2022 Volume 49 Issue 2 Pages 263-270
At Japan Society of Ningen Dock, we started educational program about human genomics and genetic test for preventive medicine from 2019. It contain e-learning and FAQ and is available for not only doctors but all the paramedics.
We think the first genetic tests to introduce at health check are pharmacogenomics and HLA typing. They are important to predict serious side-effects or efficacy of medications including clopidogrel. HLA types are also related to predisposition of many diseases. If we know them beforehand, they can be used for preventive medicine.
Next genetic-test candidates are for multifactorial diseases. Those diseases are main foci of health check-up or ningen dock. Recent studies showed lifestyle modification lowered incidence of coronary disease, dementia and gastric cancer into half even in high genetic risk groups. Polygenic risk scores using millions of SNP information are promising and have more prognostic value.
The third tests are for adult-onset dominant genetic disorders. American College of Medical Genetics and Genomics has published recommendations of genes. In general population, 2% of people are estimated to have pathogenic variants of those genes. It is important to develop appropriate surveillance plans for persons with those mutations in the future. It is also necessary to build up social and legal flamework to protect from genetic discrimination and insurance issues.
Including those tests, health check with whole genome screening has started at university hospital.