Future Use of Stored Samples & Data and the NIH Policy on GWAS and dbGaP NIAID/DAIDS Dione Washington, M.S. -- ProPEP Sudha Srinivasan, Ph.D.-- TRP Tanisha Savage-- ProPEP (HJF-DAIDS) DAIDS Regional Training Event 2012 Johannesburg, South Africa

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 NIAID/DAIDS

NIH GWAS Policy and dbGaP Guidelines NIAID/DAIDS

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. NIAID/DAIDS

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 NIAID/DAIDS

What is in dbGAP? Includes individual level phenotype /exposure such as height, weight, blood pressure, blood glucose (diabetes) and others… Genotype and sequence data Associations between clinical/ phenotypic data such as blood pressure, height, weight., etc. and genotype and sequence data Can be for individuals or groups of people DE-IDENTIFIED data at all levels NIAID/DAIDS

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 NIAID/DAIDS

Data Sharing Data submitted for the GWAS repository has to be coded and de identified by the submitting investigator Investigator 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 NIAID/DAIDS

Data de-identification DATA needs to de identified, and the 18 identifiers enumerated at section 45C.F.R (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 NIAID/DAIDS

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 expertise Users wishing access to controlled data must submit a Data Use Certification (DUC) which must be approved by the DAC committee NIAID/DAIDS

Data access: Who can access the data and how? Tiered data access Public and Authorized users Vetting process by DAC committee and approved before given access eRA commons ID needed for access Foreign investigators must have eRA account or collaborate with other investigator who does NIAID/DAIDS

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… NIAID/DAIDS

Data Security Very 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 NIAID/DAIDS

What’s next after GWAS? New but similar NIH Policy for…. Sequencing: Exome, Deep, Whole Genome Sequencing…… ‘OMICS’ Era Genomics Transcriptomics Proteomics ……….. NIAID/DAIDS

Description of the Stored Samples Consent Template NIAID/DAIDS

Meets: 45 CFR and CFR and 27 (if applicable) NIH Policy for GWAS and dbGaP DAIDS Policy Addresses: Best practices and future trends in genetics research Use of samples and data in future research Fully Compliant NIAID/DAIDS

Element 1: Involves research and describes procedures. Describe the purpose of this study Discover 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 NIAID/DAIDS

Element 2: Describes foreseeable risks and discomforts Physical Risks Possible 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 privacy Risk associated to genetic research Basic Elements of Informed Consent NIAID/DAIDS

Element 3: Describes reasonably expected benefits There may be no direct benefit New 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 NIAID/DAIDS

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 NIAID/DAIDS

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 NIAID/DAIDS

Element 6: Explains compensation and available medical treatment Indicate what participants will receive for their participation in this study Clearly state there will be no financial compensation for products from study related samples If injury occurs, describe whether medical treatments are available and where further information may be obtained Basic Elements of Informed Consent NIAID/DAIDS

Element 7: List contact for research related questions Element 8: States voluntariness and no loss of benefits Basic Elements of Informed Consent NIAID/DAIDS

Thank You! NIAID/DAIDS