遺伝子診断とその問題点

In recent years, many disease-related genes has been found with the development of molecular biological technique and molecular genetical analyses in patients with these diseases have been performed in clinical medicine. DNA diagnosis, diagnosis by detection of the mutation in disease-related genes, has a lot of advantages compared to usual diagnostic method. However, DNA diagnosis still has several weak points in clinical medicine. The first weak point is that we can not diagnose the patient as normal even when no mutation is found by DNA analysis. The second weak point is that functional analysis of the gene product,which is hard in clinical medicine, is necessary to confirm the mutation as the pathogenic mutation when the new mutation is found in the patient. Finally, it is also the problem that the sufficient supporting system for the patients after DNA diagnosis is not established in Japan. Then, it is important that not only advantages but also these weak points are fully considered before DNA diagnosis.