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A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs

Abstract

Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders’ perspectives and be based on a common language.

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Acknowledgments

The study was supported by an (ARRA) grant from the National Human Genome Institute of the National Institutes of Health (NIH) (RC1HG005786). Support was also provided by Grant Number TR000443-06 (training support for DB) from the National Center for Advancing Translational Sciences and the National Institutes of Health (NIH). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The authors thank the American College of Medical Genetics, the National Society of Genetic Counselors, the International Society of Nurses in Genetics, and the Heartland Regional Genetics & Newborn Screening Collaborative for assistance in recruitment. The authors would also like to thank the University of Northern Iowa Center for Social and Behavioral Research for collaboration on interview guide development, and data collection.

Conflict of interest

None of the authors has a conflict of interest. We have full control of all primary data, and we agree to allow the journal to review the data if requested.

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Correspondence to Janet K. Williams.

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Brandt, D.S., Shinkunas, L., Hillis, S.L. et al. A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs. J Genet Counsel 22, 544–553 (2013). https://doi.org/10.1007/s10897-013-9583-5

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Keywords

  • Incidental findings
  • Institutional review board
  • Human genome
  • Genetic research
  • Biomedical ethics
  • Genetic testing