Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.
MGH Institute of Health Professions, Boston, Massachusetts, USA.
J Genet Couns. 2022 Dec;31(6):1290-1305. doi: 10.1002/jgc4.1604. Epub 2022 Jul 7.
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.
遗传检测和遗传咨询通常适用于肥厚型心肌病（HCM）患者；然而，这些服务的接受程度和实用性尚不完全清楚。本系统评价和荟萃分析总结了 HCM 患者及其高危家庭成员接受遗传咨询和遗传检测的接受程度和实用性，以及遗传咨询/检测对患者报告的结局（PROs）的影响。通过 2021 年 3 月 12 日进行了系统检索。只要有可能，就进行了荟萃分析；其他发现则进行了定性总结。48 项研究符合纳入标准（47 项观察性研究，1 项随机研究）。先证者进行遗传检测的接受率为 57%（95%置信区间[CI]：40，73）。高危亲属的级联筛查接受情况如下：级联遗传检测的接受率为 61%（95% CI：45，75），心脏筛查（如超声心动图）的接受率为 58%（95% CI：40，73），以及两种方法（43，87）的接受率为 69%。此外，阳性遗传检测结果先证者的亲属进行级联筛查的可能性明显高于阴性结果先证者的亲属（比值比=3.17，95% CI：2.12，4.76）。总体而言，先证者和亲属接受遗传咨询的比例从 37%到 84%不等。多项研究发现，接受阳性和阴性遗传检测结果的个体之间的 PRO 差异不大；然而，其他研究发现，阳性遗传检测结果的个体经历了更差的心理结局。遗传检测还可以为生活选择提供信息，特别是与生殖和保险相关的决定。遗传咨询与高满意度、增加的个人控制感和赋权感以及降低的焦虑感相关。大约有一半到四分之三的 HCM 患者及其亲属接受了遗传检测或级联筛查。遗传检测后的 PROs 各不相同，遗传咨询与高满意度和改善的 PROs 相关。
