Paediatrics: When to refer to clinical genetics

When to refer to clinical genetics

A majority of underlying chronic disorders in children are either clear-ly genetic or have a genetic susceptibility. It is increasingly important for paediatricians to be able to recognize genetic disorders and to know when to enlist the help of a clinical geneticist.

Useful definitions

•   Dysmorphic features: physical features, particularly unusual facial features, that are not usually found in a child of the same age or ethnic background.

•   Abnormal growth parameters: height or weight or OFC >98th centile or <2nd centile.

Indications for referral to clinical genetics

•   Congenital anomalies:

•   multiple congenital anomalies;

•   isolated congenital anomaly in conjunction with dysmorphic features/developmental delay/abnormal growth parameters/a family history.

•   Dysmorphic features: esp. in conjunction with developmental delay/ learning disability/congenital anomaly/abnormal growth parameters.

•   A family history suggestive of a recurrent abnormality.

•   Developmental delay/learning disability:

•   unexplained severe developmental delay/learning disability;

•   developmental delay/learning disability in conjunction with dysmorphic features/congenital anomaly/abnormal growth parameters/a family history.

•   Multiple problems and no diagnosis: child with multiple problems and under the care of many specialists with no unifying diagnosis.

•   New diagnosis of a genetic disorder:

•   enables explanation of the genetic basis of the condition;

•   essential if the diagnosis may have implications for other relatives;

•   important if parents would like advice regarding future pregnancies.

Teenager with a genetic disorder: if a genetic diagnosis was made in infancy/early childhood, refer patient back to clinical genetics in mid-teens so that the young adult understands the genetic basis of their condition and the risks to their own offspring.