The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study

Area of Science:

• Genetics
• Healthcare
• Consumer Genomics

Background:

• Direct-to-consumer (DTC) genetic testing services provide raw DNA data to consumers.
• Concerns exist regarding the downstream healthcare implications of consumer-interpreted genetic information.
• The increasing accessibility of raw DNA data necessitates an understanding of its impact on healthcare professionals.

Purpose of the Study:

• To investigate the extent to which genetic counselors are contacted by consumers using third-party DNA interpretation services.
• To describe the experiences of genetic counselors when interacting with these "consumer" patients.
• To evaluate genetic counselors' perspectives on the quality of information provided by third-party services.

Main Methods:

• A mixed-methods study combining online surveys and in-depth telephone interviews.
• 85 genetic counselors completed an online survey.
• 22 genetic counselors participated in follow-up telephone interviews, with data analyzed using triangulation.

Main Results:

• Over half (53%) of surveyed genetic counselors reported being contacted by patients who used third-party raw DNA interpretation services.
• Among contacted counselors, 72% provided clinical services to at least one such patient.
• Counselors reported challenges including patient overemphasis on data validity, resistance to provided information, and concerns about data/interpretation quality.

Conclusions:

• Genetic counselors face unique challenges when managing patients who have used direct-to-consumer DNA tests.
• The quality and clarity of information from third-party services are significant concerns for healthcare providers.
• Improved support for both consumers and genetic service providers is crucial for effective integration of genomic knowledge into population health.