Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators

• Authors: Yue Guan, Emory University; Kristin A. Maloney, University of Maryland School of Medicine; Toni I. Pollin, University of Maryland School of Medicine
• Journal Title: Journal of Genetic Counseling
• Volume: Volume 29, Number 6
• Publisher: Springer (part of Springer Nature) | 2020-12-01, Pages 1106-1113
• Type of Work: Article | Post-print: After Peer Review
• Publisher DOI: http://doi.org/10.1002/jgc4.1247
• Subjects: Biology, Genetics; Health Sciences, General
• Keywords: access; barriers; education; facilitators; genetic testing; MODY; monogenic diabetes; service delivery models

Abstract

Most monogenic diabetes is misdiagnosed as either type 1 or type 2 diabetes (T1D/T2D). Few studies have examined the diagnostic challenges from the patients’ perspective. This qualitative study aimed to investigate patients’ journeys to obtaining a diagnosis of maturity-onset diabetes of the young (MODY) by elucidating the range of factors that can act as barriers and facilitators throughout this process. We recruited participants from the Personalized Diabetes Medicine Program (PDMP) at University of Maryland and used respondent-driven sampling to recruit additional patients. We conducted qualitative phone interviews between October 2016 and June 2017 with nine patients with diagnoses of monogenic diabetes (one HNF4A-MODY, seven GCK-MODY, and one HNF1A-MODY) and one parent of a patient with INS-MODY. Interview data were audio recorded, transcribed, and analyzed both inductively and deductively using thematic content analysis. All patients were female, with a mean age of 35 (range: 7–67 years). The amount of time these patients were misdiagnosed ranged from a few months to 41 years. We identified barriers and facilitators in three broad themes: (a) patient-related (nature of MODY symptoms, perceived test utility, individual personality); (b) provider-related (provider awareness and knowledge, provider communication); and (c) healthcare system-related (cost of testing, access to knowledgeable providers, patient education, and support resources). The diverse range of barriers and facilitators reiterates the complexity of the MODY diagnostic process. Limited awareness and knowledge of MODY from healthcare professionals and patients themselves account for most diagnostic delays described in this study. Efforts to promote awareness of MODY and expand access to screening and testing may result in quicker diagnosis and ensure the downstream benefits of proper treatment.