Patient experiences with clinical confirmatory genetic testing after using direct-to-consumer raw DNA and third-party...

Area of Science:

• Genetics
• Bioinformatics
• Consumer Health

Background:

• Direct-to-consumer (DTC) raw DNA testing offers genetic health risk information but can yield analytical false-positives.
• Limited understanding exists regarding individuals' experiences with DTC raw DNA interpretation, clinical confirmation, and potential genetic variant findings.

Purpose of the Study:

• To explore the lived experiences of individuals who underwent clinical confirmatory genetic testing after discovering potential pathogenic or likely pathogenic variants via raw DNA interpretation.
• To understand participants' perceptions of the confirmatory testing process and its associated challenges and benefits.

Main Methods:

• Qualitative study employing semi-structured interviews with 12 participants recruited via social media.
• Participants had raw DNA interpretation results, U.S.-based clinical confirmatory genetic testing, and provided documentation.
• Interview transcripts were analyzed using inductive coding to identify emergent themes.

Main Results:

• Nearly all participants (11/12) reported emotional distress and information-seeking behaviors post-raw DNA interpretation.
• A majority (9/12) faced challenges accessing knowledgeable healthcare providers and securing insurance for confirmatory testing.
• Only 3/12 participants had their raw DNA findings confirmed as pathogenic or likely pathogenic via clinical testing.

Conclusions:

• Individuals derive personal utility from raw DNA interpretation, despite potential inaccuracies and the emotional impact.
• There is a need for improved patient and healthcare provider education regarding DTC genetic testing and its implications.
• Despite concerns and challenges, a strong interest persists in utilizing DTC genetic interpretation services.