Genomic data, including findings incidental to the purpose for which a study is undertaken, can contain information of use and importance to research subjects related to their health, lifestyle, and reproductive choices. A growing consensus of expert groups is that at least some information from genomic studies should be available to participants. It seems clear that return of results from genomic studies should and will require the informed consent of research subjects. However, there are a number of challenging issues that must be addressed with regard to obtaining meaningful consent from subjects, including the content of the consent process, minimizing adverse consequences from an expanded consent process, special issues relating to biobanked samples, and considerations regarding children, decisional impaired persons, and deceased subjects.
The aims of this study are: 1) To develop a menu of potential approaches for dealing with the key challenges regarding informed consent that must be addressed before widespread efforts to return genomic data are put into place, based on an analytic review of the normative and empirical literatures;2) To obtain the perspectives of genomic investigators and research subjects on these issues, their suggestions for addressing them, and their thoughts about the menu options, in a series of semi- structured interviews and surveys;3) To formulate a series of discussion papers that outline the challenges, consider the options for response, offer recommendations for realistic approaches to address these challenges, and suggest a policy-relevant research agenda. To address the complex challenges of informed consent, the research team will use a combination of analytic and empirical strategies. Based on an analysis of the existing literature, we will develop menus of alternative approaches to consent in commonly occurring genomic research situations. The menus of options for these situations will then form the basis for semi-structured interviews and internet-based surveys of genomic researchers and research subjects to identify the probable advantages and disadvantages of the alternative approaches. Integrating these data into the previously developed analysis of alternatives, realistic options will be identified. When neither normative argument nor empirical evidence allows plausible conclusions to be drawn about the most desirable options, suggestions will be offered regarding further normative and empirical investigation. Findings will be embodied in a set of three discussion papers that will be reviewed by experts in genomic research and bioethics. After incorporating their feedback, the papers will be made available on the internet, submitted for publication in the medical and bioethical literatures, and presented at relevant professional meetings.

Public Health Relevance

Genomic data can contain information of use and importance to research subjects related to their health, lifestyle, and reproductive choices. Although there is a growing consensus that at least some information from genomic studies should be available to participants, there are a number of challenges to obtaining informed consent from research subjects for that purpose. This study is aimed at elucidating those challenges, identifying options for dealing with them, obtaining feedback from key stakeholders about those options, and formulating recommendations for the field as to how challenges to meaningful informed consent can be met.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Exploratory/Developmental Grants (R21)
Project #
1R21HG006596-01
Application #
8240260
Study Section
Special Emphasis Panel (ZHG1-ELSI-P (O1))
Program Officer
Mcewen, Jean
Project Start
2011-09-23
Project End
2013-08-31
Budget Start
2011-09-23
Budget End
2012-08-31
Support Year
1
Fiscal Year
2011
Total Cost
$200,000
Indirect Cost
Name
Columbia University (N.Y.)
Department
Psychiatry
Type
Schools of Medicine
DUNS #
621889815
City
New York
State
NY
Country
United States
Zip Code
10032
Spector-Bagdady, Kayte; Prince, Anya E R; Yu, Joon-Ho et al. (2018) Analysis of state laws on informed consent for clinical genetic testing in the era of genomic sequencing. Am J Med Genet C Semin Med Genet 178:81-88
Amendola, Laura M; Robinson, Jill O; Hart, Ragan et al. (2018) Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium. J Genet Couns 27:1220-1227
Wynn, Julia; Martinez, Josue; Bulafka, Jessica et al. (2018) Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. J Genet Couns 27:709-722
Amendola, Laura M; Jarvik, Gail P; Leo, Michael C et al. (2016) Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 99:247
Brothers, Kyle B; Holm, Ingrid A; Childerhose, Janet E et al. (2016) When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr 168:226-31.e1
Green, Robert C; Goddard, Katrina A B; Jarvik, Gail P et al. (2016) Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 98:1051-1066
Amendola, Laura M; Jarvik, Gail P; Leo, Michael C et al. (2016) Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 98:1067-1076
Amendola, Laura M; Lautenbach, Denise; Scollon, Sarah et al. (2015) Illustrative case studies in the return of exome and genome sequencing results. Per Med 12:283-295
Appelbaum, Paul S; Fyer, Abby; Klitzman, Robert L et al. (2015) Researchers' views on informed consent for return of secondary results in genomic research. Genet Med 17:644-50
Wynn, Julia; Martinez, Josue; Duong, Jimmy et al. (2015) Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research. J Genet Couns 24:833-41

Showing the most recent 10 out of 18 publications