부산대학교 도서관

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives’ dyslipidemia history on individual responses to familial hypercholesterolemia genomic results. Involving 214 participants and using Japan’s 3.5KJPN genome reference panel, the study assessed preferences and intentions regarding familial hypercholesterolemia genetic testing results. The data revealed a significant inclination among participants with a family history of dyslipidemia to share their genetic test results, with more than 80% of participants intending to share positive results with their partners and children and 98.1% acknowledging the usefulness of positive results for personal health management. The study underscores the importance of family health history in genetic-testing perceptions, highlighting the need for family-centered approaches in genetic counseling and healthcare. Notable study limitations include the regional scope and reliance on questionnaire data. The study results emphasize the association between family health history and genetic-testing attitudes and decisions.
Author(s): Tomoharu Tokutomi (corresponding author) [1,2,*]; Akiko Yoshida [1,2]; Akimune Fukushima [1,2]; Kayono Yamamoto [2]; Yasushi Ishigaki [1]; Hiroshi Kawame [3]; Nobuo Fuse [3]; Fuji Nagami [3]; Yoichi Suzuki [3]; [...]