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Clinical Services
Cancer Genetics
Hemochromatosis
Metabolism
Neurofibromatosis
Tuberous Sclerosis

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 for clinical genetics:
» Penn Ob/Gyn
» Children's Hospital
» Penn's DNA Lab

Division of Medical Genetics

Clinical Services and Centers

Clinical services including diagnosis, counseling and management of specific hereditary disorders are available through the Division of Medical Genetics. Patient care is provided primarily through specialized centers set up to met the needs of older children and adults with specific inherited disorders. Patients are seen throughout the week on the campus of the University of Pennsylvania Medical Center. Patients are either referred by a health care provider or may be self-referred. Appointments are made through the referral coordinator, Olga Slotiuk at 215-662-4740.

A genetic counselor may contact newly referred patients before the first appointment to learn about the reasons for referral, the family history, the medical history, and what testing has already been performed. Often, medical records and test results will need to be reviewed before the first visit. Based on a review of records, additional consultations or tests might be needed. These could be scheduled at the University of Pennsylvania Medical Center or at another medical center before the appointment date. If a patient is traveling from a distance, it may be possible to arrange consultations on the same day as the appointment with Medical Genetics. At the time of the visit other consultations may be recommended.

Visits to Medical Genetics include a review of medical and family histories, and a physical examination. There will be a discussion of the inherited condition, benefits and limitations of genetic testing, and management and/or treatment recommendations. All patients are seen by a board certified clinical geneticist and a board certified genetic counselor. Patients may also be seen by a medical student or a genetic counseling student, or by a genetics fellow. Following the appointment, patients and their care providers will be sent a letter summarizing the visit and recommendations.

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Services provided by the Division of Medical Genetics include diagnostic evaluation, medical management and genetic counseling:

Diagnostic evaluation involves a comprehensive review of the medical and family history, a review of previous laboratory or diagnostic studies, a physical examination (by a board-certified geneticist), and a detailed discussion of findings related to the condition in question and medical recommendations. Individuals are referred for a diagnostic evaluation because there is known genetic condition in the family; there is a possibility of a genetic condition based on symptoms and/or past medical history; or there is a request for a second opinion. Making the diagnosis of a genetic condition sometimes involves specialized genetic testing.

Medical management involves periodic visits to Medical Genetics for monitoring of symptoms relating to a patient’s genetic disorder or for preventive care. While we do not provide routine medical care, or care for acute illness in general, we are able to evaluate patients for problems that relate to their primary genetic diagnosis.

Genetic counseling is provided to patients as a part of their visit to the medical genetics clinic. It is a communication process between the patient and/or family and a genetic counselor or medical geneticist that addresses: the cause of a genetic disorder; risk of passing on a genetic condition to future generation; education about the disorder; and adjusting to living with a genetic disorder.

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In the general medical genetics clinic, we see adults to evaluate the possibility of genetic syndromes or to discuss genetic factors predisposing to common diseases. Altogether, the Division coordinates the following services:

  • General Genetics Clinic – evaluations for possible genetic disorders
  • Cancer Genetics, excluding hereditary breast/ovarian cancer
  • Hemochromatosis
  • Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
  • Heritable Disorders of Connective Tissue
  • Inborn Errors of Metabolism (Program for Enzyme Replacement Therapy)
    • Fabry Disease
    • Gaucher Disease
    • Mucopolysaccharidoses
      • - Hurler, Hurler-Scheie and Scheie Syndromes
      • - Hunter Syndrome
  • Neurofibromatosis, type I
  • Tuberous Sclerosis
  • Von Hippel-Lindau Syndrome

Other divisions and centers in the University of Pennsylvania Health System and nearby Children's Hospital of Philadelphia also provide services for patients with possible genetic syndromes.

Go to: Other UPHS and CHOP-affiliated clinical services and centers
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