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

J Med Genet. 2019 May;56(5):317-324. doi: 10.1136/jmedgenet-2018-105577. Epub 2018 Dec 22.


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.

Keywords: ELSI; genetic counseling; genomic implementation; informed consent.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Decision Making
  • Female
  • Genetic Counseling*
  • Genetic Testing* / methods
  • Genomics* / methods
  • Health Care Surveys
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Middle Aged
  • Young Adult