|Guidelines for Returning Individual Results from Genomic Research Using Population-Based Banked Specimens: A Workshop|
|Population surveys traditionally obtain information from answers to questions about behaviors, attitudes, and other characteristics. In recent years, many surveys have collected not only questionnaire answers, but also biologic specimens, such as blood samples, saliva, and buccal swabs, from which respondents’ DNA can be ascertained along with other biomarkers (e.g., the level of a certain protein in the blood). The National Health and Nutrition Examination Survey (NHANES), an annual survey sponsored by the National Center for Health Statistics (NCHS), has been collecting and storing genetic specimens since 1991, and longitudinal surveys, such as the Health and Retirement Study (HRS) funded by the National Institute on Aging, have followed suit. Sponsors of such surveys generally want to retain data for a wide range of secondary uses, many of which are not foreseen at the time of data collection. They will so inform respondents that their data will be stored in a secure manner and provided to researchers and other data users with suitable protections against individual identification. |
The addition of biologic specimens to a survey complicates storing, protecting, and providing access to such data and measurements made from them. There is also the question of whether, when, and for which biologic measurements the results should be reported back to the individual respondents. NHANES, which administers a complete physical examination, has developed over the years protocols for informing respondents of which test results (e.g., cholesterol levels in blood) will be reported back to the individual respondent. However, for genetic specimens, NHANES and other surveys have not until recently seen a need to do other than inform respondents that no DNA test results will be reported back to them. Two reasons supported this blanket non-reporting procedure: (1) the cost of DNA analysis; and (2) the paucity of robust research findings on the relationship of a gene or group of genes to specific diseases or syndromes, so that reporting back to a respondent his or her possession of a gene or gene sequence would not be informative.
Recently, the cost of full genomic sequencing has plummeted, and research findings are beginning to accumulate that bear up under replication and that potentially have clinical implications for a respondent. Biomedical research studies, in which participants are asked to donate tissues for genetic studies and are usually told that they will not be contacted with any results, are increasingly confronting the issue of when and which DNA results to return to participants. A 2-year NIH study recently produced recommendations for biobanks and archived data sets, concluding that genetic findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors (Wolf, Crock, Van Ness, et al., Genetics in Medicine, April 2012).
Population surveys that collect biologic specimens are now confronting similar issues, with the added difficulties that survey organizations are not equipped to provide such services as genetic counseling that may be advisable when returning DNA results to individual participants. In addition, in the case of a repeated cross-sectional survey such as NHANES, it may be years between the time when the respondent provided specimens and the time when a meaningful result is obtained from the data that could be a candidate to report back.
NCHS and its Ethics Review Board recognized the need to establish principles and best practices for reporting individual results from genomic research using archived specimens from NCHS surveys. NCHS developed an action plan for NHANES that would involve (1) an attempt to re-contact all previous respondents and obtain their consent (or not) to report back findings; and (2) a revision of consent information for future respondents. The plan also considered how and by whom decisions should be reached as to actionable findings. However, the NCHS Board of Scientific Counselors recommended that NCHS delay implementing its plan, which could be costly and have unintended consequences from respondents' reactions, until there had been further input from a wide range of perspectives through a workshop convened by the National Academies. NCHS plans a moratorium on collecting genetic specimens in NHANES until the workshop has been held and its discussions absorbed.
Steering Committee Members
Wylie Burke (Chair), Department of Bioethics and Humanities, University of Washington
Eileen M. Crimmins, Davis School of Gerontology, University of Southern California
Leslie G. Biesecker, Genetic Disease Research Branch, National Human Genome Research Institute
Jeffrey Botkin, Division of Medical Ethics and Humanities, University of Utah
Ellen Wright Clayton, Center for Biomedical Ethics and Society, Vanderbilt University
Mildred K. Cho, Center for Biomedical Ethics, Stanford University School of Medicine
February 10-11, 2014
List of Presenters
An ad hoc steering committee organized a public workshop on guidelines and best practices for returning individual results from genome research using population-based banked specimens. The workshop was requested by the National Center for Health Statistics, which has collected genetic specimens in household-based population surveys dating back to 1991. The workshop agenda addressed such issues as:
- How population surveys, such as the National Health and Nutrition Examination Survey (NHANES) and others, should implement the reporting of results from genomic research using stored specimens, identifying options for reporting and their advantages and challenges.
- In the context of ever-changing guidance in medical ethics for reporting results from genomic studies, how population surveys should address informed consent for future data collection, as well as implementing the return of results for banked specimens covered by informed consent that did not envision this possibility. Options will be identified and their advantages and challenges considered.
Following the workshop, a designated rapporteur will prepare an individually authored summary of the presentations and discussion.
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(Please note that the presentations included
here may be subject to
of the individual presenters.)
Genomics in population-based data collection: The example of the National Health and Nutrition Examination Survey (NHANES)
Kathryn Porter, National Center for Health Statistics
Perspectives on returning genome-based research results
Henry Richardson, Georgetown University
Steven Joffe, University of Pennsylvania
Susan Wolf, University of Minnesota
Framing the discussion
Gail Jarvik, University of Washington
Benjamin Berkman, National Human Genome Research Institute
How is NHANES similar to/different from other population-based studies?
Carolyn Halpern, University of North Carolina
David Weir, University of Michigan
Martha McClintock, University of Chicago
Robert Hauser, National Research Council
John Moye, National Institute of Child Health and Human Development
Tina Hambuch, Illumina
Issues for the NHANES
Sharon Kardia, University of Michigan
Marc Williams, Geisinger Genomic Medicine Institute
Muin Khoury, Centers for Disease Control and Prevention
Laura Beskow, Duke University
The logistics of returning genomic results from NHANES
Kathryn Porter, National Center for Health Statistics
Kelly Edwards, University of Washington
Barbara Biesecker, National Human Genome Research Institute
Special considerations for reporting of results in NHANES and similar surveys
Jennifer Madans, National Center for Health Statistics
Jeffrey Botkin, University of Utah
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Other Materials of Interest
Views of Genetics Health Professionals on the Return of Genomic Results
National Health and Nutrition Examination Survey
Ethics and Genomic Incidental Findings, Science 340, May 2013
Patient Autonomy and Incidental Findings in Clinical Genomics, Science 340, May 2013
Raw Personal Data: Providing Access, Science 343, January 2014
NHANES 2011-12 Consent Forms