Incorporating the score into standard testing could help diagnose 16% of patients who previously received negative genetic test results.
Incorporating a genetic risk score into standard testing for a genetic form of diabetes could identify hidden type 1 diabetes in approximately one in five patients who receive a negative genetic test result, according to research from the University of Exeter.
Researchers studied more than 1,100 individuals treated with insulin who were referred for genetic testing for Maturity-Onset Diabetes of the Young (MODY). Often diagnosed before age 25, MODY is caused by a change in a single gene and has a strong inherited component. To be diagnosed, a blood sample is tested against a panel of genes known to cause the condition; however, approximately 80% of patients receive a negative test, leaving the cause of their diabetes uncertain.
The study, published in Diabetes Care, found that applying a type 1 genetic risk score to patients with negative MODY tests identified that 16%—roughly 180 patients—actually have atypical type 1 diabetes. The genetic risk score provides a simple way to analyze risk by accounting for all known genetic risk factors.
“In clinic, it’s extremely challenging to distinguish between MODY and type 1 diabetes, yet getting the right diagnosis is crucial to getting the right treatment,” says Kashyap Patel, associate professor at the University of Exeter and consultant physician in diabetes and endocrinology, in a release. “We found that applying the type 1 genetic risk score to patients who tested negative for MODY is effective in identifying patients with type 1 diabetes, reducing the need for expensive further testing and providing answers to patients.”
Implementation in Clinical Practice
The National Health Service (NHS) will adopt this approach as part of its routine testing protocols. This implementation allows genetic laboratories to provide a diagnosis for patients whose MODY tests previously returned without an explanation, providing direct clinical impact from the research.
“We’ve demonstrated how information on genetic risk can be incorporated into an established NHS genetic testing pathway to provide additional diagnostic information when testing is negative,” says Kevin Colclough, lead clinical scientist for the Exeter MODY testing service at the Royal Devon University Healthcare NHS Foundation Trust, in a release. “This will be a significant quality improvement to our service, providing clinicians with a more informative result and helping to reduce diagnostic uncertainty for their patients.”
Dr Alison Evans, consultant physician in diabetes and endocrinology at Gloucestershire Hospitals NHS Foundation Trust, notes that the ability to differentiate between common type 1 diabetes and uncommon forms is invaluable for optimizing individualized treatment. She says the use of risk scores is helpful in focusing clinical care in cases involving diagnostic uncertainty.
“An accurate diagnosis is crucial to ensure that people with diabetes get the right treatment and support,” says Anna Morris, assistant director of research at Diabetes UK, in a release. “Yet for some people, existing tests do not clearly define the type of diabetes they have. This can leave them without clear answers and affect their care. This research shows how genetic approaches could help identify people with type 1 diabetes, reducing uncertainty for patients and clinicians and helping inform the most appropriate care.”
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