"Early Detection of Hereditary Cancer and Cardiovascular Diseases Possible Through Genomic Analysis"

A study in South Korea has shown that genome analysis can enable early detection of genetic variants that cause cardiovascular diseases.

The Korea Disease Control and Prevention Agency's National Institute of Health recently published in the specialized genomics journal Human Genetics the results of an analysis of the frequency of pathogenic genetic variants among participants in the National Bio Big Data Pilot Project.

Researchers analyzed the whole genome sequences of 7,472 Koreans and identified pathogenic genetic variants classified as secondary findings in 3.75% (280 individuals). Among these, hereditary cardiomyopathy, arrhythmia, and other cardiovascular diseases accounted for 2.17%, while hereditary cancer diseases accounted for 1.22%. Secondary findings refer to disease-related variants discovered not as the primary purpose of genome testing but based on expert recommendations. The increase in whole genome-based analyses has made early diagnosis before disease onset possible.

However, while the American College of Medical Genetics and Genomics provides clinical guidelines for secondary findings, related information is still lacking domestically in South Korea.

The current study results can serve as a basis for developing clinical practice guidelines for genetic diagnosis related to secondary findings in Korean medical settings. The National Institute of Health has developed clinical guideline recommendations for secondary findings discovered through genome sequencing in collaboration with experts including clinicians, clinical geneticists, and bioethics professionals. Furthermore, efforts are underway to develop clinical guidelines for secondary finding genes and disease-specific clinical protocols for Koreans.

Park Hyun-young, Director of the National Institute of Health, stated, "As whole genome sequencing becomes possible within days at low cost, early diagnosis, genetic counseling, and subsequent management of hereditary diseases amenable to preventive treatment are necessary."

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