Genetic Testing for Cardiomyopathy in Japan 2022: Current Status and Issues of Precision Medicine

Although many causative genes for primary cardiomyopathy have been identified, the use of genetic testing in routine practice is limited in Japan presently. Genetic diagnosis has been reported to be useful for early diagnosis through cascade genetic screening in the family, dif-ferentiating secondary cardiomyopathies, and predicting prognosis in some patients; none-theless, the acquisition of genetic information for cardiomyopathy is stagnating in actual clinical practice. There seem to be a number of reasons for this phenomenon, and although the use of next-generation sequencers has resolved some of the past issues, the importance of pathogenicity studies of variants that are identified is growing. To ensure that patients with cardiomyopathy and their relatives can receive precision medicine, the results of genetic anal-ysis linked to clinical information need to be collected, and a database of variants in Japanese people needs to be established. (J Cardiac Fail 2023;29:805-814)

Automated summary

Although many causative genes for primary cardiomyopathy have been identified, the use of genetic testing in routine practice is limited in Japan currently. Genetic diagnosis has been reported to be useful for early diagnosis through cascade genetic screening in the family, differentiating secondary cardiomyopathies, and predicting prognosis in some patients; nonetheless, the acquisition of genetic information for cardiomyopathy is stagnating in actual clinical practice. The importance of pathogenicity studies of identified variants is growing and establishing a database of variants in Japanese people is necessary for precision medicine in patients with cardiomyopathy and their relatives.