Think Tank on the Identifiability of Biospecimens and "-Omic" Data

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Overview
Agenda
Breakout Sessions
Workshop Summary
Meeting Report
Bibliography

Overview

Concerns regarding the potential identifiability of individuals from genomic or other "-omic" data, and from donated biospecimens coupled with publicly accessible information, have given rise to privacy policies and data security requirements which could limit the pace of progress in cancer research. It is not clear whether such policies and requirements are in sync with research participant concerns, or further the protection of human subjects in meaningful ways. In a July 26, 2011 Advance Notice of Proposed Rulemaking, the U.S. Department of Health and Human Services' Office for Human Research Protections proposed that a human biospecimen be considered identifiable in and of itself.

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This approach would make any and all research with biospecimens, including research using "de-identified" tissue, subject to data security regulation. While many in the research community dispute the merits of requiring data protection for research with biospecimens that does not involve associated clinical data, the concept of anonymizing biological samples in today's rapidly evolving bioinformatics environment may be misleading.

The NCI Think Tank on the Identifiability of Biospecimens and "-Omic" Data was designed to address these issues in a thoughtful and constructive multi-disciplinary context. The Think Tank brought together a small group of experts from various disciplines: researchers, ethicists, privacy law experts, patient advocates, and industry representatives, to review the state of the science and to explore the ramifications of suggested policy alternatives.

Agenda

View Agenda for Day 1 of the Think Tank

June 11	Topic
8:30 a.m. - 8:45 a.m.	Welcome Carol Weil, JD Program Director for Ethical and Regulatory Affairs Cancer Diagnosis Program Division of Cancer Treatment and Diagnosis National Cancer Institute Laura Buccini, DrPH, MPH Associate Staff Digestive Disease Institute Cleveland Clinic
Keynote Speakers
8:45 a.m. - 9:20 a.m.	Is it or isn't it? Evolving Policy Considerations Regarding Genomic Data and Identifiability Laura Lyman Rodriguez, PhD Director, Office of Policy, Communications and Education National Human Genome Research Institute (NHGRI)
9:20 a.m. - 9:55 a.m.	Can You See the Real Me: Human Patients and Human Research Participants Misha Angrist, PhD, MS, MFA Assistant Professor Duke Institute for Genome Sciences & Policy
9:55 a.m. - 10:15 a.m.	Questions and Answers Nicole Lockhart, PhD National Cancer Institute
Invited Speakers and Discussion
10:15 a.m. - 10:40 a.m.	Omics and the Changing Face of Identifiability Brad Malin, PhD, MS Director, Health Information Privacy Laboratory Vanderbilt University
10:40 a.m. - 11:00 a.m.	Discussion Moderator: Steve Sherry, PhD, MA Chief, Reference Collections Section National Center for Biotechnology Information
11:00 a.m. - 11:10 a.m.	Break
11:10 a.m. - 11:35 a.m.	IRBs: Forced to Deal With "Identifiability" of Everything... a Daunting Mandate! P. Pearl O'Rourke, MD Director, Human Research Affairs Partners Health Care
11:35 a.m. - 11:55 a.m.	Discussion Moderator: Sara Chandros Hull, PhD Director, Bioethics Core NHGRI
11:55 a.m. - 12:20 p.m.	Hypothesis-Testing and Hypothesis-Generating Modes of Research Leslie Bieseker, MD Chief, Genetic Disease Research Branch NHGRI
12:20 p.m. - 12:40 p.m.	Discussion Moderator: Erin Ramos, PhD, MPH Epidemiologist, Office of Population Genetics NHGRI
12:40 p.m. - 1:40 p.m.	Lunch
1:40 p.m. - 2:05 p.m.	Portable Legal Consent John Wilbanks Senior Fellow in Entrepreneurship Ewing Marion Kauffman Foundation
2:05 p.m. - 2:30 p.m.	Making Sense of Genomics While Protecting People Deborah Collyar, President Patient Advocates in Research (PAIR)
2:30 p.m. - 2:50 p.m.	Discussion Moderator: Sharon Terry, MA President and Chief Executive Officer Genetic Alliance
2:50 p.m. - 3:15 p.m.	The Future of Genomic and Health Data Kenneth Chahine, PhD, JD Senior Vice President and General Manager Ancestry DNA, LLC
3:15 p.m. - 3:35 p.m.	Discussion Moderator: Kimberly Barnholt, PhD 23andMe
3:35 p.m. - 3:45 p.m.	Break
3:45 p.m. - 4:10 p.m.	Seeding the Data Commons: Legal Safe Harbors for Research Data Jane Yakowitz, JD Associate Professor of Law University of Arizona
4:10 p.m. - 4:30 p.m.	Discussion Moderator: Ellen Clayton, MD, JD Professor of Pediatrics, Professor of Law Vanderbilt University
4:30 p.m. - 5:00 p.m.	Wrap Up
5:00 p.m.	Adjournment

