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Updated: Dec 13, 2025

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Direct-to-Consumer Genetic Testing: Value and Risk.

Mary A Majumder1, Christi J Guerrini1, Amy L McGuire1

  • 1Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas 77030, USA; email: majumder@bcm.edu, guerrini@bcm.edu, amcguire@bcm.edu.

Annual Review of Medicine
|August 1, 2020
PubMed
Summary
This summary is machine-generated.

Direct-to-consumer (DTC) genetic testing continues to raise quality, privacy, and integration concerns within healthcare. Future DTC genetic testing may merge with traditional care or remain a parallel system, each with unique risks and benefits.

Keywords:
ethicsgeneticspolicyprivacyregulation

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Area of Science:

  • Genetics
  • Bioethics
  • Health Services Research

Background:

  • Direct-to-consumer (DTC) genetic testing has seen significant growth, with many individuals accessing services independently of healthcare providers.
  • Industry expansion includes broader gene coverage and increased access through employer partnerships.
  • Concerns persist regarding the quality, psychosocial effects, and integration of DTC genetic testing into medical practice and the broader healthcare system.

Purpose of the Study:

  • To review current and emerging concerns associated with DTC genetic testing.
  • To examine the potential impacts on patients, healthcare providers, and the healthcare system.
  • To explore future trajectories for DTC genetic testing in relation to conventional healthcare.

Main Methods:

  • This study is a review of existing literature and industry trends.
  • It synthesizes information on quality, psychosocial impact, privacy, and system integration.
  • Emerging issues like third-party interpretation and genetic genealogy are also considered.

Main Results:

  • Continuing concerns include genetic testing quality, patient psychosocial responses, and seamless integration into clinical workflows.
  • Emerging issues involve third-party genetic data interpretation services and the use of genetic testing for non-health purposes like ancestry.
  • The future landscape presents two main scenarios: integration with traditional healthcare or a parallel, patient-driven information system.

Conclusions:

  • DTC genetic testing presents ongoing challenges and evolving considerations for healthcare.
  • The future of DTC genetic testing involves significant questions about its value and associated risks, whether integrated or parallel to existing healthcare.
  • Careful evaluation is needed to navigate the complexities of patient-driven genetic information within the healthcare ecosystem.