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Original article
Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study
  1. Joel E Pacyna1,
  2. Carmen Radecki Breitkopf2,
  3. Sarah M Jenkins3,
  4. Erica J Sutton1,
  5. Caroline Horrow1,
  6. Iftikhar J Kullo4,
  7. Richard R Sharp1,2
  1. 1Biomedical Ethics Research Program, Mayo Clinic, Rochester, Minnesota, USA
  2. 2Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
  3. 3Division of Biostatistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA
  4. 4Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA
  1. Correspondence to Dr Richard R Sharp, Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN 55905, USA; Sharp.Richard{at}mayo.edu

Abstract

Purpose We assessed the decision-making of individuals pursuing genomic sequencing without a requirement for pretest genetic counselling. We sought to describe the extent to which individuals who decline genetic counselling reported decisional conflict or struggled to make a decision to pursue genomic testing.

Methods We administered a 100-item survey to 3037 individuals who consented to the Return of Actionable Variants Empirical study, a genomic medicine implementation study supported by the National Institutes of Health (USA) eMERGE consortium. The primary outcomes of interest were self-reported decisional conflict about the decision to participate in the study and time required to reach a decision.

Results We received 2895 completed surveys (response rate=95.3%), and of these respondents 97.8% completed the decisional conflict scale in its entirety. A majority of individuals (63%) had minimal or no decisional conflict about the pursuit of genomic sequencing and were able to reach a decision quickly (78%). Multivariable logistic regression analyses identified several characteristics associated with decisional conflict, including lower education, lower health literacy, lower self-efficacy in coping, lack of prior experience with genetic testing, not discussing study participation with a family member or friend, and being male.

Conclusion As genomic sequencing is used more widely, genetic counselling resources may not be sufficient to meet demand. Our results challenge the notion that all individuals need genetic counselling in order to make an informed decision about genomic sequencing.

  • genetic counseling
  • informed consent
  • genomic implementation
  • ELSI

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Footnotes

  • Patient consent for publication Obtained.

  • Contributors IJK and RRS acquired funding for the study. JEP, CRB, EJS, IJK and RRS contributed to the design of the study. RRS provided overall supervision to the study procedures reported in this paper. JEP, CRB, SMJ, CH and RRS contributed to the analysis. JEP completed the first draft of the manuscript and all authors critically revised the manuscript to produce the final paper.

  • Funding This study was supported by a grant from the National Institutes of Health, USA (U01 HG006379) and by the Mayo Clinic Center for Individualized Medicine.

  • Competing interests None declared.

  • Ethics approval Mayo Clinic Institutional Review Board.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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