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Genome-wide Association Studies-GWAS01:11

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Related Experiment Video

Updated: May 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Exploring individuals' experiences with self-reported unmet need for genetic testing.

Kennedy Borle1, Larry D Lynd2, Jehannine Austin3

  • 1Interdisciplinary Studies Program, Faculty of Graduate and Postdoctoral Studies, University of British Columbia, Vancouver, BC, Canada.

European Journal of Human Genetics : EJHG
|March 28, 2025
PubMed
Summary

Public understanding of genetic testing need is complex, driven by clinical and personal utility. Many individuals have unmet needs for genetic counseling, even if ineligible for funded testing, impacting medical trust.

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Area of Science:

  • Genetics
  • Medical Sociology
  • Bioethics

Background:

  • Healthcare systems define the need for genetic testing based on clinical utility.
  • Public perception of the need for genetic testing and its alignment with clinical utility is not well understood.

Purpose of the Study:

  • To explore the public's understanding of the need for genetic testing.
  • To investigate if public understanding aligns with clinical utility criteria used by healthcare systems.

Main Methods:

  • A survey was distributed to participants in Canada via a market research company.
  • Purposive sampling selected participants who self-reported a need for genetic testing for semi-structured virtual interviews.
  • Interpretive description and reflexive thematic analysis were employed.

Main Results:

  • Participants' perceived need for genetic testing was influenced by perceived clinical utility and personal meaning.
  • Most participants did not meet eligibility criteria for funded testing based on personal/family history.
  • Unmet informational and psychological needs were identified, suggesting a need for genetic counseling.

Conclusions:

  • Public understanding of the need for genetic testing is multifaceted, encompassing both clinical and personal utility.
  • Discrepancies between public expectations and reimbursement criteria for genetic testing can lead to medical distrust and dissatisfaction.
  • There is a significant unmet need for genetic counseling services among the public.