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The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy—A systematic review and meta-analysis

dc.contributor.authorCirino, Allison L.
dc.contributor.authorHarris, Stephanie L.
dc.contributor.authorMurad, Andrea M.
dc.contributor.authorHansen, Brittany
dc.contributor.authorMalinowski, Jennifer
dc.contributor.authorNatoli, Jaime L.
dc.contributor.authorKelly, Melissa A.
dc.contributor.authorChristian, Susan
dc.date.accessioned2023-01-11T16:22:05Z
dc.date.available2024-01-11 11:22:04en
dc.date.available2023-01-11T16:22:05Z
dc.date.issued2022-12
dc.identifier.citationCirino, Allison L.; Harris, Stephanie L.; Murad, Andrea M.; Hansen, Brittany; Malinowski, Jennifer; Natoli, Jaime L.; Kelly, Melissa A.; Christian, Susan (2022). "The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy—A systematic review and meta-analysis." Journal of Genetic Counseling (6): 1290-1305.
dc.identifier.issn1059-7700
dc.identifier.issn1573-3599
dc.identifier.urihttps://hdl.handle.net/2027.42/175405
dc.description.abstractGenetic testing and genetic counseling are routinely indicated for patients with hypertrophic cardiomyopathy (HCM); however, the uptake and utility of these services is not entirely understood. This systematic review and meta-analysis summarizes the uptake and utility of genetic counseling and genetic testing for patients with HCM and their at-risk family members, as well as the impact of genetic counseling/testing on patient-reported outcomes (PROs). A systematic search was performed through March 12, 2021. Meta-analyses were performed whenever possible; other findings were qualitatively summarized. Forty-eight studies met inclusion criteria (47 observational, 1 randomized). Uptake of genetic testing in probands was 57% (95% confidence interval [CI]: 40, 73). Uptake of cascade screening for at-risk relatives were as follows: 61% for cascade genetic testing (95% CI: 45, 75), 58% for cardiac screening (e.g. echocardiography) (95% CI: 40, 73), and 69% for either/both approaches (95% CI: 43, 87). In addition, relatives of probands with a positive genetic test result were significantly more likely to undergo cascade screening compared to relatives of probands with a negative result (odds ratio = 3.17, 95% CI: 2.12, 4.76). Overall, uptake of genetic counseling in both probands and relatives ranged from 37% to 84%. Multiple studies found little difference in PROs between individuals receiving positive versus negative genetic test results; however, other studies found that individuals with positive genetic test results experienced worse psychological outcomes. Genetic testing may also inform life choices, particularly decisions related to reproduction and insurance. Genetic counseling was associated with high satisfaction, increased perceived personal control and empowerment, and decreased anxiety. Approximately half to three-quarters of patients with HCM and their relatives undergo genetic testing or cascade screening. PROs after genetic testing varied and genetic counseling was associated with high satisfaction and improved PROs.
dc.publisherR Foundation for Statistical Computing
dc.publisherWiley Periodicals, Inc.
dc.subject.othersystematic review
dc.subject.otherutility
dc.subject.othergenetic counseling
dc.subject.othercascade testing
dc.subject.othergenetic testing
dc.subject.otherhypertrophic cardiomyopathy
dc.subject.otherpredictive genetic testing
dc.titleThe uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy—A systematic review and meta-analysis
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/175405/1/jgc41604_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/175405/2/jgc41604.pdf
dc.identifier.doi10.1002/jgc4.1604
dc.identifier.sourceJournal of Genetic Counseling
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dc.identifier.citedreferenceKo, C., Arscott, P., Concannon, M., Saberi, S., Day, S. M., Yashar, B. M., & Helms, A. S. ( 2018 ). Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. Genetics in Medicine, 20 ( 1 ), 69 – 75. https://doi.org/10.1038/gim.2017.79
dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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