Issues in practice of the postmortem genetic testing

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08884
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Tokai University
• Principal Investigator: OSAWA Motoki 東海大学, 医学部, 教授 (90213686)
• Research Collaborator: KAKIMOTO Yu 東海大学, 医学部, 講師 ; OCHIAI Eriko 東海大学, 医学部, 特任助教
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 乳幼児突然死症候群 / 次世代シーケンサー / QT延長症 / ブルガダ症候群 / 遺伝カウンセリング

Outline of Final Research Achievements

The postmortem genetic testing to unexpected sudden deaths in infant is becoming popular to deduce the cause of death, in which inheritable disorders such as arrythmia and impaired fatty acid metabolism are subjects of investigation. In this study, we detected two critical nucleotide substitutions for fatal disorders among 19 examined cases. In addition to diagnosis, care for family members should be necessary in the genome analysis. In the present examined cases, genetic counseling including grief care was performed to parents in cooperation with genetic counselors and clinical doctors. We think a new system to take care of family members has been developed by the multidisciplinary approach including various stuffs in hospital.

Free Research Field

法医学