Plain Community Translational Medicine Program and Clinic at UPMC Children's Hospital of Pittsburgh

At UPMC Children's Hospital, our health experts specialize in genetic conditions that are more common in people from the Plain community (Amish and Mennonites).

We offer low- or no-cost genetic counseling and testing for people of all ages — from newborns to adults.

But we don't just diagnose genetic conditions. We also connect people in the Plain Communities to treatment.

Our clinics at UPMC Children's Hospital and other UPMC sites provide culturally sensitive and family-centered care. We see children and adults with complex and rare disorders from western Pennsylvania, Ohio, New York, and West Virginia.

How We Help Plain Communities

We help families find answers to their questions about genetic conditions and other conditions that may be influenced by genetics, to understand their risks for occurrence of these conditions, and provide guidance about treatment options.

We suggest that people bring medical records and a list of symptoms with them when coming for evaluation.

Before we do genetic tests, we:

  • Look through their health records.
  • Ask about the health of family members.
  • Do a complete physical examination and often some basic laboratory studies.
  • Identify the most appropriate genetic testing approaches.

When we provide test results, we:

  • Explain what the test results mean for the patient, their family members, and future children.
  • Take time to answer questions and address any concerns.
  • Provide treatment recommendations and ongoing management.
  • Connect people to additional caring UPMC experts who treat rare disorders as needed.

Genetic Services We Offer Plain Communities

Basic genetics

We provide evaluation, counseling and testing for anyone with concerns about a genetic condition. This could be for themselves or their children.

We explain the tests in detail, including what the results mean and options for dealing with risks and for treatment.

Many of our patients continue their management of their rare, treatable disorder with us.

Carrier screening

This screening provides vital information to people planning to have children.

If the couple desires, we can screen for gene changes that could cause disease in their children, even if they don't have the disease themselves.

Some gene changes only cause disease in males or females. Or they only cause disease when the child inherits one copy of the gene from each parent.

If a person is a carrier for a genetic condition, we explain the risk of passing on the condition. We also talk about risks for passing down that disease and provide for early diagnosis in a culturally sensitive way.

Metabolic disease screening

Children who have a metabolic disease may lack a certain enzyme or hormone that the body needs to process food. Genetic differences often cause these diseases.

We screen children for a wide range of genetic metabolic diseases. Many are treatable.

Diagnosing them early is crucial because early treatment can:

  • Support children's growth.
  • Avoid learning problems.
  • Prevent organ damage.

Rare genetic disease tests

Many children have malformations of the face, ears, hands, feet, or other parts of the body. In some cases, these are visible signs of genetic conditions that can damage the brain, heart, or other organs.

Our experts know the unique physical signs of hundreds of rare conditions.

By testing children for these conditions, we can learn if they have an inherited disease.

We talk to parents about how the disease affects their child and what treatments are available, including clinical trials of new treatments.

Why Choose the Plain Community Clinic?

People in Amish, Mennonite, and other Plain Communities face barriers and bias when accessing care.

The team at our clinic:

  • Removes these walls with a confidential, warm, and respectful approach.
  • Connects people to health care close to their homes as much as we can.
  • Respects the culture of Plain Communities, as well as their unique challenges.

Along with diagnosing known genetic conditions, we research undiagnosed diseases in the Plain Communities.

We work with other centers across the country to improve our knowledge of these conditions. This research helps us provide more precise information and better treatments.

Our Experts

Contact the Plain Community Clinic

To make an appointment, call Cate Walsh Vockley at 412-692-7349.