Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

Bookman, Ebony; Langehorne, Aleisha A.; Eckfeldt, John H.; Glass, Kathleen Cranley; Jarvik, Gail P.; Klag, Michael J.; Koski, Greg; Motulsky, Arno G.; Wilfond, Benjamin S.; Manolio, Teri A.; Fabsitz, Richard R.; Luepker, Russell V.

doi:10.1002/ajmg.a.31195

Cited by 192 publications

(229 citation statements)

References 33 publications

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“…Guidelines suggest that at a minimum, investigators have an obligation to return medically actionable research findings. 10,11 Some consensus is emerging on an obligation of investigators, both moral and legal, to return certain 'incidental findings' , those that may not relate to the primary research pursuit. 12 Increasingly, the academic debate about these findings acknowledges that WGS blurs the distinction between primary and secondary variants, as all genomes harbor unknown or unexpected findings, challenging the notion of 'incidental' .…”

Section: Introductionmentioning

confidence: 99%

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

et al. 2012

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Genome sequencing has been rapidly integrated into clinical research and is currently marketed to health-care practitioners and consumers alike. The volume of sequencing data generated for a single individual and the wide range of findings from wholegenome sequencing raise critical questions about the return of results and their potential value for end-users. We conducted a mixed-methods study of 311 sequential participants in the NIH ClinSeq study to assess general preferences and specific attitudes toward learning results. We tested how these variables predicted intentions to receive results within four categories of findings ranging from medically actionable to variants of unknown significance. Two hundred and ninety-four participants indicated a preference to learn their genome sequencing results. Most often, participants cited disease prevention as their reason, including intention to change their lifestyle behaviors. Participants held positive attitudes, strongly perceived social norms and strong intentions to learn results, although there were significant mean differences among four categories of findings (Po0.01). Attitudes and social norms for medically actionable and carrier results were most similar and rated the highest. Participants distinguished among the types and quality of information they may receive, despite strong intentions to learn all results presented. These intentions were motivated by confidence in their ability to use the information to prevent future disease and a belief in the value of even uninterpretable information. It behooves investigators to facilitate participants' desire to learn a range of information from genomic sequencing while promoting realistic expectations for its clinical and personal utility.

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Section: Introductionmentioning

confidence: 99%

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

et al. 2012

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“…We have compiled a set of suggestions for future researchers based on our own experience of returning results to research participants. Our consensus suggestions are designed to be used to supplement guidelines that are currently available (Botkin et al 2010;Fabsitz et al 2010;Bookman et al 2006;Dressler 2009). We have also described the disclosure protocols used by registries in order to increase the information available to research consortia managing clinically relevant genetic results on participants.…”

Section: Discussionmentioning

confidence: 99%

“…While there are some agreed upon ethical principles for the return of genetic results in epidemiological research studies (Bookman et al 2006;Roberts et al 2010;Dressler 2009), there is little practical information to guide researchers on implementing these principles. Kollek and Petersen (2011) have presented a series of challenges to be addressed in order to return individual research results to participants.…”

Section: Introductionmentioning

confidence: 99%

How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

et al. 2013

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There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice. Across 5 of the 6 registry sites, 1,634 participants in families with mismatch repair or MutYH gene muta- Genet (2014) 5:99-108 DOI 10.1007 effort to return results. We offer suggestions in five key areas: (1) planning for the disclosure process, (2) participant information, (3) autonomy of participants, (4) monitoring scientific progress, and (5) involvement of stakeholders. Despite increasing discussion of the importance of returning incidental findings from genetic research, this paper highlights the considerable diversity, challenges, and costs faced in practice when returning expected findings with established utility and validity. We argue that more work is needed to ensure that genetic results in research are optimally managed.

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“…If potentially deleterious genes are discovered and validated, subjects might also be informed whether specific counseling is available. Guidance is available on when to report genetic results (22). Special consenting considerations may be required for potential research participants who are minors because they lack full decision-making capacity, and some authorities believe that minors should not be tested for mutations that are not actionable until adulthood.…”

Section: Irb Chair or Designeementioning

confidence: 99%

2013 HIPAA Changes Provide Opportunities and Challenges for Researchers: Perspectives from a Cancer Center

Freedman

Cantor

Merriman

et al. 2016

Clinical Cancer Research

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In 2013, the U.S. Department of Health and Human Services modified the Health Insurance Portability and Accountability Act Privacy Rule to "strengthen privacy and security protections" while "improving workability and effectiveness to increase flexibility for and decrease burden on regulated entities." In this article, we attempt to translate these generalized goals into the real-world implications of these changes. Under the new rules, researchers can obtain participants' permission to use their protected health information for more research activities with a single, upfront authorization (thereby reducing paperwork for participants, researchers, and institutional review boards) while providing potential participants with more information upon which to base their decisions about participation. The combined authorizations can be used in clinical trials and their optional substudies and in stand-alone biospecimen-banking research that includes authorization to permit future research use. We also suggest best practices for taking advantage of the flexibility offered by the new rules while maintaining strong privacy protections for human subjects. Clin Cancer Res; 22(3); 533-9. Ó2016 AACR. Disclosure of Potential Conflicts of InterestNo potential conflicts of interest were disclosed. Editor's DisclosuresThe following editor(s) reported relevant financial relationships: J.L. Abbruzzese is a consultant/advisory board member for Celgene and Halozyme. CME Staff Planners' DisclosuresThe members of the planning committee have no real or apparent conflicts of interests to disclose. Learning ObjectivesUpon completion of this activity, the participant should have a better understanding of recent changes to the Health Insurance Portability and Accountability Act regulations and how researchers could potentially benefit from their application. The participant should also have a better understanding of institutional review board processes related to protected health information and certain best practices for privacy protection involving biospecimens maintained in biodata repositories and data from tumor registries utilized in research.

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Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

Cited by 192 publications

References 33 publications

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

2013 HIPAA Changes Provide Opportunities and Challenges for Researchers: Perspectives from a Cancer Center

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