According to a new study by Sarah Finer of Queen Mary University of London, UK, and colleagues, combining a genetic risk score with a clinical risk score enhanced the prediction of type 2 diabetes in British Pakistani and British Bangladeshi people, especially in the young.
In adults with European heritage, the typical genetic alterations connected to type 2 diabetes have been thoroughly researched.
Although persons of south Asian descent are disproportionately impacted, they are also underrepresented in genetic investigations, thus it is unknown whether all prior findings apply to them.
Genes & Health, a sizable population study of British Pakistanis and British Bangladeshis, including 7,599 people with a type 2 diabetes diagnosis, provided the genomic and routine health data used in the new study.
Comparing their findings to those of other studies on European populations, the researchers discovered sizable genetic variations in the incidence of type 2 diabetes. Only 76 (22.5 percent) of the 338 genetic loci found in European populations could be transferred to the study group of British Pakistanis and British Bangladeshis.
The group then developed a type 2 diabetes polygenic risk score for the study’s participants. The tool enhanced type 2 diabetes prediction when paired with QDiabetes, a commonly used clinical risk score (OR per SD of 1.57, 95 percent CI 1.50-1.65).
Our work highlights the importance of greater representation of diverse ancestry groups in genetic studies of type 2 diabetes. Our polygenic risk score has multiple potential uses, but importantly, it helped identify young, otherwise healthy, individuals who were in fact living at high risk of type 2 diabetes, 1 in 20 of whom might have been mistakenly labelled as low risk by current clinical risk tools. Our work also shows the potential use of polygenic risk scores in characterizing distinct disease subgroups at diagnosis which have different rates of progression to diabetes complications.
Sarah Finer
The tool was particularly good at determining risk in British Pakistani and British Bangladeshi adults under 40 (net reclassification index 5.6 percent, 95 percent CI 3.6 -7.6 percent), as well as at foretelling the onset of type 2 diabetes following gestational diabetes.
Finally, the polygenic risk score helped to clarify disease subgroups that are associated with variations in the likelihood of future complications from diabetes.
“Our work highlights the importance of greater representation of diverse ancestry groups in genetic studies of type 2 diabetes,” the authors say. “Our polygenic risk score has multiple potential uses, but importantly, it helped identify young, otherwise healthy, individuals who were in fact living at high risk of type 2 diabetes, 1 in 20 of whom might have been mistakenly labelled as low risk by current clinical risk tools. Our work also shows the potential use of polygenic risk scores in characterizing distinct disease subgroups at diagnosis which have different rates of progression to diabetes complications.”
Finer adds, “We hope to see polygenic risk scores being adopted in clinical care in the future, after careful evaluation to understand their potential to improve health outcomes cost-effectively, and with diverse populations who are at greatest need.”