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Epidemiology and Genomics Research Program

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

June 11 & 12, 2012 in Rockville, MD


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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Carol Weil, JD
Program Director, Ethical and Regulatory Affairs
Cancer Diagnosis Program
Division of Cancer Treatment and Diagnosis

Leah Mechanic, PhD, MPH
Program Director, Genomic Epidemiology Branch
Epidemiology and Genomics Research Program
Division of Cancer Control and Population Sciences

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.


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
11:55 a.m. - 12:20 p.m. Hypothesis-Testing and Hypothesis-Generating Modes of Research
Leslie Bieseker, MD
Chief, Genetic Disease Research Branch
12:20 p.m. - 12:40 p.m. Discussion
Moderator: Erin Ramos, PhD, MPH
Epidemiologist, Office of Population Genetics
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
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

  1. What factors should be considered in the development of a Federal policy for access to publicly funded "omics" research data?
    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?
  2. What considerations enter into determining whether "omics" data is identifiable?
    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?
  3. What are appropriate ethical constraints to allowing researchers broad access to "omics" data?
    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?
  4. How can society minimize any risks and maximize any participant benefits of "omics" research?
    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

Ethics/Law/Human Subject Protections Publications

Genomics Publications

Industry Publications

Informatics Publications

Research Participant Advocacy Publications