Monogenic diabetes accounts for 2-5% of all diabetes and has clear treatment implications. For example, GCK-hyperglycaemia typically allows cessation of all treatment/monitoring, and HNF1A/HNF4A-diabetes is exquisitely sensitive to sulfonylureas which often obviate the need for insulin. A molecular diagnosis can also guide family planning, cascade testing and surveillance for other manifestations. Despite the frequency and significance of monogenic diabetes, >80% of cases are missed. This relates to the complexity of genetic testing in monogenic diabetes, the varied and overlapping phenotypes between monogenic diabetes subtypes and with other forms of diabetes, and access to testing, although the latter is rapidly improving.
Noting these missed opportunities in diabetes care in Australasia, a collaboration was formed in 2023 between the Australian Diabetes Society (ADS), Endocrine Society of Australia (ESA), Human Genetics Society of Australasia (HGSA), New Zealand Society for the Study of Diabetes (NZSSD) and Royal College of Pathologists of Australasia (RCPA) to generate world-first guidelines on genetic testing for monogenic diabetes in adults. Coinciding with publication of this joint society consensus statement in the Medical Journal of Australia, this talk will outline testing recommendations along with their evidence base and implications for day-to-day practice.