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Unlocking Genetic Insights: Impact on HbA1c Accuracy in South Asian Populations

Cutting-edge research from Queen Mary University London has shed light on a genetic variant prevalent in South Asian individuals, significantly impacting the accuracy of the HbA1c test, a cornerstone in diabetes diagnosis and management.


In a study led by Dr. Miriam Samuel and her team, genetic data from over 60,000 individuals of Bangladeshi or Pakistani descent in England, alongside data from the UK Biobank comprising 500,000 participants of diverse ethnic backgrounds, was meticulously analyzed.


Key Findings


1. Genetic Variant Prevalence: The study unearthed a genetic variant present in 7.6% of South Asian individuals, contrasting sharply with its rarity in other ethnic groups.

2. Impact on HbA1c Accuracy: Individuals carrying this variant may receive HbA1c results underestimating their average blood sugar levels by up to 6 mmol/mol. This discrepancy arises due to alterations in red blood cells, directly influencing test outcomes.

3. Delayed Diabetes Diagnosis: Evidence suggests that individuals harboring the variant face delayed diagnosis of type 2 diabetes by one to two years, potentially impeding timely intervention and management.


Dr Miriam Samuel at Queen Mary University London reflects:


“Many genetic variants linked to red blood cell conditions are ultra-rare amongst the Northern Europeans who have historically dominated genetic studies. We demonstrate one such variant that is carried by 7.6% of South Asians which could affect the accuracy of HbA1c and cause delays in diabetes diagnosis. Studies such as Genes & Health, focusing on populations who are underserved in genetic research, are vital to understand the different pathways that may contribute to diabetes inequalities in these communities.”


South Asian woman

Implications


The implications of these findings are profound, particularly given the significant South Asian diaspora in England. With over 2.3 million individuals of South Asian descent living with Canada, 16% of which have diabetes according to Diabetes Canada, the impact of inaccurate HbA1c results cannot be overstated.


Furthermore, this research underscores the imperative for diverse representation in genetic studies to elucidate nuanced health disparities among different ethnic groups.


Moving Forward


The study advocates for a nuanced approach to diabetes screening in South Asian populations, emphasizing the necessity of complementary tests, such as fasting glucose and oral glucose tolerance tests, to ensure accurate diagnosis and optimal management.

In conclusion, this groundbreaking research serves as a clarion call for precision medicine approaches tailored to the unique genetic makeup of diverse populations, fostering equitable healthcare outcomes for all.


This research will be presented at the Diabetes UK Conference



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