NIAID/DAIDS

Future Use of Stored Samples & Data and the NIH Policy on GWAS and dbGaP

Dione Washington, M.S. -- ProPEPSudha Srinivasan, Ph.D.-- TRP

Tanisha Savage-- ProPEP (HJF-DAIDS)

DAIDS Regional Training Event 2012Johannesburg, South Africa

NIAID/DAIDS

To inform stakeholders about the NIH Policy on GWAS and dbGaP and trends in genetic research.To describe the implications for future use of stored samples & data.

Objectives

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NIH GWAS Policy and dbGaP Guidelines

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The database of Genotypes and Phenotypes (dbGaP) was developed to archive and

distribute the results of studies that have investigated the interaction of genotype

and phenotype.

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Data Deposition in dbGAP

All studies funded after Jan 25, 2008 are subject to data deposition as per NIH GWAS policy guidelines

Studies funded prior to this date are not required to do so, but NIH believes in data sharing and would like the investigators to do so if possible

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What is in dbGAP?

Includes individual level phenotype /exposure such as height, weight, blood pressure, blood glucose (diabetes) and others…Genotype and sequence dataAssociations between clinical/ phenotypic data such as blood pressure, height, weight., etc. and genotype and sequence dataCan be for individuals or groups of peopleDE-IDENTIFIED data at all levels

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Types of data in dbGAP[1] Study documentation, including study

description, protocol documents, questionnaires

[2] phenotypic data for each variable assessed-individual and summary form

[3] genetic data, including individual study subjects’ genotypes and sequence data

[4] statistical results including association and linkage analyses, when available

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Data SharingData submitted for the GWAS repository has to be coded and de identified by the submitting investigatorInvestigator retains the key to the code that would link to specific individuals or groups.NIH would never receive the code or any other information that would enable the identification of the individuals

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Data de-identificationDATA needs to de identified, and the 18 identifiers enumerated at section 45C.F.R. 164.514 (b) (2) –HIPAA privacy rule enacted in 1996 have to be removed

IRBs/Privacy Board officials of the submitting institutions are responsible for ensuring that data submission is in compliance of NIH policy

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Data Access Committee (DAC)

Adjudicating or oversight group for the GWAS policy

grants access to controlled data in dbGAP, assures appropriate data use

Data Access Committee is comprised of individuals with different technical and ethical expertiseUsers wishing access to controlled data must submit a Data Use Certification (DUC) which must be approved by the DAC committee

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Data access: Who can access the data and how?

Tiered data access Public and Authorized usersVetting process by DAC committee and approved before given access eRA commons ID needed for accessForeign investigators must have eRA account or collaborate with other investigator who does

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Why do we need to share GWAS and other data?

GWAS particularly powerful for the study of common complex diseases, where the individual genetic contributions to the disease are expected to be relatively weak

GWAS most informative when the study population is large- the larger the population, the greater the statistical power to find real associations and address multiple research hypotheses…

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Data SecurityVery secure

Data only released in encrypted files to authorized users

Each scientist using the data is responsible for establishing a secured facility for local use of the data

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What’s next after GWAS? New but similar NIH Policy

for….Sequencing: Exome, Deep, Whole Genome Sequencing……‘OMICS’ EraGenomicsTranscriptomicsProteomics ………..

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Description of the Stored Samples Consent Template

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Meets:45 CFR 46.116 and 117 21 CFR 50.25 and 27 (if applicable)NIH Policy for GWAS and dbGaPDAIDS Policy

Addresses:Best practices and future trends in genetics researchUse of samples and data in future research

Fully Compliant

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Element 1: Involves research and describes procedures.

Describe the purpose of this studyDiscover genetic changes associated with HIV/AIDS

Collection of additional (e.g. blood/body fluids/tissue) for future genetic testing, sequencing, and use in research

Basic Elements of Informed Consent

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Element 2: Describes foreseeable risks and discomforts

Physical RisksPossible side effects from drawing the blood sample include mild pain, bleeding, bruising, and infection at the site of the needle insertion

Psychological or Social Risks Associated with Loss of Privacy

Loss of privacyRisk associated to genetic research

Basic Elements of Informed Consent

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Element 3: Describes reasonably expected benefits

There may be no direct benefitNew and improved medical care, treatment and prevention of this HIV/ AIDS for others based on genetic result(s)This study may increase overall understanding about HIV/AIDS

Basic Elements of Informed Consent

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Element 4: Discloses alternatives to participating in the research

An alternative option is not to participate

Elect not to grant permission for storage of samples (e.g. blood/body fluids/tissue)

An alternative option is to withdraw consent

Basic Elements of Informed Consent

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Element 5: States how confidentiality is maintained

Describe how research study data would be used, stored, and/or shared

Describe the level of confidentiality (e.g., identifiable, coded, or anonymized samples)

Basic Elements of Informed Consent

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Element 6: Explains compensation and available medical treatment

Indicate what participants will receive for their participation in this studyClearly state there will be no financial compensation for products from study related samplesIf injury occurs, describe whether medical treatments are available and where further information may be obtained

Basic Elements of Informed Consent

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Element 7: List contact for research related questions

Element 8: States voluntariness and no loss of benefits

Basic Elements of Informed Consent

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Thank You!

For questions contact ProPEP at NIAIDOPCROPOLICYGROUP@mail.nih.gov