Victor A. McKusick and medical genetics among the Amish

Abstract

In 1962, two events led Dr. Victor McKusick to embark on what became a lifelong connection to the Amish people. His work among the Amish sparked a whole new branch of genetics, namely, that of the genetics of inbred populations, and led to the recognition and characterization of dozens of new Mendelian disorders, blood groups, and chromosomal variants. He and his colleagues initiated studies of blood pressure, diabetes, and cervical carcinoma, demonstrating the potential of the Amish communities for analysis of common disorders. As time went on, other investigators came to recognize that the very characteristics of Amish society that made it an ideal laboratory for the study of Mendelian disorders also lent themselves to the dissection of quantitative and common traits such as hypertension and hyperlipidemia. Along the way, McKusick's interactions with the Amish people gave them additional insight into the risks of recessive disorders and led to some changes in the social mores of the society.