Clinical Laboratory Genetics Fellowship Programs

Overview

Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania have a long and distinguished history in genetic diagnostics. Cytogenetic, molecular and biochemical laboratory training has been offered here since the inception of these fields, and in 2017 the program was certified for training in the newly created field of Laboratory Genetics and Genomics (LGG). Training in biochemical genetics takes place at Children’s Hospital of Philadelphia, and training for the LGG program takes place at four sites on the campus of the University of Pennsylvania:

  1. The Division of Genomic Diagnostics in the Department of Pathology and Laboratory Medicine at Children’s Hospital of Philadelphia
  2. The Center for Personalized Diagnostics (CPD) in the Division of Precision and Computational Diagnostics in the Department of Pathology at the Hospital of the University of Pennsylvania 
  3. The Molecular Pathology Laboratory in the Division of Precision and Computational Diagnostics in the Department of Pathology at the Hospital of the University of Pennsylvania
  4. The Genetic Diagnostic Laboratory in the Department of Genetics at the Perelman School of Medicine at the University of Pennsylvania. Both the DGD and the CPD have integrated test menus with both molecular and cytogenetic/cytogenomic tests offered to promote a full scope of disease-specific, comprehensive testing.

Laboratory Genetics and Genomics Fellowship

The CHOP/Penn Laboratory Genetics and Genomics (LGG) Program is a three-year fellowship that provides ample exposure to a wide range of clinical genomic testing including cytogenetics, molecular cytogenetics, chromosomal microarray analysis (CMA), MLPA, Sanger sequencing, next generation sequencing panels, and exome sequencing. There are robust programs in both constitutional and cancer genetics. Fellows rotate across the campus, as well as with clinical services, bioinformatics, and laboratory genetic counseling. Over the course of the three-year program, fellows are provided opportunities to participate in test development and research.

Clinical Biochemical Genetics Fellowship

The CHOP Clinical Biochemical Genetics (CBG) program is a two-year fellowship based in the Michael J. Palmieri Metabolic Disease Laboratory. Fellows receive training in the performance, analysis and interpretation of a broad range of biochemical assays, including amino acid quantitation, acylcarnitine quantitation, organic acid analysis, lysosomal enzyme activity, testing for congenital disorders of glycosylation (CDG), and advanced fatty acid oxidation testing. The laboratory serves a large population of patients with inborn errors of metabolism and performs confirmatory testing for abnormal newborn screens from three states. Fellows will also have the opportunity to rotate with the metabolic clinical service. Over the course of the two-year program, fellows will also be encouraged to participate in test development.

Histocompatability and Immunogenetics Fellowship

The Immunogenetics Laboratory offers an ABHI-accredited Histocompatibility and Immunogenetics Fellowship. This is a two-year “director-in-training” fellowship under the direction of Dimitri Monos, PhD. Fellows receive extensive training in the performance, analysis and interpretation of a broad range of serological and molecular diagnostic assays that support CHOP’s pediatric solid organ and stem cell (bone marrow) transplantation programs, as well as outreach client programs. The assays and methodologies the fellow will learn include:

  • HLA typing by NGS and other various methods
  • HLA and non-HLA antibody screening
  • Donor and recipient crossmatching
  • Engraftment monitoring (chimerism studies)

The primary solid organ transplantation programs served by the laboratory include renal, cardiac, pulmonary, and liver. Fellows will also have the opportunity to rotate within the Division of Genome Diagnostic Laboratory. Over the course of the two-year program, fellows will be encouraged to participate in new test development and other quality improvement initiatives.

Additional information about the ABHI approved program including eligibility requirements can be found on the ASHI website.

Fellowship training program directors

ABMGG Fellowship Program Director
Nancy B. Spinner, PhD
Chief, Division of Genomic Diagnostics
Children’s Hospital of Philadelphia
Bromley Chair, Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
spinner@email.chop.edu

LGG Training Director
Minjie Luo, PhD
Director, Division of Genomic Diagnostics
Children’s Hospital of Philadelphia
Assistant Professor of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania
luom@email.chop.edu

Biochemical Genetics Training Director
Rebecca Ganetzky, MD
Division of Human Genetics
Children's Hospital of Philadelphia
Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
ganetzkyr@email.chop.edu

Immunogenetics Training Director
Dimitri Monos, PhD
Children's Hospital of Philadelphia
Professor of Pathology and Lab Medicine, Perelman School of Medicine at the University of Pennsylvania
monosd@email.chop.edu

Conference schedules and courses

  • Tuesday: Genetic Rounds
  • Tuesday: Genetic Fellows Didactics
  • Thursday: Genetic Fellows Journal Club
  • Thursday: Tumor Board (once per month)
  • Advanced Laboratory Genomics course, Division of Genomic Diagnostics
  • Genetic Counseling course, Arcadia University
  • Medical Genetics course, Perelman School of Medicine at the University of Pennsylvania
  • Division of Genomic Diagnostics Fellows’ Weekly Case Conference

LGG program rotation schedule

Current trainees

  • Jill Murrell, PhD, Clinical Cytogenetics, third year    
  • Nilesh Chitnis, PhD, Immunogenetics Laboratory Director in Training, first year
  • Emilie Lalonde, PhD, Clinical Molecular Genetics, second year
  • Stefan Rentas, PhD, Laboratory Genetics and Genomics, first year    
  • Samuel Baker, PhD, Laboratory Genetics and Genomics, first year   
  • Rojeen Niazi, PhD, Laboratory Genetics and Genomics, starting July 2018    
  • Fumin Lin, PhD, Laboratory Genetics and Genomics, starting July 2018  
  • Anh Dinh, MD, Immunogenetics Laboratory Director in Training, starting July 2018

How to apply

LGG or Clinical Biochemical Genetics Fellowships

To apply to the LGG or Clinical Biochemical Genetics programs, applicants must send the following materials:

  • Application (PDF)
  • Most recent CV
  • Personal Statement
  • Three (3) letters of recommendation

Application materials can be emailed to Gina Riggins Kohn, program coordinator, at rigginsg@email.chop.edu.

Histocompatibility and Immunogenetics Fellowship

If you are interested in applying to the Histocompatibility and Immunogenetics Fellowship, please contact Ed Frackelton, Immunogenetics Laboratory Manager, at Frackelton@email.chop.edu and attach a copy of your CV.

Contact information

For more information or if you have additional questions, please contact:

Gina Riggins Kohn
Academic Coordinator
Division of Genomic Diagnostics
Children's Hospital of Philadelphia
215-590-2930

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.