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

Autor: Cirino AL; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.; MGH Institute of Health Professions, Boston, Massachusetts, USA., Harris SL; Cardiovascular Genetics Program, Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts, USA., Murad AM; Division of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Hansen B; Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Malinowski J; Write Inscite, South Salem, New York, USA., Natoli JL; Kaiser Permanente, Southern California Permanente Medical Group, Pasadena, California, USA., Kelly MA; Geisinger, Genomic Medicine Institute, Danville, Pennsylvania, USA., Christian S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Jazyk: angličtina
Zdroj: Journal of genetic counseling [J Genet Couns] 2022 Dec; Vol. 31 (6), pp. 1290-1305. Date of Electronic Publication: 2022 Jul 07.
DOI: 10.1002/jgc4.1604
Abstrakt: Genetic 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.
(© 2022 National Society of Genetic Counselors.)
Databáze: MEDLINE