Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer

Liljeström, Brita; Aktán-Collán, Katja; Isomaa, Bo; Sarelin, Leena; Uutela, Antti; Groop, Leif; Kääriäinen, Helena; Tuomi, Tiinamaija

doi:10.1007/s00125-004-1629-7

Cited by 10 publications

(10 citation statements)

References 28 publications

(37 reference statements)

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“…This study shows not only that patients and family members are positive about genetic testing, as previously described , but also that there is room for improvement in the care for people with MODY, as expressed by the different needs of participants. Based on the results, we make the following recommendations: (1) increase knowledge and awareness of MODY among healthcare professionals and patient organizations in order to recognize the symptoms and enable earlier diagnosis (shorter diagnostic odyssey and quicker intervention if the feeling exists that ‘something is not right’), and cascade testing; (2) improve information provision for patients and family members (e.g.…”

Section: Discussionsupporting

confidence: 63%

“…Participants indicated various expectations of genetic testing for MODY, mostly related to receiving information on prognosis including the risk of complications, more appropriate treatment and risks for children. According to the literature, reducing uncertainty is an important reason for taking a genetic test for MODY . Not all participants in our study, however, considered the test as having added value because of their well‐regulated glucose levels.…”

Section: Discussionmentioning

confidence: 87%

“…Little is known about patients' and their family members' experiences with genetic testing for MODY. The few published studies addressing motivations for genetic testing for MODY show that reducing uncertainty and clarifying the risk for children are important reasons for taking the test, both in symptomatic and asymptomatic individuals [9][10][11][12]. In the United Kingdom, qualitative interview studies by Shepherd et al showed that in HNF1A-diagnosed patients, therapy change from insulin injections to oral sulfonylureas can have both positive and negative psychological effects [13][14][15].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2015

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Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 99%

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

et al. 2015

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“…Studies investigating characteristics associated with interest in genetic testing to predict risk of developing T2D or chronic diseases that include T2D are limited. The strengths of our study are the comprehensive measures of the many psychological constructs related to behavior change[ 9 – 11 , 16 , 25 , 26 ]; and purposely recruiting individuals representing greater ethnic and socioeconomic diversity [ 9 , 16 , 25 , 26 ].…”

Section: Discussionmentioning

confidence: 99%

Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction

2016

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The purpose of this study was to identify attitudes and perceptions of willingness to participate in genetic testing for type 2 diabetes (T2D) risk prediction in the general population. Adults (n = 598) were surveyed on attitudes about utilizing genetic testing to predict future risk of T2D. Participants were recruited from public libraries (53%), online registry (37%) and a safety net hospital emergency department (10%). Respondents were 37±11 years old, primarily White (54%), female (69%), college educated (46%), with an annual income ≥$25,000 (56%). Half of participants were interested in genetic testing for T2D (52%) and 81% agreed/strongly agreed genetic testing should be available to the public. Only 57% of individuals knew T2D is preventable. A multivariate model to predict interest in genetic testing was adjusted for age, gender, recruitment location and BMI; significant predictors were motivation (high perceived personal risk of T2D [OR = 4.38 (1.76, 10.9)]; family history [OR = 2.56 (1.46, 4.48)]; desire to know risk prior to disease onset [OR = 3.25 (1.94, 5.42)]; and knowing T2D is preventable [OR = 2.11 (1.24, 3.60)], intention (if the cost is free [OR = 10.2 (4.27, 24.6)]; and learning T2D is preventable [OR = 5.18 (1.95, 13.7)]) and trust of genetic testing results [OR = 0.03 (0.003, 0.30)]. Individuals are interested in genetic testing for T2D risk which offers unique information that is personalized. Financial accessibility, validity of the test and availability of diabetes prevention programs were identified as predictors of interest in T2D testing.

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“…The main advantages of this knowledge include reduction in uncertainty over the risk of diabetes and increased efficiency in monitoring for early signs of diabetes and therefore starting treatment early for those who need it. 19 In this report, 3 patients with HNF4 α mutation and symptomatic diabetes responded to insulin therapy while the fourth managed by oral hypoglycemic agents. This agrees with previous studies, which have shown that patients with HNF4 α respond to either insulin or oral hypoglycemic agents.…”

Section: Discussionmentioning

confidence: 75%

Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis

Mohamed

Elkholy

El-Meleagy

et al. 2014

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVESThe prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown, and data on molecular etiology of this condition is limited. Therefore, the present study was undertaken to elucidate clinical and molecular characteristics of a Saudi family with MODY 1.DESIGN AND SETTINGSThis is a case series study conducted at Saad Specialist Hospital in Alkhobar, Saudi Arabia.PATIENTS AND METHODSA 12-year-old female presented to us with symptoms suggestive of diabetes. Investigations revealed hyperglycemia, glycosuria, and ketonuria without acidosis. Pancreatic antibodies were negative. She responded well to subcutaneous insulin. Her family history revealed that 2 of her siblings were diagnosed with type 1 diabetes (T1DM), while her father and mother had type 2 diabetes (T2DM). In view of this strong family history, the possibility of monogenic diabetes was raised, and the 2 genes consistent with this phenotype, hepatocyte nuclear factor-1 alpha (HNF1α) and hepatocyte nuclear factor-4 alpha (HNF4α), were studied. Accordingly, genomic DNA was isolated from peripheral blood lymphocytes of the 8 members of this family, polymerase chain reaction was carried out, and sequencing of the whole HNF4α and HNF1α genes was done.RESULTSDNA study of the proband revealed a heterozygous substitution in intron 1 (IVS1b C>T-5)(c.50–5C>T) of the HNF1α gene. This mutation was identified in other 5 members of the family.CONCLUSIONThis study alerts physicians to suspect MODY in patients who have a strongly positive family history of diabetes over a few generations with negative pancreatic antibodies and absence of ketoacidosis and obesity.

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Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer

Cited by 10 publications

References 28 publications

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

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

Factors Motivating Individuals to Consider Genetic Testing for Type 2 Diabetes Risk Prediction

Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis

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