View Agenda for Day 2 of the Think Tank

June 12	Topic
9:00 a.m. - 9:30 a.m.	Summary of Day 1/ Break Out Group Instructions
9:30 a.m. - 11:30 a.m.	Break Out Sessions Group 1 Group 2 Group 3 Group 4
11:30 a.m. - 12:30 p.m.	Lunch
12:30 p.m. - 2:00 p.m.	Presentation of Break Out recommendations
2:00 p.m. - 2:30 p.m.	Wrap Up Carol Weil, JD and Laura Buccini, DrPH, MPH
2:30 p.m.	Adjournment

Breakout Sessions

View the questions discussed during the Breakout Sessions

What factors should be considered in the development of a Federal policy for access to publicly funded "omics" research data?
Subquestions:
1. Are different types and models of access (open versus controlled versus hybrid) appropriate for different types and levels of data (individual versus aggregate, genome wide association studies versus Whole Exome Sequencing versus Whole Genome Sequencing)?
2. Is there appropriate justification for treating "omics" data differently from other types of research data?
3. How should Federal policy take into account international data access and privacy standards?
4. What research data or analysis is still needed to address these questions?
What considerations enter into determining whether "omics" data is identifiable?
Subquestions:
1. What distinguishes "identifiable" data from "de-identified" data?
2. Can data ever truly be "de-identified" or is that concept outdated in the genomics era?
3. What criteria or standards should be used to establish whether particular types of "omics" research produce identifiable or de-identified data?
4. What research data or analysis is still needed to address these questions?
What are appropriate ethical constraints to allowing researchers broad access to "omics" data?
Subquestions:
1. What do we know about participant attitudes toward investigator access to their DNA and the privacy-utility tradeoff of limiting data access?
2. What do research participants and the public actually understand about use of DNA in research (e.g., growth of cell lines, induced pluripotent stem cells), and what should they be informed about before consenting to participate?
3. To what extent should the concepts of autonomy, beneficence, and justice limit access by researchers to an individual's "omics" data?
4. What research data or analysis is still needed to address these questions?
How can society minimize any risks and maximize any participant benefits of "omics" research?
Subquestions:
1. What are the risks of various "omics" research technologies and the data they can produce?
2. How can "omics" studies be designed to maximize individual participant, family, and community benefits (through, for example, the return of individual or group population research results)?
3. What public or regulatory policies would promote appropriate balance of the risks and benefits of "omics" research and help to avoid unwanted disclosures of identity and future uses of DNA for undesired purposes?
4. What research data or analysis is still needed to address these questions?

Workshop Summary

View Summary of the Think Tank on the Identifiability of Biospecimens and "-Omic" Data [PDF - 1.9 MB]

Meeting Report

Weil CJ, Mechanic LE, Green T, Kinsinger C, Lockhart NC, Nelson SA, Rodriguez LL, Buccini LD. NCI think tank concerning the identifiability of biospecimens and "omic" data. Genet Med. 2013 Dec;15(12):997-1003.

