Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan

IF 1.3 4区 医学 Q3 PEDIATRICS
Kana Hiromoto, Takahiro Yamada, Mio Tsuchiya, Hiroshi Kawame, Eiji Nanba, Yuichi Goto, Shinji Kosugi
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Abstract

In Japan, a limited number of laboratories perform comprehensive genetic testing for rare diseases; this study investigated the attitudes of these laboratories toward the disclosure of secondary finding (SF). Following a preliminary survey, we identified laboratories conducting comprehensive genetic testing for participation. Subsequently, an online survey involving 20 selected facilities was conducted. The response rate was 80% (16/20). Of the 14 facilities, 71.4% had SFs. While 42.9% of them had a policy to disclose SFs with clinical utility, only 14.3% actively searched for actionable variants that could be included in the American College of Medical Genetics and Genomics list. Japan was less enthusiastic than the USA regarding SF disclosure. With regard to the reasons for not disclosing SFs, the factors “the thought that participants may have a low desire for SFs” and “uncertainty regarding their wish” were considered more important than in the USA. A content analysis of what was sought as a solution to this difficulty revealed a need to improve databases on pathogenicity and actionability and collect public thoughts on the issue. The factor “to promote entry in research” was not considered a critical reason for disclosing SFs, indicating that the thirst for information was not possibly due to anxiety but rather due to scientific interest. Japanese medical professionals may not be confident that society requires the disclosure of SFs. To improve the environment, it is necessary to survey the public regarding their thoughts on SF disclosure and discuss this issue in society.

日本罕见病种系格基因综合检测机构披露二次检测结果的困难。
在日本,进行罕见病综合基因检测的实验室数量有限;本研究调查了这些实验室对披露二次发现(SF)的态度。经过初步调查,我们确定了进行综合基因检测的实验室参与调查。随后,我们对选出的 20 家机构进行了在线调查。回复率为 80%(16/20)。在这 14 家机构中,71.4% 拥有 SF。其中42.9%的机构制定了披露具有临床实用性的SFs的政策,但只有14.3%的机构积极寻找可列入美国医学遗传学和基因组学学院名单的可操作变异。与美国相比,日本对披露 SF 的热情较低。关于不公开 SF 的原因,"认为参与者可能对 SF 意愿不高 "和 "不确定他们的意愿 "这两个因素被认为比美国更重要。对解决这一难题的方法进行的内容分析显示,需要改进有关致病性和可操作性的数据库,并收集公众对这一问题的看法。促进进入研究领域 "这一因素并不被认为是公开 SFs 的关键原因,这表明对信息的渴求可能不是因为焦虑,而是因为科学兴趣。日本医务人员可能对社会要求公开自费项目缺乏信心。为了改善环境,有必要调查公众对公开 SF 的看法,并在社会上讨论这一问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
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