Type 1 Diabetes Genetic Risk Score Diagnostic Tool Paper

Type 1 Diabetes Genetic Risk Score Diagnostic Tool Paper

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Benchmark Assignment: Type 1 Diabetes Genetic Risk Score Diagnostic Tool

Grand Canyon University: NSG-410V

Benchmark Assignment: Type 1 Diabetes Genetic Risk Score Diagnostic Tool

According to the Patel & Macerollo (2010) the prevention and timely diagnosis for diabetes mellitus is important as it can facilitate expedited treatment options; given the vast amounts of complications associated with such a diagnosis such as neuropathy, retinopathy, nephropathy, cardiovascular disease, stroke and death it is of the utmost important to not delay appropriate treatments. At current most, diagnosis methods for diabetes are based on the measurement of the A1C level, and/or a fasting/ random blood glucose level or an oral glucose tolerance test. Further challenges exist given the increasing rates of obesity among young adults in differentiating between type 1 and type 2 diabetes, however during a recent study there has been substantial progress made in the focus of common genetic variants to type 1 diabetes and type 2 diabetes that can aid in the earlier recognition of diabetes in young adults (Oram et al, 2016). NRS410 Type 1 Diabetes Genetic Risk Score Diagnostic Tool Paper

The aim of the research was to focus on a means to address the challenges that are faced given the rising obesity rates in young adults that make it increasingly more difficult to distinguish between type 1 and type 2 diabetes. Current diagnostic tests used to distinguish between type 1 and type 2 have limitations and determining the correct diagnosis is essential because the treatment options differ greatly between type 1 and type 2 diabetes. Given this conundrum the researchers looked to focus their attention on developing a variant tool that would focus on the strong genetic components to type 1 and type 2 diabetes susceptibility by measuring a single nucleotide polymorphism (SNP) genotype (Oram et al, 2016). The way that it works is by genotyping the HLA region that contains several strong risk and protective alleles for type 1 diabetes as well as genotyping the non-HLA variants which when greater than 40 SNP has been robustly associated with type 1 diabetes. This genotyping of both the HLA and non-HLA SNP has shown better predictive results for type 1 diabetes in the islet autoantibodies both in type 1 diabetes parents’ offspring and/or subjects with a high-risk HLA genotype in comparison to measuring the HLA alone (Oram et al, 2016). NRS410 Type 1 Diabetes Genetic Risk Score Diagnostic Tool Paper

The main goal of the study was to develop a simple genetic risk score that would be inexpensive in the diagnosing and classification of diabetes. The study developed a genetic risk score from published type 1 diabetes and type 2 diabetes variants, and first tested to see if whether a score could distinguish clinically between defined type 1 diabetes and type 2 diabetes utilizing a Wellcome Trust Case Control Consortium study. This study utilizes data obtained between a collaboration of over 50 research groups based within the United Kingdom that focuses on the field of human genetics. For this study it based its findings off of clinical features where subjects had all been previously diagnosed as type 1 diabetics prior to age 17 and treated with insulin at the time of diagnosis. Whereas the type 2 diabetics were all diagnosed between the age of 25 and 75 and negative in their autobody testing and treated with either controlled diet and/or hypoglycemic medications. It then evaluated if the scores correctly classified young adults between the ages of 20 and 40 who are the most challenging age group to diagnosis in clinical practice and who typically progress to sever insulin deficiency in less than 3 years. NRS410 Type 1 Diabetes Genetic Risk Score Diagnostic Tool Paper

The clinical findings concluded that the study was able to effectively discriminate between type 1 and type 2 diabetics by utilizing common SNP genotypes that correctly identify individuals whom may suffer from rapidly developing and severe insulin deficiency (Oram et al, 2016). Not only has it been shown to be effective in the classification of difficult to differentiate diabetic it has also been shown to be relatively simple, accurate and inexpensive, as the genotyping can be obtained from just nine SNP’s and new technologies are being developed to make it even more inexpensive and accessible. As it relates as a diagnostic tool it provides a great resource for providers and nurses in the treatment of diabetic patients, by having a highly accurate and inexpensive tool will allow difficult to diagnosis diabetics access to faster and more appropriate treatment protocols. This in turn can allow for decreased hospitalization, easier and more efficient nursing care management of diabetic care and potentially decreased secondary side effects such as neuropathy, nephropathy and ulcer formation to name a few. Additionally, this tool would greatly assist nurses in the delivery of care, as nurses are often the first healthcare team members to interact with patients as well as assist with the application of specialized knowledge, training and skills to help motivate diabetic patients. With the help of this new diabetic diagnostic method, diabetics will be more efficiently and properly treated, as well as will require less extensive nursing care and will be able to live more productive lifestyles. Finally, nurses armed with the knowledge of this diagnostic tool will be better situated to fill the gaps and improve efficiency in diabetic related healthcare by educating the patients to the options available to them and assisting with self-management of care and advocacy for the diabetic patients.

References:

Oram, R., Patel, K., Hill, A., Shields, B., McDonald. T., Jones. A., Hattersley, A & Weedon, M. (2016). A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care. 39(3). 337-344. Doi: https://doi.org/10.2337/dc15-1111

Patel, P. & Macerollo, A. (2010). Diabetes Mellitus: Diagnosis and Screening. American Family Physician. 81(7).863-870. Retrieved from https://www.aafp.org/afp/2010/0401/p863.html