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Department of
Genetics

Yale University
School of Medicine
333 Cedar Street
New Haven, CT
06510 USA

The Department of Genetics offers training leading to board eligibility in the ABMG specialty, Clinical Biochemical Genetics. While research activities constitute an important part of this training, the program goal is to prepare qualified candidates for directorship of clinical laboratories. The broad goals of the program are to teach trainees about:

• Biochemical pathways that affect human health
• Types of alterations in biochemical pathways that lead to disease
• Diagnostic strategies for identifying biochemical disorders
• Types of samples that can be used for biochemical analyses
• Limitations of biochemical testing
• Quality control and government regulation in clinical biochemical laboratories

Candidates for the Clinical Biochemical Genetics Fellowship must have a PhD in Genetics or Biomedical Science with a very strong background in medical genetics or an MD with relevant laboratory experience. During their training in the Biochemical Disease Detection Laboratory, trainees learn the basics of testing procedures, appropriate test selection based on clinical indications, the significance of normal and abnormal results for each test, and the various components of a report. They also participate in the daily review of test results and interpretation.

In addition trainees are required to take a limited number of graduate courses and attend clinics, where they have the opportunity for supervised contact with patients. Throughout the training period, fellows are expected to engage in high-quality research projects related to their clinical activities.

Additional concepts reviewed include test characteristics, the steps in the development and validation of a new test, the importance of quality control, and the selection of a diagnostic laboratory.

Currently, the lab performs approximately 4000 tests annually, which include:

• Genetic screening spot tests on random urine
• Quantitative and qualitative amino acid analysis by HPLC in plasma, urine and cerebrospinal fluid
• GC/MS analysis for urine organic acid analysis
• Tandem mass spectrometry (MS/MS) for acylcarnitine analysis, stable isotope dilution testing, and use of this technology in newborn screening
• Plasma carnitine analysis, including free, total and acetyl by MS/MS
• GC/MS stable isotope dilution analysis for urine acylglycines, succinylacetone, methylmalonic acid, and free fatty acid analysis

Detailed discussions of several cases with inborn errors of metabolism, supported by appropriate diagnostic studies, are presented annually at Clinical Genetics Rounds as well as Pediatric Discharge Conference. These forums provide in-depth discussion of selected biochemical disorders to a broad clinical audience. Many cases with suspected metabolic disorders are presented at Post-Clinic Conference where suggestions regarding diagnostic evaluation are made. Fellows have the opportunity to attend clinics in which patients with inborn errors of metabolism are cared for by the metabolic attending physicians and clinical genetics residents.

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Last modified: Friday, 13-Feb-2009 18:10:54 EST . (gs)





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