Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study

Joel E. Pacyna, Carmen Radecki Breitkopf, Sarah M. Jenkins, Erica J. Sutton, Caroline Horrow, Iftikhar Jan Kullo, Richard R Sharp

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalJournal of Medical Genetics
DOIs
StateAccepted/In press - Jan 1 2018

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Genetic Counseling
Health Literacy
National Institutes of Health (U.S.)
Genetic Testing
Self Efficacy
Decision Making
Logistic Models
Regression Analysis
Medicine
Conflict (Psychology)
Surveys and Questionnaires
Education

Keywords

  • ELSI
  • genetic counseling
  • genomic implementation
  • informed consent

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study",
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.",
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author = "Pacyna, {Joel E.} and {Radecki Breitkopf}, Carmen and Jenkins, {Sarah M.} and Sutton, {Erica J.} and Caroline Horrow and Kullo, {Iftikhar Jan} and Sharp, {Richard R}",
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AU - Kullo, Iftikhar Jan

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