Improving patient care in monogenic diabetes through research and education

Abstract

The 2019 Arnold Bloom lecture reviewed the progress in monogenic diabetes since the start of the service in Exeter in 1995 to present day. The impact of a correct molecular genetic diagnosis has been profound for many patients who have been able to stop insulin injections even after many years on this treatment. However, there remain many patients who are still not correctly diagnosed and long delays between initial diabetes diagnosis and correct genetic diagnosis remain. Raising awareness of monogenic diabetes across the UK has been aided by a national network of genetic diabetes nurses (GDNs). GDNs educate health care professionals about genetic forms of diabetes and are able to provide advice to patients and their families following a positive genetic diagnosis. Challenges in the management of monogenic diabetes still remain. Systematic approaches are being instigated to ensure correct molecular genetic diagnosis is made as close to the initial diabetes diagnosis as possible, and research is being undertaken to identify what support is needed for those receiving ‘unexpected’ genetic results. Management of monogenic diabetes pregnancy can be complex as many women with the most common forms of monogenic diabetes are best treated with sulphonylureas outside pregnancy and fetal genotype can affect birthweight so there are a number of issues to consider. Future management of pregnancy in these cases may be aided by use of cell free fetal DNA testing. Further information on monogenic diabetes can be found at www.diabetesgenes.org. Copyright © 2019 John Wiley & Sons.