Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings

Amanda L. Bergner, Juli Bollinger, Karen S. Raraigh, Crystal Tichnell, Brittney Murray, Carrie Lynn Blout, Aida Bytyci Telegrafi, Cynthia Anne James

Research output: Contribution to journalArticle

Abstract

Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease.

Original languageEnglish (US)
Pages (from-to)2745-2752
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number11
DOIs
StatePublished - Nov 1 2014

Fingerprint

Exome
Inborn Genetic Diseases
Incidental Findings
Informed Consent
Genetic Research
Privacy
Research
Confidentiality
Parents
Genome
Interviews
Technology
Population

Keywords

  • Exome sequencing
  • Genetic counseling
  • Genetic testing
  • Genome sequencing
  • Incidental findings
  • Informed consent

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Informed consent for exome sequencing research in families with genetic disease : The emerging issue of incidental findings. / Bergner, Amanda L.; Bollinger, Juli; Raraigh, Karen S.; Tichnell, Crystal; Murray, Brittney; Blout, Carrie Lynn; Telegrafi, Aida Bytyci; James, Cynthia Anne.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 11, 01.11.2014, p. 2745-2752.

Research output: Contribution to journalArticle

Bergner, Amanda L. ; Bollinger, Juli ; Raraigh, Karen S. ; Tichnell, Crystal ; Murray, Brittney ; Blout, Carrie Lynn ; Telegrafi, Aida Bytyci ; James, Cynthia Anne. / Informed consent for exome sequencing research in families with genetic disease : The emerging issue of incidental findings. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 11. pp. 2745-2752.
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