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Consumer use and response to online third-party raw DNA interpretation services
Catharine Wang1, Tiernan J Cahill2, Andrew Parlato2
1Department of Community Health Sciences, School of Public Health, Boston University, Boston, MA, USA.
Consumers use third-party services to interpret direct-to-consumer (DTC) raw DNA data for genealogy and health. Despite high satisfaction, understanding these genetic test results presents challenges, often requiring clinical interpretation.
Area of Science:
- Genetics
- Bioinformatics
- Consumer Health
Background:
- Direct-to-consumer (DTC) genetic testing generates raw DNA data.
- A growing number of third-party services offer interpretation of this raw DNA data.
- These services cater to both genealogical and health-related inquiries.
Purpose of the Study:
- To examine the current landscape of third-party raw DNA interpretation services.
- To investigate the downstream clinical implications of consumer use of these services.
Main Methods:
- Online recruitment via social media platforms.
- Survey distributed to 321 respondents who used third-party services for raw DNA interpretation.
Main Results:
- Participants used third-party services primarily for ancestral (67%) and health (62%) information.
- Seven companies dominated interpretation, with 73% using multiple services.
- Sharing results with medical providers led to varied outcomes, from dismissal to genetic condition diagnoses.
- High satisfaction (4.54/5) was reported, but understanding interpretation results remained a challenge.
Conclusions:
- Consumers encounter difficulties in comprehending raw DNA interpretation results.
- There is a need for clinical assistance in interpreting results from third-party services.
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