When to Obtain a Genetics or Metabolism Consultation

A genetics consultation can take place as an inpatient consultation or a clinic visit. Some pediatric hospitals have separate services for metabolic (biochemical) disorders (Metabolism) and nonmetabolic genetic disorders (Genetics or Dysmorphology). Other hospitals have a joint service. Genetic/metabolic providers include residents, fellows, attendings, genetic counselors, and metabolic dietitians. Consultation is appropriate whenever a genetic condition is known or suspected.

Common reasons to obtain a genetics consultation for a pediatric patient include:

• congenital malformations (birth defects)

• dysmorphic facial features

• intellectual disability or autism spectrum disorder

• another unusual phenotype

• combination of unusual features in multiple organ systems

• childhood onset of a typically adult disease

• positive family history

• question about genetic testing

• any other feature suggesting a genetic disorder

Common reasons to obtain a metabolism consultation include:

• positive newborn blood-spot screen

• metabolic laboratory abnormality

• encephalopathy

• neonatal seizures

• developmental regression in the setting of intercurrent illness

• hepatomegaly and/or splenomegaly

• hepatopathy or other unexplained organ dysfunction

• clinical picture suggesting a metabolic disorder

• a patient with a known metabolic disease presenting with an acute illness

• a patient with a known metabolic condition presenting for preprocedural evaluation

The genetics or metabolism consultant will ascertain the patient’s personal and family medical history and perform a physical exam. Obtaining key outside records beforehand, including genetic and metabolic test results, can help make the consultation more efficient and productive.