One of the trickiest things about genetic disorders or diseases is that they may go completely unnoticed until a severe problem occurs. And even then, if the condition presents with unusual or unexpected symptoms, it may not be properly anticipated or treated until more detailed genetic tests are conducted.
One group of people at particular risk for unusual-presenting genetic diseases are the Amish and Mennonite people, collectively referred to as Plain People (due to their simple dress and lifestyle). As this story from Pitt Med Magazine details, people from these communities are often predisposed to genetic diseases, primarily autosomal recessive disorders, due to limited genetic diversity as a result of centuries of living separately from larger surrounding populations. 
Across the country, there are over 350,000 Plain People in communities distributed across at least 32 states. And of this small, but rapidly growing population, Pennsylvania is home to the largest numbers across its central and western regions.
While Plain People usually seek out natural remedies for the majority of their health care needs, they will often seek medical attention at larger medical facilities when more serious symptoms and problems present. In our Western Pennsylvania region, that of course means that many members of this population end up across various UPMC facilities and UPMC Children’s Hospital of Pittsburgh.
Unfortunately, there is limited documentation of genetic diseases among the Western Pennsylvania Plain community. And of course, there are factors such as transportation, cost, and awareness, that limit the treatment and care that can be provided to these communities. But in an effort to better anticipate, treat, and study this problem, Lina Ghaloul-Gonzalez MD and Cate Walsh Vockley, genetic counselor, established the Plain Community Translational Medicine Program within the Division of Genetic and Genomic Medicine at UPMC Children’s Hospital and the Department of Pediatrics, which provides clinical care and research opportunities to this community though the main CHP location or the outreach clinic in Hermitage, PA.
The ongoing problem, however, is that only about 30% of Plain patients seen at UPMC-CHP that qualify for genetic evaluation have been referred to genetic services. A recent publication titled, “Under-Referral of Plain community members for genetic services despite being qualified for genetic evaluation,” by Ghaloul-Gonzalez, Walsh Vockley, et al. in the Journal of Genetic Counseling highlights this gap in provider referral for genetic evaluation.
The goal of the Plain Community Translational Program is to provide affordable clinical genetics evaluation and treatment to its patients, while also building relationships with these underserved individuals. Ultimately, the program will aim to greater document and understand the spectrum of genetic diseases among the Plain community in the western Pennsylvania region, and provide necessary health care and screening. Lessons learned will not only benefit the local Plain People but the general population as well by providing a broader scope of the varying presentations and developments of genetic diseases and disorders.