A genetic diagnosis of maturity‐onset diabetes of the young (<scp>MODY</scp>): experiences of patients and family members

Bosma, A. R.; Rigter, Tessel; Weinreich, S.; Cornel, Martina C.; Henneman, Lidewij

doi:10.1111/dme.12742

Cited by 13 publications

(13 citation statements)

References 25 publications

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“…Parents receiving no diagnosis vacillated between accepting that they have to continue living with uncertainty and longing for a continuation of research in order to receive a diagnosis at a later stage. Whereas most of these experiences cohere with previous studies in the context of rare genetic syndromes (Bosma et al 2015; Brooks-Howell 2006; Graungaard and Skov 2006; Hallberg et al 2010; Reiff et al 2012; Skirton 2001; Webb 2005), they have not been studied in a largely unselected patient cohort with a presumed genetic disease. For example, the likelihood of these patients receiving a genetic diagnosis using WES was much greater than when testing for genetic syndromes by gene-specific Sanger sequencing tests.…”

Section: Discussionsupporting

confidence: 72%

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Krabbenborg

Vissers

Schieving

et al. 2016

Journal of Genetic Counseling

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The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

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Section: Discussionsupporting

confidence: 72%

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Krabbenborg

Vissers

Schieving

et al. 2016

Journal of Genetic Counseling

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“…This impacts negatively on the quality of clinical care, with patients likely to receive suboptimal or inappropriate treatment, including insulin with no resulting improvement in outcomes. Bosma et al noted that MODY patients and their families were disappointed by the lack of knowledge, guidance and advice about MODY from health professionals [19]. The patients themselves also were often not surprised with being diagnosed with an atypical form of diabetes ie non-type 1 and non-type 2 as they discerned differences as compared with those affected by Type 1 and Type 2 diabetes.…”

Section: Algorithmsmentioning

confidence: 99%

Screening for monogenic diabetes in primary care

Baldacchino

Pace

Vassallo

2020

Primary Care Diabetes

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“…Multiple studies have demonstrated the improved patient experience resulting from a genetic diagnosis of MODY. (16, 19, 20) A recent study modeling the cost-effectiveness of MODY genetic testing in all type 2 diabetes patients determined that the practice would surpass the cost-effectiveness thresholds that are used for resource-allocation decisions. (21) In addition to the benefits of MODY genetic testing, genetic diagnoses for KCNJ11 or ABCC8 mutations in most NDM patients allows them to transition from insulin injections to high-dose sulfonylureas, which have dramatic effects on glycemic control.…”

Section: Importance Of Genetic Mody Diagnosismentioning

confidence: 99%

Undiagnosed MODY: Time for Action

2015

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Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes that accounts for at least 1% of all cases of diabetes mellitus. MODY classically presents as non-insulin requiring diabetes in lean individuals younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95% of MODY cases in the U.S. are misdiagnosed. MODY prevalence and characteristics have been well-studied in some populations, such as the UK and Norway, while other ethnicities, like African and Latino, need much more study. Emerging next-generation sequencing methods are making more widespread study and clinical diagnosis increasingly feasible. This review will cover the current epidemiological studies of MODY and barriers and opportunities for moving toward a goal of access to an appropriate diagnosis for all affected individuals.

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

Abstract: Patients and family members are generally positive about genetic testing for MODY. More education of healthcare professionals and attention on the part of diabetes organizations is needed to increase awareness and optimize care and support for people with MODY.

Cited by 13 publications

References 25 publications

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Screening for monogenic diabetes in primary care

Undiagnosed MODY: Time for Action

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