Clinical Genetics Training

Pediatrics/Genetics Combined Residency Program

We offer a 4-year integrated Pediatrics/Genetics residency program (in conjunction with the Department of Genetics at the University of Pennsylvania School of Medicine) leading to board eligibility in both disciplines. Please see our Pediatric Residency Web site to get more information and learn how to apply.

Medical Genetics Residency Program

The University of Pennsylvania and The Children's Hospital of Philadelphia offer a unique opportunity for training in human genetics. The program integrates experiences at The Children’s Hospital of Philadelphia, the Hospital of the University of Pennsylvania (HUP), and other clinical and research opportunities available at the University of Pennsylvania.

This training program, which is under the co-sponsorship of the Departments of Pediatrics, Genetics, Medicine, and Obstetrics and Gynecology at the University of Pennsylvania and the Division of Human Genetics and Molecular Biology at CHOP, is designed for physicians who have completed training in a clinical specialty such as pediatrics, internal medicine, obstetrics-gynecology, or other relevant specialties.

For the MD trainee, the first year is devoted to training in clinical genetics. Although the schedule is individualized according to a person's prior experiences, interests and training, the usual rotations include:

During the second and third year of the training, residents focus on research activities and continue to participate in genetic clinics. At the end of the training, the resident should be competent to diagnose, clinically manage, and counsel patients with chromosomal anomalies, inborn errors of metabolism, adult genetic conditions, and other genetic syndromes. S/he should have a thorough understanding of the use and interpretation of genetic and metabolic laboratory tests that are essential to pre- and post-natal diagnosis and management.

The graduate will be eligible to take the American Board of Medical Genetics examinations in the relevant disciplines and should qualify for faculty appointment in an appropriate department in a major medical school. Foreign medical graduates must have at least two years residency training in an accredited program in the United States. USMLE exams 1, 2 and 3 must be completed and scores forwarded with your application for all applicants.

Clinical services

Patients are referred from the Northeast region of the United States to the Clinical Genetics Service and Biochemical Genetics Service at CHOP and the Adult Medical Genetics Programs at HUP for diagnosis, counseling and care. Patients are evaluated in the outpatient clinic setting and as in-hospital consultations. Additional patients are counseled in other specialty clinics. All clinics are staffed with trained geneticists with various subspecialty interests. Weekly Genetics Grand Rounds (CME accredited) are mandatory for the clinical trainees and cover topics in clinical, prenatal, biochemical and adult genetics. These rounds have served as a forum for an interchange of ideas and have been the source of much collaborative research.

Research program

During the second and third year of training, 75 percent of the resident's time is devoted to research. The resident may choose from many research opportunities in the following areas: molecular genetics, cytogenetics, somatic cell genetics, cancer genetics population genetics, biochemical genetics, gene regulation, prenatal diagnosis, teratology, embryology, differentiation and developmental genetics, and immunogenetics. S/he is expected to complete a major research project as the primary investigator. The opportunity to participate in an additional (fourth year) highly specialized research project may also be available.

Tobacco-free hiring policy

To help preserve and improve the health of our patients, their families and our employees, The Children’s Hospital of Philadelphia has a tobacco-free hiring policy. This policy applies to all candidates for employment (other than those with regularly scheduled hours in New Jersey) for all positions, including those covered by the Collective Bargaining Agreement.

Job applicants who apply after July 1, 2014 will be expected to sign an attestation stating they’ve been free of nicotine or tobacco products in any form for the prior thirty (30) days. They will also undergo a cotinine test as a part of the Occupational Health pre-placement drug screen administered after the offer of employment has been accepted but before the first day of hire.

Exemptions: Attending physicians (excluding CHOP physicians in the Care Network), psychologists, principal investigators and/or Penn-based faculty are exempt from this process to better align with our colleagues at the University of Pennsylvania Perelman School of Medicine.

How to apply

CHOP participates in the National Resident Matching Program (NRMP) for the Medical Genetics and Pediatric/Genetics combined residencies. Applicants should submit their applications through ERAS. Please visit CHOP’s pediatric residency program page for details about how to apply using the ERAS system.

For additional information about the program or application process, please contact Regina Harvey, program coordinator, at 215-590-3856 or

Applicants seeking advanced training in biochemical genetics or the laboratory disciplines should apply as follows:

  • Print
  • Share

Contact Us