Lancaster County, PA; LDL; familial hypercholesterolemia; hereditary diseases; autosomal dominant inheritance


Through a founder effect, one in eight Lancaster County, PA, Amish harbors the pathogenic APOB variant R3527Q, causing Familial Defective Apolipoprotein B-100 (FDB) that is rare in the general population. Affected individuals are at increased risk for high low density lipoprotein (LDL) cholesterol levels and cardiovascular disease and may benefit from early screening and treatment. A qualitative interview approach was used to investigate the genetic risk perceptions of the Amish and their attitudes towards genetic testing for FDB. The goal was to identify elements necessary for a successful program that would identify high risk individuals in the Lancaster County Amish community and provide them with potentially lifesaving education and interventions. Thirty interviews were conducted. Collected data were analyzed and coded for common themes. Participants perceived a great deal of importance in genetic risk and were aware of the significant impact genetics have on health. Most individuals perceived genetic risk as more significant than family history. Twenty-four of 30 individuals would consider testing; of these, all 24 reported they would take proactive measures to reduce risks if given a positive result. Most would prefer diet modification and natural health remedies, with prescription medication only as a last resort. Several participants stated that most Amish people would be unlikely to test if they were feeling healthy. Cost was the most significant barrier to pursuing testing. Implementing a successful screening program would require community outreach and awareness, risk reduction education and support, and minimal out-of-pocket expenses. The program’s success provides insights into the efficacy of predictive genetic screening for the general population. [Abstract by authors.]


The authors would like to thank all of the individuals who participated in this study. They would also like to extend their gratitude to the staff and liaisons at the Amish Research Clinic for their assistance in the coordination and completion of this research.” This project was completed in partial fulfillment of the requirements for the Master’s degree in genetic counseling at Arcadia University by Erin Sutcliffe.