott.nih.gov/policy/lic_gen.html)

• NIH discourages premature claims

• Data submitters and users

must “acknowledge” this

position

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GWAS Oversight Structure

NIH GWAS Data Sharing Policy

Advisory Committee to the Director

NIH Director

Senior OversightCommittee

Technical StandardsSteering Committee

Participant Protection & Data Management Steering Committee

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Web resources• NIH GWAS page: http://grants.nih.gov/grants/gwas/

– Policy (Guide Notice and Federal Register)– Governance Structure– Frequently Asked Questions– Points to Consider for IRBs and Institutions– General Brochure– Data Sharing Plan– End to End Diagram– Archived Webcast of Town Hall Meeting

• dbGaP: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gap

NIH GWAS Data Sharing Policy