Study Reveals Misdiagnosis of Type 1 Diabetes in British South Asians

A new study has uncovered significant misclassification of type 1 diabetes (T1D) among British Pakistani and Bangladeshi communities, raising concerns about the risks of incorrect diagnoses in these populations. The research, published in Scientific Reports, highlights how genetic tools like polygenic risk scores (PRSs) can address this challenge and improve patient outcomes.

Key Findings

The study analyzed health records from over 38,000 individuals in the Genes & Health cohort, revealing that up to 6% of cases with ambiguous clinical features were misclassified as type 2 diabetes (T2D). Among those explicitly recorded as T2D in health records, the misclassification rate dropped to 4.5%.

Misdiagnosis often leads to inappropriate treatments, such as prescribing oral medications for patients who actually require insulin. Researchers warned that this could result in severe complications, including diabetic ketoacidosis and long-term damage due to poorly managed blood sugar levels.

Why Misclassification Happens

Diagnosing T1D and T2D in South Asians is particularly complex due to overlapping symptoms and the early onset of T2D in these populations. Conventional diagnostic markers, such as body mass index (BMI) and age of onset, are often unreliable. The study emphasized that these clinical features alone are insufficient to distinguish between T1D and T2D, especially in cases with ambiguous characteristics.

Genetics Offers New Solutions

The researchers used PRSs—genetic tools that calculate an individual’s risk for developing specific conditions—to estimate the likelihood of T1D. Despite being developed for European populations, these tools performed well in identifying T1D cases in South Asians when adjusted for genetic ancestry.

“This study shows the importance of integrating genetic data with clinical care to improve accuracy in diabetes diagnoses,” said Dr. Sarah Finer, one of the study’s lead authors.

Call for Routine Testing

The study calls for routine use of specialized tests, such as C-peptide measurements and diabetes autoantibody testing, to complement clinical evaluations. These tests, which are currently not widely adopted in the UK’s healthcare system, can help accurately classify diabetes types, particularly in South Asian patients.

Implications for Healthcare

Misdiagnosis of diabetes has far-reaching consequences, from poor disease management to heightened risks of emergencies and complications. The authors urged policymakers to update clinical guidelines and prioritize the use of genetic and biochemical testing in primary care settings, particularly for communities at higher risk.

What’s Next?

The findings shed light on the broader issue of health disparities among minority groups in the UK and underscore the need for tailored healthcare solutions. With diabetes rates in British South Asians being twice as high as in the local White population, precision medicine approaches could be a game-changer in addressing these challenges.

This study, supported by institutions including the Wellcome Trust and NHS Clinical Research Network, marks a significant step toward improving diabetes care in diverse populations.

For further details, the full report is available in Scientific Reports: https://www.nature.com/articles/s41598-024-80348-8