Patient experiences with clinical confirmatory genetic testing after using direct-to-consumer raw DNA and third-party genetic interpretation services
dc.contributor.author
Nguyen Dolphyn, Tiffany T.
dc.contributor.author
Ormond, Kelly
dc.contributor.author
Weissman, Scott M.
dc.contributor.author
Kim, Helen J.
dc.contributor.author
Reuter, Chloe M.
dc.date.accessioned
2023-03-14T15:47:35Z
dc.date.available
2022-11-17T05:26:11Z
dc.date.available
2022-11-22T11:25:06Z
dc.date.available
2022-11-22T15:29:29Z
dc.date.available
2023-03-14T15:47:35Z
dc.date.issued
2023-02
dc.identifier.issn
1613-9860
dc.identifier.issn
1869-6716
dc.identifier.other
10.1093/tbm/ibac083
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/581255
dc.description.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.
en_US
dc.description.abstract
This qualitative study describes the experiences of individuals who pursued clinical confirmatory genetic testing after obtaining raw DNA data from direct-to-consumer genetic testing and discovering a potential disease-causing variant from an online genetic interpretation tool.
en_US
dc.description.abstract
The availability of raw DNA and genetic interpretation tools allow individuals to access genetic health risk information, where analytical false-positives exist. Little is known about the experience of individuals who receive pathogenic or likely pathogenic variant(s) through raw DNA interpretation and follow-up with clinical confirmatory genetic testing. This qualitative study set out to describe the experiences of individuals who pursued clinical confirmatory genetic testing, including their perception of the process. Participants were recruited from social media and eligible if they discovered a potential pathogenic or likely pathogenic variant in a raw DNA interpretation report, completed clinical confirmatory genetic testing in the U.S., and provided documentation of those results. Individuals participated in semi-structured interviews, which were transcribed and inductively coded to identify themes. Of the 12 participants, 3 received clinical genetic testing results that confirmed pathogenic or likely pathogenic variants noted in raw DNA interpretation reports (confirmation positive), and 9 were not confirmed. Nearly all (n = 11) participants described emotional distress and information-seeking behavior as a coping mechanism after discovering a pathogenic or likely pathogenic variant in raw DNA interpretation. When pursuing confirmatory genetic testing, many (n = 9) 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 (n = 10) 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.
en_US
dc.language.iso
en
en_US
dc.publisher
Oxford University Press
en_US
dc.subject
Raw DNA
en_US
dc.subject
Third-party interpretation
en_US
dc.subject
Direct-to-consumer
en_US
dc.subject
Genetic testing
en_US
dc.subject
Precision medicine
en_US
dc.subject
Personal utility
en_US
dc.title
Patient experiences with clinical confirmatory genetic testing after using direct-to-consumer raw DNA and third-party genetic interpretation services
en_US
dc.type
Journal Article
dc.date.published
2022-11-03
ethz.journal.title
Translational Behavioral Medicine
ethz.journal.volume
13
en_US
ethz.journal.issue
2
en_US
ethz.journal.abbreviated
Transl Behav Med
ethz.pages.start
104
en_US
ethz.pages.end
114
en_US
ethz.identifier.wos
ethz.identifier.scopus
ethz.publication.place
Oxford
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02070 - Dep. Gesundheitswiss. und Technologie / Dep. of Health Sciences and Technology::02540 - Institut für Translationale Medizin / Institute of Translational Medicine::09614 - Vayena, Eftychia / Vayena, Eftychia
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02070 - Dep. Gesundheitswiss. und Technologie / Dep. of Health Sciences and Technology::02540 - Institut für Translationale Medizin / Institute of Translational Medicine::09614 - Vayena, Eftychia / Vayena, Eftychia
ethz.date.deposited
2022-11-17T05:26:15Z
ethz.source
WOS
ethz.eth
yes
en_US
ethz.availability
Metadata only
en_US
ethz.rosetta.installDate
2023-03-14T15:47:36Z
ethz.rosetta.lastUpdated
2024-02-02T21:00:27Z
ethz.rosetta.versionExported
true
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Journal Article [133684]