Clinical Genetics Training Program

About our clinical and laboratory genetics training programs

Our genetics training programs integrate clinical and research experiences at both Children's Hospital of Philadelphia and the Hospital of the University of Pennsylvania. Clinical training programs include an integrated Pediatric/Genetics Residency program and a Medical Genetics Residency training program for physicians who have completed training in a clinical specialty such as pediatrics, internal medicine, obstetrics-gynecology, or other relevant specialties, as well as the Medical Biochemical Genetics Fellowship program. Laboratory training programs include the Laboratory and Genomic Diagnostic Fellowship program and Clinical Biochemical Genetics Fellowship program

Clinical training programs

Pediatrics/Genetics Combined Residency Program

We offer a four-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. The first year of the training program is a typical pediatrics intern year. The remainder of the years integrate pediatrics and medical genetics rotations. Please see below for a listing of Medical Genetics rotations.

Medical Genetics Residency Program

The University of Pennsylvania and Children's Hospital of Philadelphia (CHOP) offer a unique opportunity for training in human genetics. The program integrates experiences at CHOP, 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:

  • Clinical genetics service
  • Biochemical genetics service, including experience in metabolic screening
  • Laboratory rotation (cytogenetics, biochemical genetics, molecular genetics)
  • Adult medical genetics at HUP
  • Prenatal Genetics at HUP

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. Residents 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

Educational experiences

Clinical and laboratory trainees have a variety of educational experiences:

  • Weekly Genetics Grand Rounds
  • Weekly didactic lectures, taught by faculty in the division
  • Occasional opportunities to teach other trainees
  • Didactic experiences within various rotations (see above)

Presentation and meeting opportunities

Trainees have opportunities to give presentations and attend meetings:

  • Case presentations at Genetics Grand Rounds.
  • Clinical trainees attend NAMA (North American Metabolic Academy) once during their training.
  • Clinical trainees are expected to attend at least one meeting during their final year of training:
    • David W Smith Dysmorphology meeting
    • American College of Medical Genetics meeting
    • American Society of Human Genetics meeting
    • Society of Inherited Metabolic Disease

Research program

Combined Pediatrics/Genetics trainees spend roughly 75 percent of their final year of training devoted to research. Medical Genetics trainees spend 75 percent of the second and third years of training devoted to research. The trainee 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. Trainees are 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.

How to apply

Clinical training programs

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 Pediatrics Residency Program page for details about how to apply using the ERAS system.

For additional information about the program or application process, please contact Ian Krantz at 215-590-3856 or

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

Tobacco-free hiring policy

To help preserve and improve the health of our patients, their families and our employees, 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.