Professor Maggie Shepherd – impact of a genetic diabetes diagnosis on patients and their families

Professor Maggie Shepherd – impact of a genetic diabetes diagnosis on patients and their families

January 5, 2020 0 By Bertrand Dibbert


I’m Maggie Shepard, Honorary Clinical
Professor of monogenic diabetes. My research has focused on the impact of a
genetic diabetes diagnosis for patients and their families, ensuring patients
have the correct diabetes diagnosis and that these findings are translated into
clinical care. Many patients with monogenic diabetes are initially
misdiagnosed as having type 1 or type 2, but have been able to stop insulin
injections, were changed treatment as a consequence of getting the correct
genetic diagnosis. I’ve investigated the impact of receiving a genetic diagnosis
and followed up patients who’ve been able to change treatment, and shown
there’s no deterioration in glycemic control but patients have improved
quality of life. It became obvious that education of
healthcare professionals across the UK in recognising monogenic forms of
diabetes was needed. So I set up the National Genetic Diabetes Nurse Project
which trains experienced diabetes specialist nurses in monogenic diabetes.
These nurses raise awareness of genetic forms of diabetes across the UK,
increasing the numbers of patients referred for genetic testing and
supporting patients through treatment change. Working with the monogenic
diabetes team in Exeter has been a fantastic opportunity to see
multidisciplinary teams working together to improve patient care through
world-class research, and I’m privileged to have been part of it.