Informed-consent and Result Explanation of Genomic Testing

Genomic testing is now becoming popular. Although DTC (direct-to-consumer) service for genomic testing is available through internet, some problems remain in DTC. My co-investigators and I have investigated the efficacy of genomic testing, and found that it was useful if the results were properly explained by the doctor. In this study we prepared the informed consent form and developed the method for explanation, which I describe in this article. Various items including the purpose, significance and methods for genomic testing, and the way to protect personal information should be included in the informed consent form. With regard to explanation of the results, data of health check and information of family history are also taken into account and the explanation should be done by the doctor in person. When the rare variant is detected, the examinee is introduced to the genetic counselor and the specialist prior to the explanation of common variants. When rare variants are not detected, explanation of common variants, which includes diseases, diathesis and drug responses, is carried out. Disease risk consists of genetic and environmental risk. It is important to educate that overall disease risk is reduced by decreasing the environmental risk, which can be achieved by the examinee’s own effort to improve the life style.