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

メカニカルストレスが脳卒中易発症性自然発症高血圧ラット (SHRSP) の骨密度に及ぼす影響

To assess the effects of mechanical stress on bone mineral density in stroke-prone spontaneously hypertensive rats (SHRSP), ten-week-old SHRSP were assigned to a jump exercise (SHR-E, n=11) or a sedentary group (SHR-S, n=11). Normotensive Wistar-Kyoto rats (WKY) were also assigned to a jump exercise (WKY-E, n-11) or sedentary group (WKY-S, n=11). Rats in the exercise groups jumped 10 times/day, 5 days/wk, for 6 weeks, with a jumping height of 40 cm. After the experiment, the bone mineral density of dissected left tibia was measured using dual energy X-ray absorptiometry. There were no significant differences in final body weight or systolic blood pressure between either the SHR-E and SHR-S or the WKY-E and WKY-S. Tibial bone mineral density was greater in SHR-E (+4.1%, P<0.05) than in SHR-S, and in WKY-E (+5.8%, P<0.01) than in WKY-S. Tibial bone mineral content was also greater in SHR-E (+10.0%, P<0.01) than in SHR-S, and in WKY-E (+6.5%. P<0.05) than in WKY-S. From these results, we conclude that, despite their abnormal calcium metabolism, the bones of SHRSP have the potential to increase bone mineral density by adapting to jump exercise as same as the bones of WKY