診療に役立つ遺伝学的検査の基礎知識

抄録

Social insurance covers genetic testing for many inherited neurological disorders. Comprehensive genetic analysis using next–generation sequencing is now available for the clinical diagnosis of most inherited neuromuscular diseases. On the other hand, genetic tests used in clinical practice are becoming more complex every year in terms of their analytical methods and the insurance reimbursement system. In addition, genetic tests differ from other clinical tests in that (1) they do not change throughout life (invariance), (2) they can predict the future onset of disease (predictability), and (3) they are shared by a certain percentage of family members and blood relatives (shareability). Recently, innovative disease–modifying therapies have emerged for some diseases, such as hereditary ATTR amyloidosis, and it is becoming possible to implement preventive medicine through appropriate clinical genetic approaches for at–risk individuals.

Thus, genetic diagnosis is becoming more accessible in clinical neurology, and understanding genetic medicine is becoming a necessary skill.

Neurologists need to understand genetic testing in the daily management of designated incurable and inherited neurological disorders. This review will outline the current status and future perspectives of genetic testing in neurology as a basic and helpful knowledge of genetic testing in daily practice.