Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting

Nancy R. Downing, Janet K. Williams, Sandra Daack-Hirsch, Martha Driessnack, Christian M. Simon

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Objective: Evidence documenting management of incidental findings (IFs) from clinical genomic testing is limited. The aim of this study was to examine genetics specialists' perspectives regarding current and preferred disclosure of clinical genomic IFs. Methods: 50 genetics specialists, including medical geneticists, laboratory professionals, genetic counselors, and nurses participated in structured telephone interviews. Data were analyzed using qualitative content analysis and descriptive statistics. Results: Most specialists had encountered IFs, but definitions of IFs varied. They discussed challenges with informing patients about the prospect of IFs and disclosing IFs to patients. Causing psychological harm to patients was a concern. Participants were divided on whether IFs needed to be clinically significant and/or actionable in order to be disclosed to patients. Creating formal disclosure guidelines was considered useful, but only if they were flexible. Additional counseling, more interdisciplinary communication, maintaining contact with patients, and a centralized database to interpret IFs were also proposed. Conclusion: Genetics specialists offer insights into the challenges of defining IFs, knowing when and how to disclose them, and the potential need for flexible disclosure guidelines. Practice implications: Further discussion between practicing genetics specialists is needed to develop consensus on the development of best-practice guidelines for IF management.

Original languageEnglish (US)
Pages (from-to)133-138
Number of pages6
JournalPatient Education and Counseling
Volume90
Issue number1
DOIs
StatePublished - Jan 2013
Externally publishedYes

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Incidental Findings
Disclosure
Practice Guidelines
Interdisciplinary Communication
Guidelines
Patient Harm
Counseling
Consensus
Nurses
Databases
Interviews
Psychology

Keywords

  • Clinical genetics
  • Disclosure
  • Genomics
  • Incidental findings

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting. / Downing, Nancy R.; Williams, Janet K.; Daack-Hirsch, Sandra; Driessnack, Martha; Simon, Christian M.

In: Patient Education and Counseling, Vol. 90, No. 1, 01.2013, p. 133-138.

Research output: Contribution to journalArticle

Downing, Nancy R. ; Williams, Janet K. ; Daack-Hirsch, Sandra ; Driessnack, Martha ; Simon, Christian M. / Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting. In: Patient Education and Counseling. 2013 ; Vol. 90, No. 1. pp. 133-138.
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