Patient experiences with clinical confirmatory genetic testing after using direct-to-consumer raw DNA and third-party genetic interpretation services
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Date
2023-02
Publication Type
Journal Article
ETH Bibliography
yes
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Abstract
Lay Summary The availability of raw DNA data and online genetic interpretation tools allow individuals to access genetic health risk information, where false-positive results exist. Little is known about the experience of individuals who discover disease-causing variant(s) through raw DNA interpretation and follow-up with medical-grade confirmatory genetic testing. This qualitative study describes the experiences of individuals who pursued medical-grade confirmatory genetic testing in the U.S. after they discovered a potential disease-causing variant in a raw DNA interpretation report. Individuals participated in semi-structured interviews, which were transcribed and inductively coded to identify themes. Of the 12 participants, 3 received medical-grade genetic testing results that confirmed disease-causing variants noted in raw DNA interpretation reports, and 9 were not confirmed. Nearly all participants described emotional distress and information-seeking behavior after discovering a disease-causing variant in raw DNA interpretation. When pursuing confirmatory genetic testing, many faced challenges with finding knowledgeable healthcare providers and obtaining insurance coverage. Despite reporting concerns over raw DNA interpretation and a desire for more safeguards, almost all participants stated interest in using the service again. Overall, participants' experiences reveal they find personal utility in raw DNA interpretation results and provide insight into opportunities for patient and provider education.
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Publication status
published
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Book title
Journal / series
Volume
13 (2)
Pages / Article No.
104 - 114
Publisher
Oxford University Press
Event
Edition / version
Methods
Software
Geographic location
Date collected
Date created
Subject
Raw DNA; Third-party interpretation; Direct-to-consumer; Genetic testing; Precision medicine; Personal utility
Organisational unit
09614 - Vayena, Eftychia / Vayena, Eftychia