학술논문

Investigation of secondary findings extracted from comprehensive genome profiling tests: a single-center retrospective observational study / 包括的がんゲノムプロファイリング検査で抽出される二次的所見に関する実態調査―単施設の遡及的観察研究―
Document Type
Journal Article
Source
遺伝性腫瘍 / Journal of Hereditary Tumors. 2022, 22(2):36
Subject
comprehensive genome profiling testing
genetic counseling
genetic testing
hereditary cancer
secondary findings
がんゲノムプロファイリング検査
二次的所見
遺伝カウンセリング
遺伝学的検査
遺伝性腫瘍
Language
Japanese
ISSN
2435-6808
Abstract
In recent years, advances in personalized cancer care and the widespread use of next-generation sequencing have facilitated comprehensive genome profiling (CGP) for patients with advanced solid tumors. Secondary findings (SFs) of CGP include the determination of a certain frequency of important germline variants, such as genes responsible for hereditary tumors, which can be used for cancer risk prediction and patient and family surveillance. This information is essential to predict personal and/or familial hereditary cancer risk, and should be appropriately linked to surveillance and treatments. In this report, we examined how SFs from CGP are detected and disclosed at our hospital and the status of visits to the Genetics Outpatient Clinic.