Sharing genetic test results of germline pathogenic variants of hereditary cancer with relatives: A single-center cross-sectional study

Objective This study aimed to determine whether Japanese cancer patients share test results of germline pathogenic variants of hereditary cancer with their relatives. Methods This single-center cross-sectional study enrolled 21 Japanese patients who received results of germline pathogenic variants o...

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Published in:Japanese journal of clinical oncology 2021-10, Vol.51 (10), p.1547-1553
Main Authors: Fukuzaki, Naomi, Kiyozumi, Yoshimi, Higashigawa, Satomi, Horiuchi, Yasue, Mizuguchi, Maki, Matsubayashi, Hiroyuki, Nishimura, Seiichiro, Mori, Keita, Notsu, Akifumi, Suishu, Izumi, Ohnami, Sumiko, Kusuhara, Masatoshi, Yamaguchi, Ken, Doorenbos, Ardith Z, Takeda, Yuko
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Language:English
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Summary:Objective This study aimed to determine whether Japanese cancer patients share test results of germline pathogenic variants of hereditary cancer with their relatives. Methods This single-center cross-sectional study enrolled 21 Japanese patients who received results of germline pathogenic variants of hereditary cancer at least 6 months prior. Results All patients shared their test results with at least one relative, with the following sharing rates: 85.7% for first-degree relatives, 10% for second-degree relatives and 8.3% for third-degree relatives. Patients most commonly shared the information with their children aged >18 years (86.7%), followed by their siblings (73.6%), spouses (64.7%) and parents (54.5%). Three categories were extracted from qualitative analysis: ‘characteristics of my cancer’, ‘knowledge and caution about inheritability’ and ‘utilization of medical care.’ Conclusions The rate of test result sharing with first-degree relatives was comparable with those in Europe and the USA. Patients with germline pathogenic variants also tended to share their test results more with their children and siblings than with their parents. Informing their relatives of the results was suggestive of the motivation to influence their relatives’ health outcome and contribute to the well-being of their children and siblings. Japanese patients with germline pathogenic variants of hereditary cancers disclosed their test results to at least one relative, mostly first-degree relatives, including the patients’ adult children, siblings, spouses and parents.
ISSN:1465-3621
0368-2811
1465-3621
DOI:10.1093/jjco/hyab110