Biochemical Genetics Training Program

Children’s Hospital of Philadelphia (CHOP) is proud to offer both Clinical and Medical Biochemical Genetics training programs.

Our educational mission is to provide excellent training for the next generation of biochemical geneticists, including master clinicians, clinical laboratory directors and physician scientists. We strive to provide a framework of training that guarantees exposure to all aspects of care for the patient with an inborn error of metabolism, while also providing the flexibility to allow each trainee to tailor the program to meet their career goals.

These training programs share the strength that they draw on a biochemical genetics service that serves a large and diverse population and a large multidisciplinary biochemical genetics training team. Dedicated advanced biochemical genetics didactics are offered distinct from the clinical genetics training sequence.

Trainees are expected to attend the North American Metabolic Academy (NAMA) if not previously attended.  All trainees in both programs receive protected time for engagement in scholarly activity and are strongly encouraged to also attend at least one academic meeting to present their work during training. Trainees are expected to produce a publication and a quality improvement project by the end of training. Protected time is available for engagement in scholarly activity.

Medical Biochemical Genetics Fellowship

This 1-year training program is available to trainees who have completed an ABMGG-accredited Clinical Genetics residency program. Typical rotations in this program include:

• Inpatient biochemical genetics
• Outpatient biochemical genetics
• Day medicine
• Biochemical laboratory genetics
• Supervisory (subattending) inpatient rotation

The fellow also receives 8 weeks of protected time for scholarly activity. 

Clinical Biochemical Genetics Residency

This training program is offered as a 2-year training program for candidates with a PhD or MD from any institution.  It is preferred that PhD candidates have a degree in biochemistry, chemistry or genetics and that MD candidates have completed a residency in clinical pathology or clinical genetics (below). However, any previous field of focus is acceptable with a demonstrated passion for biochemical genetics. Candidates with a doctorate from an international institution are asked to first complete a Foreign Medical Graduate Credentials Review through the ABMGG. 

Alternately, this is offered as a 1-year training program  to trainees who have completed an ABMGG-accredited Clinical Genetics residency program.

The primary location of the Clinical Biochemical Genetics training program is the Michael J. Palmeiri Metabolic and Advanced Diagnostics Laboratory. This biochemical laboratory provides a diverse range of test options including amino acids, organic acids, acylcarnitine profile, lysosomal enzymology, congenital disorder of glycosylation testing, fatty acid oxidation testing, galactosemia testing and others and processes over 7,500 samples a year. Typical rotations in this program include:

• Amino acid analysis
• Acylcarnitine analysis
• Enzymology
• Laboratory management
• Laboratory Genetics and Genomics
• Acting Director

In the full two year program, trainees receive four months of protected time for scholarly activity and test development. In addition, trainees are encouraged to attend biochemical genetics clinic and participate in results disclosure.

Interested applicants should download the application packet. The application packet or any questions can be sent to GeneticsTraining@chop.edu.