Bibliography of Relevant Publications by Participants

Data Sharing Policy Publications

Clayton EW, Ramos E, Rodriguez, LL et al. Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium. Genet Med. 2010 Oct; 12(10):616-20.
Im, HK et al. On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy. Am J Hum Genet. 2012 Apr 6; 90 (4):591-8.
Knoppers B et al. Towards a Data Sharing Code of Conduct for International Genomic Research. Genome Med. 2011 Jul 14; 3 (7): 46.
McGuire A et al. To share or not to share: A randomized trial of consent for data sharing in genome research. Genet Med. 2011 Nov; 13 (11):948-55.
Kauffman Task Force on Cost-Effective Health Care Innovation. Valuing Health Care: Improving Productivity and Quality [PDF - 3.67 MB]. Published April 2012.
Walker L et al. dbGAP Data Access Requests: A Call for Greater Transparency . Science Translational Medicine. 3:113cm34.
Wilbanks, J. Data Sharing as a Means to a Revolution . (PowerPoint presentation)

Ethics/Law/Human Subject Protections Publications

Angrist M. Here is a Human Being: At the Dawn of Personal Genomics. New York, NY: HarperCollins Publishers; 2010.
Gellman R. Why Deidentification Fails Research Subjects and Researchers. Am J Bioeth. 2010 Sep; 10(9): 28-30.
Rothstein M. Is Deidentification Sufficient to Protect Health Privacy in Research? Am J Bioeth. 2010 Sep; 10 (9): 3-11.
Schwartz PM and Solove DJ. The PII Problem: Privacy and a New Concept of Personally Identifiable Information . NYU Law Rev. 2011; 86: 1814.
Tabor HK, Hull SC et al. Genomics Really Gets Personal: How Exome and Whole Genome Sequencing Challenge the Ethical Framework of Human Genetics Research. Am J Med Genet A. 2011 Dec; 155A(12): 2916-24.
Wagner J. Cockamamie State Laws Threaten Genetic Rights. Nat Med. 2012; 18:485.
Yakowitz Baumbauer J. Tragedy of the Data Commons . Harvard Journal of Law and Technology. 2011; 25.

Genomics Publications

Biesecker LG et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009 Sep; 19(9):1665-74.
Chanock SJ and Thomas G. The Devil is in the DNA. Nat Genet. 2007 Mar; 39 (3): 283 - 284.
NOVA. Public Genomes: Expert Q&A . (features G. Church)
Schadt E et al. Baysian Method to Predict Individual SNP Genotypes from Gene Expression Data. Nat Genet. 2012 May; 44 (5):603-8.

Industry Publications

Chahine K. Industry Opposes Genomic Legislation. Nat Biotechnol. 2002 May; 20 (5):419.
YouTube. Q&A at TEDMED 2011 . (featuring A. Dombkowski)

Informatics Publications

Greenbaum D, Gerstein M et al. Genomics and Privacy: Implications of the New Reality of Closed Data for the Field. PLoS Comput Biol. 2011 Dec; 7(12): e1002278.
Holman J, Ma ZQ, Tabb D. Identifying Proteomic LC-MS/MS Data Sets with Bumbershoot and IDPicker. Curr Protoc Bioinformatics. 2012 Mar; Chapter 13; Unit 13.17.
Homer N, Craig D et al. Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays. PLoS Genet. 2008 Aug 29; 4 (8): e1000167.
Malin B, Clayton EW et al. Identifiability in Biobanks: Models, Measures, and Mitigation Strategies. Hum Genet. 2011 Sep; 130 (3), 383-92.
Sherry S et al. dbSNP: the NCBI Database of Genetic Variation. Nucleic Acids Res. 2001 Jan 1; 29 (1):308-11.
Mailman M, Ostell J, Sherry S et al. The NCBI dbGaP database of genotypes and phenotypes. Nat Genet. 2007 Oct; 39(10):1181-6.

Research Participant Advocacy Publications

Collyar DE. Biospecimens and People: A Fundamental Connection. J Natl Cancer Inst Monogr. 2011; 41-2.

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Last Updated: 15 Mar, 2023