Genetic heterogeneity: implications and methods of detection

Genetic heterogeneity is highly pervasive in genetic disorders. The need to identify its existence is reflected in the potentially different treatments, prognoses, and recurrence risks associated with each disease entity. Of the 3 major approaches to its detection, biochemical methods are better than pedigree, and pedigree methods are better than clinical in their ability to pinpoint the underlying defect, but each plays an important role in the discovery process. With the advent of several new highly specific biochemical techniques, the next decade promises to show major advances in this area of genetics.