What was once a fatal disease at the severe end of the spectrum is becoming a treatable condition with improved functional status and outcomes.

General practitioners are ideally placed to offer individuals and couples carrier screening for autosomal recessive and X-linked conditions.

This paper examines the implications for risk-rated insurance when patients of Australian general practitioners are having genetic testing, highlighting the risk of genetic discrimination.

A male engineer aged 47 years presented with multiple pinhead-sized flat red spots on his fingers and face.

General practitioners are integrating genomic testing into care, mainly through prenatal screening, and anticipate further impact.