次世代シークエンサーにおける二次的所見の開示に関する実態―遺伝医療専門家を対象とした全国調査より―

京都大学0048新制・課程博士博士(社会健康医学)甲第22889号社医博第113号新制||社医||11(附属図書館)京都大学大学院医学研究科社会健康医学系専攻(主査)教授 川上 浩司, 教授 松田 文彦, 教授 中島 貴子学位規則第4条第1項該当Doctor of Public HealthKyoto UniversityDFA

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

The management of secondary findings (SFs), which are beyond the intended purpose of the analysis, from clinical comprehensive genomic analysis using next generation sequencing (NGS) presents challenges. Policy statements regarding their clinical management have been announced in Japan and other countries. In Japan, however, the current status of and attitudes of clinical genetics professionals toward reporting them are unclear. We conducted a questionnaire survey of clinical genetics professionals at two time points (2013 and 2019) to determine the enforcement of the SF management policy in cases of comprehensive genetic analysis of intractable diseases and clinical cancer genome profiling testing. According to the survey findings, 40% and 70% of the respondents stated in the 2013 and 2019 surveys, respectively, that they had an SF policy in the field of intractable diseases, indicating that SF policy awareness in Japan has changed significantly in recent years. Furthermore, a total of 80% of respondents stated that their facility had established a policy for clinical cancer genome profiling testing in the 2019 survey. In both surveys, the policies included the selection criteria for genes to be disclosed and the procedure to return SFs, followed by recommendations and proposals regarding SFs in Japan and other countries. To create a better list of the genes to be disclosed, further examination is needed considering the characteristics of each analysis

Equine pericardial roll graft replacement of infected pseudoaneurysm of the ascending aorta

Abstract The standard procedure for treating infected aortic aneurysms is to resect the infected aorta, debridement of the surrounding tissue, in situ graft replacement, and omentopexy. However, the question of which graft material is optimal is still a matter of controversy. We recently treated a patient with an infected ascending aortic aneurysm. Because of previous abdominal surgery, the omentum was unavailable. The ascending aorta was replaced in situ with equine pericardial roll grafts. The patient is alive and well 29 months after the operation.</p