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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Health actions after direct-to-consumer genetic testing for medically actionable conditions.

Amy C Sturm1,2, Stacey Detweiler1, Jessica Bielenberg1

  • 123andMe Research Institute, Palo Alto, CA.

Genetics in Medicine Open
|May 28, 2026
PubMed
Summary
This summary is machine-generated.

Direct-to-consumer genetic testing (DTC-GT) reveals medically actionable health risks. Individuals shared DTC-GT results with healthcare professionals (HCPs) and followed their recommendations, indicating high adherence to health actions.

Keywords:
Consumer geneticsGenetic screeningGenomic medicinePreventive health

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Area of Science:

  • Genetics and Genomics
  • Personalized Medicine
  • Public Health

Background:

  • Direct-to-consumer genetic testing (DTC-GT) provides insights into medically actionable health conditions.
  • Millions have utilized DTC-GT, prompting investigation into subsequent health behaviors.
  • Understanding health actions post-DTC-GT is crucial for risk management.

Purpose of the Study:

  • To determine if individuals with DTC-GT results for cancer and cardiovascular conditions take health actions.
  • To assess the extent of result sharing with healthcare professionals (HCPs).
  • To evaluate adherence to medical recommendations following DTC-GT results.

Main Methods:

  • A retrospective survey study was conducted with 23andMe research participants.
  • Participants had positive results for variants in BRCA1, BRCA2, APOB, LDLR, HFE, TTR, or MUTYH.
  • Outcomes included result sharing with HCPs and adherence to medical recommendations.

Main Results:

  • 46.1% of DTC-GT results were shared with HCPs, highest for BRCA1/BRCA2 (73.3%).
  • Among those sharing results, 86.0% received medical recommendations.
  • High adherence (87.5%) to HCP recommendations was observed.

Conclusions:

  • Many individuals receiving DTC-GT results were unaware of their genetic health risks.
  • Sharing DTC-GT results with HCPs leads to actionable medical advice.
  • High adherence to recommendations highlights the utility of DTC-GT in guiding health actions.