Diagnosis and the new genetics

Abstract

The rapid pace of gene discovery has led to new opportunities for clinical diagnosis using molecular genetic technologies. Recent achievements include the culmination of the 10-year search for the Huntington's disease gene, the identification of predisposing genes for certain familial colon cancers, and the characterization of potential genetic risk indicators for Alzheimer's disease, hypertension, and coronary heart disease. These advances, coupled with the previous discoveries of important disease genes (e.g. those for cystic fibrosis, Duchenne muscular dystrophy, and fragile X syndrome) have quickly expanded the capacity of genetic analysis, allowing the design of enhanced and novel approaches for diagnostic testing. The transfer of molecular technology to the area of clinical genetic analysis, although associated with many potential benefits, has raised some concern regarding the possible misuse of genetic tests and information, particularly with regard to presymptomatic diagnosis of disease and population screening.