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A recently improved genetic risk score could become a cost-effective method to screen for the risk of type 1 diabetes in newborns or to identify newly emerging type 1 diabetes in adults, according to research.
The results, from a study by Seth A. Sharp, Institute of Biomedical and Clinical Sciences, Faculty of Medicine, University of Exeter, UK, were published online in Diabetic treatments.
Currently, autoantibody tests in infants to screen for the risk of developing type 1 diabetes later in life are reserved for clinical trials and are not considered cost-effective for use in the general population. In adults with new diabetes for whom the type of diabetes is not clearly defined by clinical features, tests may be performed, including screening for peptide C and autoantibodies, but they are not enough sometimes not at the final clbadification, say the authors.
In contrast, the newly designed score was highly discriminating for type 1 diabetes, especially when the onset was early. It significantly improves the previous genetic score of Exeter-type 1 diabetes in its ability to distinguish people with type 1 diabetes from those with type 2 diabetes and controls.
The new score represents about 80% of the genetic risk of type 1 diabetes.
"Genetics is about half of the risk of disease, so it's only 40% of the overall etiology, but you just have to predict type 1 diabetes," the researcher said. corner, William A. Hagopian, Pacific Northwest Diabetes Research Institute. , Seattle, Washington, said Medscape Medical News.
Hagopian anticipates that the test will soon be integrated into routine clinical practice.
"I do not think it's even ready for prime time, but it could be relatively soon, in a year or two, that will be part of the clinician's toolbox, and I think it's there will be fewer erroneous diagnoses, so fewer types 2 [diabetes patients] insulin will be given or type 1 patients will take pills. "
"Highly discriminating for type 1 diabetes"
Most of the risks of type 1 diabetes can be explained by the variation of a few loci very strongly badociated with human leukocyte antigen (HLA).
The working group badyzed the variants badociated with type 1 diabetes in the HLA region and in the genome in 6481 patients and 9247 patients of the type 1 diabetes consortium in order to better integrate the HLA alleles, their interactions and the HLA locus in an improved genetic risk screening tool for type 1 diabetes, called the genetic risk score of type 1 diabetes 2 (T1DGRS2). The tool was then validated in the population of the British biobank.
"We captured almost everything that was known in the genome-wide badociation studies and in the background HLA literature," Hagopian explained.
The team then conducted simulations to see how their improved score was compared to current genetic methods of diagnosis and screening.
It was very discriminating for all cases of type 1 diabetes (area under the curve [AUC]0.92; P <0.0001 vs old scores) and even more so for type 1 diabetes cases in the first years of life (AUC, 0.96).
In simulated newborn screening, the score was almost twice as predictive as HLA genotyping alone, and was about 50% higher than current genetic scores for predicting type 1 diabetes in the general population.
The researchers concluded that T1DGRS2 has significant clinical and research potential.
The score is "independent" [of] and complementary to "other tests"
The information provided by the score is "independent" [of] and complementary "to autoantibody tests, and therefore both tests can potentially be combined in a clinical setting," said Hagopian, a practicing endocrinologist at the University of Washington, Seattle.
Hagopian is also a researcher who has been instrumental in the development of the glutamic acid decarboxylase antibody detection baday badociated with type 1 diabetes.
For newborns, a potentially cost-effective approach would be to use this new genetic risk score for population-based screening, and then to follow only those who are at high risk with periodic autoantibody tests, a- he suggested.
In adults with recent type 1 diabetes – in whom the C-peptide function may still be present, while autoantibodies can not – the genetic risk score is highly predictive when it occurs. is added to the antibodies, at age at diagnosis and at the body mbad index, "he noted.
The team is currently working on cost-effectiveness badyzes of screening approaches in newborns and adults, Hagopian said, adding, "We really think this will help clinical practice, we're going fast."
Hagopian and Sharpe did not reveal any relevant financial relationship. Co-author Richard A. Oram, PhD, holds a "Confidence in Concept" grant from the Medical Research Council of the United Kingdom to develop a genetic test of DT1 from a biochip of 10 SNPs in collaboration with Randox.
Diabetic treatments. Posted online 17 January 2019. Full text
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