Key result
Genetic testing for cardiomyopathy remains limited in Japan, driving the need for a variant database.
Why the study?
Despite known benefits for early diagnosis, differentiation, and prognosis, genetic testing for primary cardiomyopathy remains limited and stagnating in routine clinical practice in Japan.
Genetic testing for cardiomyopathy in Japan is currently underutilized, highlighting the need for a national variant database linked to clinical information to advance precision medicine.
May support national Japanese cardiomyopathy genetic databases; leaves open effects on precision medicine outcomes.
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, differentiating secondary cardiomyopathies, and predicting prognosis in some patients; nonetheless, 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 analysis linked to clinical information need to be collected, and a database of variants in Japanese people needs to be established.
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Kubo et al. (2023) conducted a review in Cardiomyopathy. Genetic testing was evaluated. Genetic testing for cardiomyopathy in Japan remains limited in routine practice, highlighting the need to collect clinical-genetic data and establish a variant database for Japanese patients.
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