A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members

Diabetic Medicine : a Journal of the British Diabetic Association
Astrid BosmaLidewij Henneman

Abstract

Genetic testing for maturity-onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for improving care, this study explores the experiences of patients and family members who have been genetically tested for MODY. Fourteen semi-structured interviews with patients and the parents of patients, and symptomatic and asymptomatic family members were conducted. Atlas.ti was used for thematic analysis. Most people with MODY were initially misdiagnosed with Type 1 or Type 2 diabetes; they had been seeking for the correct diagnosis for a long time. Reasons for having a genetic test included reassurance, removing the uncertainty of developing diabetes (in asymptomatic family members) and informing relatives. Reasons against testing were the fear of genetic discrimination and not having symptoms. Often a positive genetic test result did not come as a surprise. Both patients and family members were satisfied with the decision to get tested because it enabled them to adjust their lifestyle and treatment accordingly. All participants experienced...Continue Reading

References

Jan 22, 2000·BMJ : British Medical Journal·C PopeN Mays
May 2, 2000·Qualitative Health Research·M ShepherdA C Sparkes
Oct 25, 2003·Lancet·Ewan R PearsonAndrew T Hattersley
May 14, 2004·Clinical Medicine : Journal of the Royal College of Physicians of London·Maggie Shepherd, Andrew T Hattersley
Feb 26, 2008·Diabetologia·S EllardUNKNOWN European Molecular Genetics Quality Network (EMQN) MODY group
Feb 28, 2008·Nature Clinical Practice. Endocrinology & Metabolism·Rinki MurphyAndrew T Hattersley
Jan 8, 2009·Diabetic Medicine : a Journal of the British Diabetic Association·G SpyerA T Hattersley
Apr 25, 2009·Diabetic Medicine : a Journal of the British Diabetic Association·M ShepherdA T Hattersley
Jun 12, 2010·Diabetic Medicine : a Journal of the British Diabetic Association·M A StoneK Khunti
Jul 20, 2010·Diabetic Medicine : a Journal of the British Diabetic Association·M Shepherd
Feb 13, 2014·European Journal of Human Genetics : EJHG·Kevin ColcloughChristine Bellanné-Chantelot
Apr 10, 2014·Clinical Medicine : Journal of the Royal College of Physicians of London·M ShepherdA T Hattersley
Apr 17, 2014·European Journal of Human Genetics : EJHG·Stephanie S WeinreichMartina C Cornel

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Citations

Oct 16, 2015·Current Diabetes Reports·Jeffrey W Kleinberger, Toni I Pollin
May 31, 2018·Current Opinion in Pediatrics·Anastasia G HarrisSiri Atma W Greeley

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