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

Guan, Yue; Maloney, Kristin A.; Pollin, Toni I.

doi:10.1002/jgc4.1247

Cited by 8 publications

(12 citation statements)

References 19 publications

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“…As reported in other studies 12,14 , our participants also believed that genetic testing should play a central role in diabetes diagnosis, though they expressed limiting factors to its implementation. Consistent with the findings of previous workers [15][16][17] , and as viewed by most of our respondents, perhaps institutional training and education of HCPs in genetics was inadequate. Additionally, the lack of standard biomedical infrastructure and genomic expertise in services and research are known barriers to translational genomics in African countries.…”

Section: Genetics Knowledgesupporting

confidence: 89%

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Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country

Balogun,

Naylor,

Adedokun

et al. 2024

Popul. Med.

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INTRODUCTION Maturity-Onset Diabetes of the Young (MODY) is an unusual type of diabetes often missed in clinical practice, especially in Africa. Treatment decisions for MODY depend on a precise diagnosis, only made by genetic testing. We aimed to determine MODY knowledge among Nigerian healthcare professionals (HCPs), their perceptions, and barriers to the implementation of genetic testing in diabetes patients. METHODS A cross-sectional survey was conducted among doctors and nurses in three levels of public and private healthcare institutions in Ibadan, Nigeria, from December 2018 to June 2019. In all, 70% and 30% of a total 415 participants were recruited from public and private centers, respectively. HCPs were recruited in a 60:40% ratio, respectively. A 51-item instrument was used to assess MODY knowledge, perceptions of HCPs, and barriers to the implementation of genetic testing in diabetes patients. RESULTS In the survey, 43.4% self-rated their current MODY knowledge to be at least moderate. About 68%, 73% and 86%, respectively, correctly answered 3 of 5 questions on basic genetics' knowledge. However, only 1 of 7 MODYspecific questions was answered correctly by 72.7% of the respondents. The mean basic genetics and MODY-specific knowledge scores were 2.6/5 (SD=1.0) and 1.8/9 (SD=1.3), respectively. Multiple linear regression showed higher mean scores among those aged 30-49 years, those with degrees and fellowships (except PhD), and general practitioners; 360 (80.0%) perceived that genetic testing plays a central role in diabetes care. Barriers to genetic testing were lack of access to testing facilities, guidance on the use of and updates/ educational materials on genetic testing (82.7%, 62.1% and 50.3%, respectively). CONCLUSIONS The level of MODY awareness and knowledge among Nigerian HCPs is unacceptably low with a lack of access to genetic testing facilities. These can hinder the implementation of precision diabetes medicine. Increased awareness, provision of decision support aids, and genetic testing facilities are urgently needed.

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Section: Genetics Knowledgesupporting

confidence: 89%

“…Previous studies have identified a lack of knowledge and awareness among HCPs in Western nations as one of the barriers to genetic testing for MODY 14,15 . Low MODY knowledge and awareness among HCPs may also be contributing to the underdiagnosis of MODY in Africa, including Nigeria, but this has not been investigated.…”

Section: Introductionmentioning

confidence: 99%

Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country

Balogun,

Naylor,

Adedokun

et al. 2024

Popul. Med.

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“…Importantly, patients with GCK-MODY are not at increased risk for micro- or macrovascular complications of hyperglycemia ( 10 ) and thus do not require pharmacotherapy. Rather, treatment of their diabetes is often frustrating to patients as it results in either no improvement in their blood glucose or significant hypoglycemia ( 11 ). Accurate diagnosis of this condition prevents unnecessary treatment, as microvascular complications of GCK-MODY–related diabetes are exceedingly rare ( 6 ).…”

Section: Atypical Diabetesmentioning

confidence: 99%

Atypical Diabetes: What Have We Learned and What Does the Future Hold?

Stone,

Balasubramanyam,

Posey

2024

Diabetes Care

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As our understanding of the pathophysiology of diabetes evolves, we increasingly recognize that many patients may have a form of diabetes that does not neatly fit with a diagnosis of either type 1 or type 2 diabetes. The discovery and description of these forms of “atypical diabetes” have led to major contributions to our collective understanding of the basic biology that drives insulin secretion, insulin resistance, and islet autoimmunity. These discoveries now pave the way to a better classification of diabetes based on distinct endotypes. In this review, we highlight the key biological and clinical insights that can be gained from studying known forms of atypical diabetes. Additionally, we provide a framework for identification of patients with atypical diabetes based on their clinical, metabolic, and molecular features. Helpful clinical and genetic resources for evaluating patients suspected of having atypical diabetes are provided. Therefore, appreciating the various endotypes associated with atypical diabetes will enhance diagnostic accuracy and facilitate targeted treatment decisions.

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“…Additionally, a document describing the variant identified and avenues for variant-specific testing can be provided to the patient to distribute to family members if family testing is being pursued. Upon reflecting on the diagnosis, patients may feel relief at a genetic etiology for their symptoms, while others may feel angry or annoyed if they were initially misdiagnosed and prescribed suboptimal treatment [72][73][74][75][76][77] . Feelings of frustration should be validated.…”

Section: Question 5: -How Should a Variant In A Monogenic Diabetes Ge...mentioning

confidence: 99%

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes

Murphy

Colclough

Pollin

et al. 2023

Preprint

Self Cite

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Monogenic forms of diabetes present opportunities for precision medicine as identification of the underlying genetic cause has implications for treatment and prognosis. However, genetic testing remains inconsistent across countries and health providers, often resulting in both missed diagnosis and misclassification of diabetes type. One of the barriers to deploying genetic testing is uncertainty over whom to test as the clinical features for monogenic diabetes overlap with those for both type 1 and type 2 diabetes. In this review, we perform a systematic evaluation of the evidence for the clinical and biochemical criteria used to guide selection of individuals with diabetes for genetic testing and review the evidence for the optimal methods for variant detection in genes involved in monogenic diabetes. In parallel we revisit the current clinical guidelines for genetic testing for monogenic diabetes and provide expert opinion on the interpretation and reporting of genetic tests. We provide a series of recommendations for the field informed by our systematic review, synthesizing evidence, and expert opinion. Finally, we identify major challenges for the field and highlight areas for future research and investment to support wider implementation of precision diagnostics for monogenic diabetes.

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

Cited by 8 publications

References 19 publications

Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country

Implementing genetic testing in diabetes: Knowledge, perceptions of healthcare professionals, and barriers in a developing country

Atypical Diabetes: What Have We Learned and What Does the Future Hold?

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes

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