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

シシツ テイカ リョウホウ ニヨル ケイドウミャク プラーク アンテイカ ノ ヒョウカ : チョウオンパ integrated backscatter オ モチイタ カラー マッピング システム ノ カイハツ ト リンショウ オウヨウ

Background : The carotid plaque vulnerability is related to myocardial and cerebral infarction. We intended to develop an imaging system which enables to visualize tissue characteristics in the carotid plaques based on ultrasound integrated backscatter（IB）. And to test its clinical efficacy, effect of the statin therapy on the plaques was evaluated with our software. Methods and Results : Carotid ultrasound examination was performed and ultrasonographic RAW data of the plaques were obtained from８patients undergoing carotid artery endarterectomy. Tissue characteristics in the plaques of resected examples were compared with preoperative ultrasonic images and the tissue IB values corresponding to the specimens were determined for developing our imaging system. Using this system, Color-coded maps of plaques in the three patients were constructed before and after lipid lowing therapy. We could demonstrate that lipid fraction in each plaque decreased and fibrous or calcification fraction increased in the follow-up study. Conclusions : Changes in histology of carotid plaques by statin could visualized with our imaging system. This technique may become a useful tool for the management of atherosclerosis