Population surveys traditionally collect information from respondents about their circumstances, behaviors, attitudes, and other characteristics. In recent years, many surveys have been collecting not only questionnaire answers, but also biologic specimens such as blood samples, saliva, and buccal swabs, from which a respondent’s 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), sponsored by the National Center for Health Statistics (NCHS), has been collecting and storing genetic specimens since 1991, and other surveys, such as the Health and Retirement Study (HRS) funded by the National Institute on Aging, have followed suit. In order to give their informed consent to participate in a survey, respondents need to know the disposition and use of their data. Will their data be used for one research project and then destroyed, or will they be archived for secondary use? Sponsors of repeated cross-sectional surveys, such as NHANES, and of longitudinal surveys that follow panels of individuals over time, such as HRS, generally want to retain data for a wide range of secondary uses, many of which are not explicitly foreseen at the time of data collection. They typically inform respondents that their data will be stored in a secure manner and may be provided to researchers with suitable protections against individual identification.
The addition of biologic specimens to a survey adds complications for storing, protecting, and providing access to such data and measurements made from them. There are also questions of whether, when, and
for which biologic measurements the results should be reported back to individual respondents. NHANES, which administers a complete physical examination including the taking of various biologic specimens, has developed protocols for informing respondents of which test results (e.g., cholesterol levels in blood) will be reported 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 nonreporting procedure: (1) the cost of DNA analysis; and, more importantly, (2) the paucity of robust research findings on the relationship of a gene or group of genes to specific diseases or syndromes, which meant that reporting of a respondent’s 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. For example, knowing that one possesses a certain gene or gene sequence might suggest that one should seek a certain kind of treatment or genetic counseling or inform one’s blood relatives.
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 two-year NIH study recently produced a set of recommendations for biobanks and archived datasets, and concluded that 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 et al., 2012).
Population surveys that collect biologic specimens are now confronting similar issues, with the added difficulty 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, it may be years between when a respondent provided a specimen and when that specimen was accessed for research, or when the knowledge base progressed to the point where a meaningful, reportable result could be obtained from the data.
The National Center for Health Statistics and its Ethics Review Board have 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 an attempt to re-contact all previous respondents and obtain their consent (or not) to report back findings and also a revision of consent information for future respondents. The plan also considered
how and by whom decisions should be reached regarding how to handle actionable findings. However, the NCHS Board of Scientific Counselors recommended that NCHS delay implementing its plan, which could be costly and have unintended consequences stemming from participants’ reactions, until there had been further input from a wide range of perspectives through a workshop convened by the National Academies. NCHS instituted a moratorium on collecting genetic specimens in NHANES until the workshop was held and its discussions absorbed.
The purpose of this workshop was to consider how population surveys, such as the National Health and Nutrition Examination Survey and others, should (1) implement the reporting of results from genomic research using stored specimens; and (2) address informed consent for future data collection as well as for the use of banked specimens covered by prior informed consent agreements. The workshop afforded an opportunity to think about the return of genomic results within the context of population-based studies, which increasingly incorporate genomic measures in overall data collection. The workshop addressed the conjunction of scientific opportunity, questions about risk and benefit to research participants, and questions about what constitutes trustworthy research practice. (See Box 1-1 for the steering committee’s statement of task.)
The intent of the workshop was not to generate specific recommendations, but rather, to have a broad discussion that the NCHS could then draw from as it seeks to identify a clear path forward with respect to NHANES genomic data from both past and future participants. The immediate audience for this summary is the staff of the National Center for Health Statistics and its Ethics Review Board. The broader audience is all survey organizations that include or contemplate including the collection of biologic specimens in population surveys for storing for genetic research. The issues involved are important for advancing social, behavioral, and biomedical knowledge while appropriately respecting and protecting individual survey respondents.
A workshop titled “Guidelines for Returning Individual Results from Genome Research Using Population-Based Banked Specimens” took place at the National Academy of Sciences in Washington, DC, February 10-11, 2014. There were seven main sessions and a final session conducted by members of the steering committee and invited speakers.1 The workshop agenda can be found in Appendix A, and a list of workshop registrants can be found in Appendix B. Appendix C provides biographical sketches of steering committee members and presenters. Each of the following eight chapters (2 through 9) is dedicated to one of these workshop sessions.
1Slide presentations and related workshop materials can be found at http://sites.nationalacademies.org/DBASSE/CNSTAT/DBASSE_086008 [June 2014].
BOX 1-1 Steering Committee’s Statement of Task
An ad hoc steering committee will organize a public workshop on guidelines and best practices for returning individual results from genome research using population-based banked specimens. The workshop is 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 will address 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.
The steering committee will develop the agenda for the workshop, select and invite speakers and discussants, and moderate the discussion. Following the workshop, a designated rapporteur will prepare an individually authored summary of the presentations and discussion. Commissioned papers may be published with the summary or posted on the Internet. A verbatim transcript of the workshop presentations and discussions will also be prepared and provided to the sponsor and others who may request it.
This report was prepared by a rapporteur as a factual summary of what occurred at the workshop. The steering committee’s role was limited to planning and convening the workshop. The views contained in the report are those of individual workshop participants and do not necessarily represent the views of nonparticipants, other workshop participants, the steering committee, or the National Academies.