In the US, genetic testing for MODY is frequently delayed due to difficulty with insurance coverage. Understanding the economic implications of clinical genetic testing is imperative to advance precision medicine for diabetes. The objective of this paper is to assess the cost-effectiveness of genetic testing, preceded by biomarker screening and followed by cascade genetic testing of first-degree relatives, for subtypes of MODY in US pediatric patients with diabetes. Research Design and Methods: We used simulation models of distinct forms of diabetes to forecast the clinical and economic consequences of a systematic genetic testing strategy compared to usual care over a 30-year time horizon. In the genetic testing arm, patients with MODY received treatment changes (sulfonylureas for HNF1A-/HNF4A-MODY associated with a 1.0% reduction in HbA1c; no treatment for GCK-MODY). Study outcomes included costs, life expectancy (LE), and quality-adjusted life years (QALY). Results: The strategy of biomarker screening and genetic testing was cost-saving as it increased average quality of life (+0.0052 QALY) and decreased costs (-$191) per simulated patient relative to the control arm. Adding cascade genetic testing increased quality of life benefits (+0.0081 QALY) and lowered costs further (-$735). Conclusions: A combined strategy of biomarker screening and genetic testing for MODY in the US pediatric diabetes population is cost-saving compared to usual care, and the addition of cascade genetic testing accentuates the strategy's benefits. Widespread implementation of this strategy could improve the lives of patients with MODY while saving the health system money, illustrating the potential population health benefits of personalized medicine.
Old order Amish and Mennonites, or Plain populations, are a growing minority in North America with unique health care delivery and access challenges coupled with higher frequencies of genetic disorders. The objective of this study was to determine newborn screening use and attitudes from western Wisconsin Plain communities. A cross-sectional survey, with an overall response rate of 25%, provided data representing 2,010 children. In households with children (n=297), the rate of newborn screening was 74% and all children were screened in 40% of these households. Lack of access to testing was the most common reason for not screening all children and parental age was inversely associated with testing. The majority of respondents reported some or more knowledge of screening, viewed screening as important, and had access to screening in their communities. Households with children who had never received newborn screening (26%) reported lower frequencies of favorable responses in all categories compared to households that had at least one child screened. The difference in access to newborn screening was less marked between the groups compared to differences on knowledge and consideration of its importance. Moreover, 55% of households who had never screened any of their children reported being unlikely or unsure of screening any future children. A focus on improving access to newborn screening alongside establishing approaches to change parental perceptions on the importance of newborn screening is necessary for increasing newborn screening in these Plain communities.
Aim To evaluate the U.S. population-level impact of two alternatives for initial type 2 diabetes screening [opportunistic random plasma glucose (RPG) > 6.7 mmol/l and a 1-h 50-g glucose challenge test (GCT) > 8.9 mmol/l] compared with American Diabetes Association (ADA)-recommended tests. Methods Using a sample (n = 1471) from the National Health and Nutrition Examination Survey (NHANES) 2013-2014 that represented 145 million U.S. adults at high risk for developing type 2 diabetes, we simulated a two-test screening process. We compared ADA-recommended screening tests [fasting plasma glucose (FPG), 2-h 75-g oral glucose tolerance test (OGTT), HbA 1c ] vs. initial screening with opportunistic RPG or GCT (followed by FPG, OGTT or HbA 1c). After simulation, participants were entered into an individual-level Monte Carlo-based Markov lifetime outcomes model. Primary outcomes were representative number of U.S. adults correctly identified with type 2 diabetes, societal lifetime costs and quality-adjusted life years (QALYs). Results In NHANES 2013-2014, 100 individuals had undiagnosed diabetes [weighted estimate: 8.4 million, standard error (SE): 1.1 million]. Among ADA-recommended screening tests, FPG followed by OGTT (FPG-OGTT) was most sensitive, identifying 35 individuals with undiagnosed diabetes (weighted estimate: 3.2 million, SE: 0.9 million). Four alternative screening strategies performed superior to FPG-OGTT, with RPG followed by OGTT being the most sensitive overall, identifying 72 individuals with undiagnosed diabetes (weighted estimate: 6.1 million, SE: 1.0 million). There was no increase in average lifetime costs and comparable QALYs. Conclusions Initial screening using opportunistic RPG or a GCT may identify more U.S. adults with type 2 diabetes without increasing societal costs.
The biomineralization of intracellular magnetite in magnetotactic bacteria (MTB) is an area of active investigation. Previous work has provided evidence that magnetite biomineralization begins with the formation of an amorphous...
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