Genetics

Adult Genetics

The goals of the adult genetic rotations, directed by Reed Pyeritz, MD, PhD, at the Hospital of the University of Pennsylvania, are to:

The objectives are:

1. The resident/fellow will demonstrate proficiency in the evaluation of patients at risk for colon cancer, including distinguishing between typical characteristics of familial polyposis coli and its variants from non-hereditary polyposis colon cancer, performing appropriate physical examinations, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular testing, interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

2. The resident/fellow will demonstrate proficiency in the evaluation of patients at risk for breast or ovarian cancer (or both), including distinguishing between typical characteristics of cancers associated with mutations of BRCA1 from those associated with mutations of BRCA2, performing appropriate physical examinations, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular testing, interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

3. The resident/fellow will demonstrate proficiency in the evaluation of patients at risk for or suspected of having inherited neurological disorders [e.g., ataxias, neurofibromatosis, Charcot-Marie-Tooth syndrome, Huntingdon's disease, muscular dystrophies (including myotonic muscular dystrophy), mitochondrial disorders], including performing appropriate physical examinations including a comprehensive neurological examination, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular testing, interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

4. The resident/fellow will demonstrate proficiency in the evaluation of patients at risk for lipid disorders or premature coronary artery disease, including distinguishing between typical characteristics of heterozygous familial hypercholesterolemia from those of familial combined hyperlipidemia, performing appropriate physical examinations, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular testing, interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

5. The resident/fellow will demonstrate proficiency in the evaluation of patients at risk for or suspected of having hemochromatosis, including performing appropriate physical examinations, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular testing, interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

6. The resident/fellow will demonstrate proficiency in the evaluation of patients at risk for or suspected of having an hereditary disorder of connective tissue, including distinguishing between typical characteristics of Marfan syndrome from Ehlers-Danlos syndrome, performing appropriate physical examinations, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular testing (if available), interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

7. The resident/fellow will demonstrate proficiency in the evaluation of adult patients at risk for or suspected of having metabolic disorders [e.g., Gaucher disease, homocystinuria, the porphyrias, the inherited amyloidoses, Fabry disease, pregnant women with phenylketonuria, late-onset variants of common pediatric metabolic disorders), including performing appropriate physical examinations, interpreting results of diagnostic procedures, providing detailed genetic counseling about the patient's risk and that of their family members, offering appropriate molecular or biochemical testing, interpreting the results of these tests, and providing clear summaries of the patient's evaluation and written recommendations to the patient, primary care physician, and appropriate specialists.

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