Maternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes

Kerruish, Nicola; Campbell-Stokes, Priscilla; Gray, Andrew; Merriman, Tony R.; Robertson, Stephen P.; Taylor, B. J.

doi:10.1542/peds.2006-1381

Cited by 29 publications

(37 citation statements)

References 67 publications

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“…A full description of the KEA study protocol has been published elsewhere. 11 The KEA study itself was discontinued after 3 years due to lack of ongoing funding: at this stage all families of children with increased genetic risk were offered annual antibody surveillance (the appearance of diabetes-related autoantibodies in genetically susceptible young children is highly predictive of future development of T1D). 12 One child in the cohort developed single-antibody positivity and has been entered into TrialNet.…”

Section: Methodsmentioning

confidence: 99%

“…11,14 The study described here forms part of a comprehensive continuation of this arm that aims to investigate later psychosocial effects. This article describes data from a single interview conducted with mothers of children at increased genetic risk for T1D 12-13 years after newborn testing.…”

Section: Psychosocial Effects Arm Of the Kea Studymentioning

confidence: 99%

“…10,11 However, even these reports are limited to effects in infancy and, given recent calls to incorporate a more longitudinal approach, 9 the study reported here aims to provide exploratory data concerning later effects through qualitative interviews with parents 12 years after newborn testing for T1D.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

Kerruish

2016

Genetics in Medicine

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Section: Methodsmentioning

confidence: 99%

Section: Psychosocial Effects Arm Of the Kea Studymentioning

confidence: 99%

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Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

Kerruish

2016

Genetics in Medicine

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“…22 The above mentioned misinterpretation of negative HLA findings opens the question whether parents correctly understand the results of HLA-typing for CD and of susceptibility genetic testing in general. 23 Paradoxical risk interpretation of genetic testing has also been reported in newborn screening for type 1 diabetes, 14 with 10% of mothers overestimating or underestimating the risk. It is also known that processing statistical information is often difficult for people and that interpretation of results may be dependent on several factors, such as personal and cultural opinions.…”

Section: Discussionmentioning

confidence: 99%

Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families

Wessels

Vriezinga

Koletzko³

et al. 2014

Eur J Hum Genet

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on behalf of the PreventCD study groupDue to the association of coeliac disease and HLA-specificities DQ2 and DQ8, HLA-typing can be used for risk determination of the disease. This study was designed to evaluate the knowledge of parents from coeliac families regarding HLA-typing and the impact of HLA-typing on the perception of the health of their children. A structured questionnaire was sent to the Dutch, Spanish and German parents participating with their child in the European PreventCD study on disease prevention in high-risk families, addressing parents' understanding of and attitude towards HLA-typing, distress related to HLA-typing and perceived health and health-related quality of life of their children. Sixty-eight percent of parents of 515 children returned the questionnaires, with 85% of children being DQ2/DQ8 positive. The majority of all parents answered the questions on knowledge correctly. Forty-eight percent of parents of DQ2/DQ8-negative children thought their child could develop coeliac disease. More distress was reported by parents of DQ2/DQ8-positive children (Po0.001). All parents showed few regrets and would repeat HLA-typing in future children. Perceived health and health-related quality of life were similar. In conclusion, we can say that misinterpretation of DQ2/DQ8-negative results by parents is frequent. DQ2/DQ8-positive results do not affect perceived health and health-related quality of life of children but may cause temporary negative feelings among parents. Parents of coeliac families seem to support HLA-typing. INTRODUCTIONCoeliac disease (CD) is the most common intolerance to a dietary component in children and adults. 1 In genetically predisposed individuals, CD is precipitated by the ingestion of gluten, which are storage proteins in wheat (gliadin), rye (secalin) and barley (hordein). 1,2 T-cells in the lamina propria of the small intestines recognize the gluten peptides when they are bound to the human leukocyte antigen (HLA) class II specificities DQ2 and/or DQ8 on antigen-presenting cells. 2 Screening for CD can be done by measuring CD-specific antibodies against the enzyme tissue transglutaminase type 2, endomysium and deamidated gliadin peptides. 3 CD is treated with a gluten-free diet. Long-term complications of untreated CD are among others diarrhoea, abdominal pain, perinatal problems, osteoporosis and cancer. 1,4 CD has a strong genetic component, as 90% of CD patients carry the class II HLA-DQ2 haplotype, about 5% the HLA-DQ8 molecule [5][6][7][8] and the rest usually the half of the HLA-DQ2 heterodimer.The HLA-DQ2 and DQ8 haplotypes are present in over 25% of the general population, 6 but only 1% actually develops CD. 1 This indicates that HLA-DQ2 and -DQ8 haplotypes are necessary but not sufficient for disease development. Around 40% of the heritability of CD is explained by HLA-DQ2 and/or -DQ8. First-degree family members of CD patients who are HLA-DQ2 and/or DQ8 positive (DQ þ ) have an increased risk of approximately 10% to develop CD. 9

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“…True negative results (meaning that an individual does not carry a known mutation in the family) can lead to relief and a reduction in unnecessary invasive screening, 6,7 but they can also lead to survivor guilt, concerns over care-giving responsibilities if the individual is the only unaffected family member, and the need to entirely reframe one's self-image. 8 Positive results may lead to informed decisions regarding medical screening and interventions (eg, increased or earlier surveillance, prophylactic surgeries to reduce risks), 6,7 but they can also lead to anxiety about if and when medical problems may occur 9,10 and, in some extreme cases, the avoidance of screening because of a sense of genetic determinism. Positive results can also lead to anxiety about reproductive decision-making and can influence social life planning in various ways (eg, education, employment decisions).…”

mentioning

confidence: 99%

Medical Ethics for the Genome World

Ormond

2008

The Journal of Molecular Diagnostics

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Medical genetics, and in particular the areas of genetic testing and genetic counseling, are replete with ethical and social issues. This review provides readers with a summary of the genetic testing and counseling process, as well as the clinical challenges that can lead to ethical dilemmas during these processes. Using a clinical medical ethics approach, several hypothetical case scenarios are presented and discussed to provide examples of the ethical issues that can arise.

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Maternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes

Cited by 29 publications

References 67 publications

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

Impact on parents of HLA-DQ2/DQ8 genotyping in healthy children from coeliac families

Medical Ethics for the Genome World

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