Literature DB >> 30919097

Economics of Genetic Testing for Diabetes.

Rochelle Naylor1.   

Abstract

PURPOSE OF REVIEW: Monogenic diabetes is an uncommon but important form of diabetes, with the most common causes benefitting from management that accounts for the genetic mutation. This often results in decreased costs and treatment burden for affected individuals. Misdiagnosis as type 1 and type 2 diabetes is common. Given the significant burden of diabetes costs to the healthcare system, it is important to assess the economic impact of incorporating genetic testing for monogenic diabetes into clinical care through formal cost-effectiveness analyses (CEAs). This article briefly summarizes the barriers to timely monogenic diabetes diagnosis and then summarizes findings from CEAs on genetic testing for monogenic diabetes. RECENT
FINDINGS: CEAs have shown that routine genetic testing of all patients with a clinical diagnosis of type 1 diabetes can be cost-saving when applied to the scenarios of neonatal diabetes or in a pediatric population. Routine screening has not been shown to be cost-effective in adult populations. However, next-generation sequencing strategies and applying biomarkers to identify and limit genetic testing to people most likely to have monogenic diabetes are promising ways to make testing strategies cost-effective. CEAs have shown that genetic testing for monogenic diabetes diagnosis can be cost-effective or cost-saving and should guide insurers to consider broader coverage of these tests, which would lead to accurate and timely diagnosis and impact treatment and clinical outcomes.

Entities:  

Keywords:  CEA; Cost-effectiveness; Genetic testing; MODY; Monogenic diabetes

Mesh:

Year:  2019        PMID: 30919097      PMCID: PMC6886700          DOI: 10.1007/s11892-019-1140-7

Source DB:  PubMed          Journal:  Curr Diab Rep        ISSN: 1534-4827            Impact factor:   4.810


  32 in total

1.  Management of hyperglycaemia in type 2 diabetes: a patient-centered approach. Position statement of the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

Authors:  S E Inzucchi; R M Bergenstal; J B Buse; M Diamant; E Ferrannini; M Nauck; A L Peters; A Tsapas; R Wender; D R Matthews
Journal:  Diabetologia       Date:  2012-04-20       Impact factor: 10.122

Review 2.  Health outcomes in economic evaluation: the QALY and utilities.

Authors:  Sarah J Whitehead; Shehzad Ali
Journal:  Br Med Bull       Date:  2010-10-29       Impact factor: 4.291

3.  What does the value of modern medicine say about the $50,000 per quality-adjusted life-year decision rule?

Authors:  R Scott Braithwaite; David O Meltzer; Joseph T King; Douglas Leslie; Mark S Roberts
Journal:  Med Care       Date:  2008-04       Impact factor: 2.983

4.  Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore.

Authors:  Hai Van Nguyen; Eric Andrew Finkelstein; Shweta Mital; Daphne Su-Lyn Gardner
Journal:  J Med Genet       Date:  2017-08-23       Impact factor: 6.318

5.  Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes.

Authors:  E R Pearson; W G Liddell; M Shepherd; R J Corrall; A T Hattersley
Journal:  Diabet Med       Date:  2000-07       Impact factor: 4.359

6.  Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Authors:  Kevin Colclough; Christine Bellanne-Chantelot; Cecile Saint-Martin; Sarah E Flanagan; Sian Ellard
Journal:  Hum Mutat       Date:  2013-04-02       Impact factor: 4.878

7.  Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes.

Authors:  Jaime L Peters; Rob Anderson; Chris Hyde
Journal:  BMJ Open       Date:  2013-05-28       Impact factor: 2.692

8.  Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.

Authors:  Anna M Steele; Beverley M Shields; Kirsty J Wensley; Kevin Colclough; Sian Ellard; Andrew T Hattersley
Journal:  JAMA       Date:  2014-01-15       Impact factor: 56.272

9.  Personalized management of hyperglycemia in type 2 diabetes: reflections from a Diabetes Care Editors' Expert Forum.

Authors:  Itamar Raz; Matthew C Riddle; Julio Rosenstock; John B Buse; Silvio E Inzucchi; Philip D Home; Stefano Del Prato; Ele Ferrannini; Juliana C N Chan; Lawrence A Leiter; Derek Leroith; Ralph Defronzo; William T Cefalu
Journal:  Diabetes Care       Date:  2013-06       Impact factor: 19.112

10.  Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia.

Authors:  Amanda Stride; Beverley Shields; Olivia Gill-Carey; Ali J Chakera; Kevin Colclough; Sian Ellard; Andrew T Hattersley
Journal:  Diabetologia       Date:  2013-10-04       Impact factor: 10.122

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  7 in total

1.  Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

Authors:  Wendy K Chung; Karel Erion; Jose C Florez; Andrew T Hattersley; Marie-France Hivert; Christine G Lee; Mark I McCarthy; John J Nolan; Jill M Norris; Ewan R Pearson; Louis Philipson; Allison T McElvaine; William T Cefalu; Stephen S Rich; Paul W Franks
Journal:  Diabetologia       Date:  2020-09       Impact factor: 10.122

Review 2.  Monogenic diabetes: a gateway to precision medicine in diabetes.

Authors:  Haichen Zhang; Kevin Colclough; Anna L Gloyn; Toni I Pollin
Journal:  J Clin Invest       Date:  2021-02-01       Impact factor: 14.808

3.  Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.

Authors:  Serena Pezzilli; Tommaso Mazza; Maria Giovanna Scarale; Yaling Tang; Francesco Andreozzi; Marco Giorgio Baroni; Raffaella Buzzetti; Maria Gisella Cavallo; Efisio Cossu; Paola D'Angelo; Salvatore De Cosmo; Olga Lamacchia; Frida Leonetti; Susanna Morano; Lelio Morviducci; Giuseppe Penno; Paolo Pozzilli; Giuseppe Pugliese; Giorgio Sesti; Alessandro Doria; Vincenzo Trischitta; Sabrina Prudente
Journal:  Acta Diabetol       Date:  2022-02-03       Impact factor: 4.087

4.  Genetic Spectrum of Neonatal Diabetes.

Authors:  M Kocova
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519

Review 5.  Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.

Authors:  Isaac T W Harley; Kristen Allison; R Hal Scofield
Journal:  Front Immunol       Date:  2022-08-24       Impact factor: 8.786

6.  MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.

Authors:  Tiago da Silva Santos; Liliana Fonseca; Sílvia Santos Monteiro; Diana Borges Duarte; Ana Martins Lopes; André Couto de Carvalho; Maria João Oliveira; Teresa Borges; Francisco Laranjeira; María Luz Couce; Maria Helena Cardoso
Journal:  Endocrinol Diabetes Metab       Date:  2022-07-12

7.  Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.

Authors:  Maria I Alvelos; Catarina I Gonçalves; Eduarda Coutinho; Joana T Almeida; Margarida Bastos; Maria L Sampaio; Miguel Melo; Sofia Martins; Isabel Dinis; Alice Mirante; Leonor Gomes; Joana Saraiva; Bernardo D Pereira; Susana Gama-de-Sousa; Carolina Moreno; Daniela Guelho; Diana Martins; Carla Baptista; Luísa Barros; Mara Ventura; Maria M Gomes; Manuel C Lemos
Journal:  J Clin Med       Date:  2020-01-20       Impact factor: 4.241

  7 in total

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