Affiliation:
1. Family Cancer Clinic Netherlands Cancer Institute ‐ Antoni van Leeuwenhoek Hospital Amsterdam The Netherlands
2. Department of Psychosocial Research and Epidemiology Netherlands Cancer Institute ‐ Antoni van Leeuwenhoek Hospital Amsterdam The Netherlands
Abstract
AbstractThe uptake of genetic counseling and predictive genetic testing by family members at risk for hereditary tumor syndromes is generally below 50%. To address this issue, a new guideline was introduced in the Netherlands in 2019 that aims to improve the sharing of information within families. In addition to cascade screening supported by follow‐up telephone calls with the proband, municipal records were accessed to allow the geneticist to contact at‐risk family members directly. We evaluated this procedure in 32 families with a (likely) pathogenic germline BRCA1/BRCA2 variant diagnosed at our hospital between May 1, 2020, and July 31, 2021, comparing current uptake with outcomes achieved for 33 families diagnosed in 2014. Fifteen months after diagnostic testing of the proband, the uptake was 43% (120/277), comparable to the 44% (87/200) registered previously. Among a subgroup of women at 50% risk aged 25–75 years, 71% (47/66) were tested, comparable to an earlier uptake of 69% (59/86). Of the 34 at‐risk relatives we contacted directly, 17 (50%) underwent predictive testing. In conclusion, we found no evidence that the new procedure leads to a substantially increased uptake. Future research should be primarily aimed at understanding intrafamilial communication barriers.
Cited by
8 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献