A closer look at the recommended criteria for disclosing genetic results

Perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs

Debra S. Brandt, Laura Shinkunas, Stephen L. Hillis, Sandra E. Daack-Hirsch, Martha Driessnack, Nancy R. Downing, Megan F. Liu, Lisa L. Shah, Janet K. Williams, Christian M. Simon

Research output: Contribution to journalArticle

22 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)544-553
Number of pages10
JournalJournal of Genetic Counseling
Volume22
Issue number4
DOIs
StatePublished - Aug 2013

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Incidental Findings
Research Ethics Committees
Medical Genetics
Research Personnel
Disclosure
Penetrance
Insurance Benefits
Age of Onset
Language
Nurses
Guidelines
Interviews

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)

Cite this

A closer look at the recommended criteria for disclosing genetic results : Perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs. / Brandt, Debra S.; Shinkunas, Laura; Hillis, Stephen L.; Daack-Hirsch, Sandra E.; Driessnack, Martha; Downing, Nancy R.; Liu, Megan F.; Shah, Lisa L.; Williams, Janet K.; Simon, Christian M.

In: Journal of Genetic Counseling, Vol. 22, No. 4, 08.2013, p. 544-553.

Research output: Contribution to journalArticle

Brandt, Debra S. ; Shinkunas, Laura ; Hillis, Stephen L. ; Daack-Hirsch, Sandra E. ; Driessnack, Martha ; Downing, Nancy R. ; Liu, Megan F. ; Shah, Lisa L. ; Williams, Janet K. ; Simon, Christian M. / A closer look at the recommended criteria for disclosing genetic results : Perspectives of medical genetic specialists, genomic researchers, and institutional review board chairs. In: Journal of Genetic Counseling. 2013 ; Vol. 22, No. 4. pp. 544-553.
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