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Last Posted: Dec 12, 2022
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The PrU: development and validation of a measure to assess personal utility of genomic results
E Turbitt et al, Genetics in Medicine, December 12, 2022

We used an evidence-based, operational definition of personal utility, with data from a systematic literature review and Delphi survey to build a novel scale. Following piloting with 24 adults, the PrU was administered to healthy adults in a Clinical Sequencing Evidence-Generating Research Consortium (CSER) study after receiving results. We investigated responses using exploratory factor analysis.

A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website.
Lowes Kiara et al. European journal of human genetics : EJHG 2022 10

Using interpretive description, we developed a theoretical model describing the experience of receiving PRSs in a direct-to-consumer (DTC) context. Dissatisfaction with healthcare was an important motivator for seeking PRS information. Participants described having medical concerns dismissed and experiencing medical distrust, which drove them to self-advocate for their health, which ultimately led them to seek PRSs. Polygenic risk scores were often empowering for participants but could be distressing when PRS information did not align with participants' perceptions of their personal or family histories.

Direct-to-consumer genetic testing in the news: a descriptive analysis.
Basch Corey H et al. Journal of community genetics 2022 10

Only 10.0% of online news articles mentioned testing confidentiality and privacy protection. Articles that mentioned?>?5 commercial DTC DNA products more often discussed how DTC DNA testing provides personalized information about health and link to family disease risk and other traits (85.7% vs. 61.1%, p?=?0.02), can lead to the location of family members or ancestors (78.6% vs. 55.63%, p?=?0.03), and that the testing results housed in DNA databases can be utilized by law enforcement to track suspects or their relatives.

Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns
MF Martins et al, EJHG, October 12, 2022

Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals’ knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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