Population Screening in the Age of Genomic Medicine

Abstract

Newborns are now routinely screened for the presence of a number of inherited diseases. In these cases, early diagnosis allows treatment to be instituted before there are irreversible adverse consequences. However, as outlined in this installment in the Genomic Medicine series, clinical benefit can be derived from screening adults as well — not only for the genes associated with classic inherited conditions, such as cystic fibrosis and Tay–Sachs disease, but also for genes that are better considered risk factors for complex diseases, such as factor V Leiden and mutations associated with hereditary hemochromatosis.