Patient Care

Penn Medical Genetics provides diagnosis, counseling and management of specific hereditary disorders. Patient care is provided primarily through specialized centers set up to meet the needs of adults and older children with inherited disorders.

Visits to Penn Medical Genetics include a review of medical history, family history and a physical examination. The Penn Medical Genetics team discusses with patients the inherited condition as well as recommendations for management and/or treatment. They also talk about the benefits and limitations of genetic testing. Following the appointment, patients and their care providers are sent a letter summarizing the visit and recommendations.

A genetic counselor may contact new patients before the first appointment to learn about the reason for referral, family history, medical history and what testing has already been performed. In many cases, medical records and test results will need to be reviewed by the Penn Medical Genetics team before a patient’s first visit. Based on a review of records, additional consultations or tests may be required before the visit.