Genetics

Clinical Biochemical Genetics

The Clinical Biochemical Genetics service at The Children's Hospital of Philadelphia, directed by Marc Yudkoff, MD, has a long-standing tradition of excellence. In its present form, the program serves with Adult and Clinical Genetics as one of the patient-orientated facets of Genetics.

The Biochemical Genetics Laboratory has been in existence for over a quarter of a century. Its growth paralleled the growth in column chromatography, mass spectrometry and instrumentation in general. The facility exemplifies the workings of a laboratory that is essential for the diagnosis and treatment of patients with biochemical genetic disorders employing state-of-the-art methods. The laboratory is the hub of our active program in Biochemical Genetics.

Residents/fellows in Genetics are required to rotate through the Clinical Biochemical Genetics service. They are initially given the opportunity to become proficient in this discipline, and if they so desire, to master the clinical and laboratory skills during their last 2 years of training, in essence qualifying them to sit for our specific board examination. All trainees are exposed to a broad array of inborn errors. During the first year, they are instructed in the basic biochemistry and cell biology necessary to understand these diseases at a core level. While participating in the Biochemical Genetics Clinic or the consultative inpatient service, they learn to recognize the basic clinical signs and symptoms, diagnostic approaches and management of patients with diverse inborn errors of metabolism.

Emphasis is placed on the most common of the disorders of carbohydrate, amino acid, ammonia, organic acid, fatty acid, and mitochondrial energy metabolism. The broad array of lysosomal storage diseases and peroxisomal disorders are presented along with the defects in transport, vitamin cofactor and metal metabolism. Emphasis is placed on pathophysiology and mechanisms of disease. The fellows are taught to appreciate the inherent heterogeneity in our field, as well as the epigenetic phenomena that may be important in pathogenesis complications and outcome.

The Biochemical Genetics Laboratory is the focus of the service. The trainees move from the patient with signs and symptoms to the first level metabolic laboratory testing. With time, they become well-versed in the specific diagnostic tests. In this way, they move from metabolite analysis or biochemical markers to disease diagnosis involving an enzyme, transport or structural protein, etc. to the gene defect and mutation analysis if feasible.

Lastly, trainees are provided guidance in transmitting the same information to the family, and the patient if applicable, in a manner that is suitable to provide the critical facts, enable counseling, but ensure a satisfying doctor-patient-family relationship. In the process, they also gain insight into the special needs of our patients that involve social and psychological services necessary to accomplish adequate care.

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