Red Flags for Genetic and Rare Disease

The Red Flags Working Group of the Genetics in Primary Care (GPC) project created the mnemonic “Family GENES” as a red flag for genetic conditions.

This can be applied to prompt the question – “Is this a rare disease?”

FAMILY GENES 

Family history: multiple affected siblings or individuals in multiple generations. Remember that lack of a family history does NOT rule out genetic causes.

G: group of congenital anomalies. Common anatomic variations are, well, common; but two or more anomalies are much more likely to indicate the presence of a syndrome with genetic implications.

E: extreme or exceptional presentation of common conditions. Early onset cardiovascular disease, cancer, or renal failure. Unusually severe reaction to infectious or metabolic stress. Recurrent miscarriage. Bilateral primary cancers in paired organs, multiple primary cancers of different tissues.

N: neurodevelopmental delay or degeneration. Developmental delay in the paediatric age group carries a very high risk for genetic disorders. Developmental regression in children or early onset dementia in adults should similarly raise suspicion for genetic etiologies.

E: extreme or exceptional pathology. Unusual tissue histology, such as heochromoctyoma, acoustic neuroma, medullary thyroid cancer, multiple colon polyps, plexiform neurofibromas, multiple exostoses, most paediatric malignancies.

S: surprising laboratory values. Markedly abnormal pathology results.*

Baynam, Dr Gareth. (2015). A Diagnostic Odyssey – Red Flags in the Red Sand. AUSTRALIAN MEDICAL ASSOCIATION (WA). 

* Amendment made by Dr Gareth Baynam 5th December, 2016.

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