Weill Cornell Medicine, New York, New York.
Clin Obstet Gynecol. 2024 Dec 1;67(4):702-710. doi: 10.1097/GRF.0000000000000895. Epub 2024 Oct 18.
This is a systematic review and meta-analysis evaluating the uptake of cascade genetic testing for hereditary breast and ovarian cancer syndrome. Among 30 studies included for meta-analysis, the uptake of cascade genetic testing was 33% (95% CI 25%-42%), with higher uptake rates among females compared with male relatives, and among first-degree compared with second-degree relatives. These findings indicate suboptimal uptake of cascade genetic testing among people at risk for hereditary breast and ovarian cancer syndrome, representing a missed opportunity for cancer prevention and early detection. There is a need for interventions to improve uptake rates.
这是一项系统性回顾和荟萃分析，评估遗传性乳腺癌和卵巢癌综合征的级联基因检测的应用情况。在纳入荟萃分析的 30 项研究中，级联基因检测的应用率为 33%（95%CI：25%-42%），女性的检测率高于男性亲属，一级亲属的检测率高于二级亲属。这些发现表明，遗传性乳腺癌和卵巢癌综合征高危人群的级联基因检测应用率不理想，这是一个错失的癌症预防和早期发现机会。需要采取干预措施来提高检测率。
