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

Kerruish, Nicola

doi:10.1038/gim.2015.73

Cited by 21 publications

(38 citation statements)

References 21 publications

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“…However, the majority of these parents felt that their child had been aware of the information prior to this, and while they could not recall a specific discussion, felt that the information had 'just always been talked about'. 12 Parental responses to our question concerning what age the child was told the genetic test result in the study described here may be reflective of this phenomenon. This finding is consistent with data from other studies that acknowledge that children may learn about genetic information gradually as part of growing up, and that this may make the new information and its implications easier to cope with.…”

Section: Perception Of Riskmentioning

confidence: 95%

“…10 These results suggest that in general parents are not unduly concerned about their child's risk of T1D, with support for this supposition coming from our recent interviews with parents in which they reported largely relegating their child's genetic risk of T1D to the back of their minds, believing it had very little ongoing impact on their family lives. 12 Disclosure of results to child Twice as many parents in the increased risk group reported that their child was aware of the test result (79 versus 43%) and said that their children were informed at a significantly younger age (9.9 years versus 11.0 years) than the low-risk group. Interestingly, in our qualitative interview study conducted with a subset 14 of the increased risk group parents at a similar time to this study, most parents reported not discussing the test result with their child until re-contacted for the study (ie, when the children were approximately 12 years old).…”

Section: Perception Of Riskmentioning

confidence: 99%

“…9,[23][24][25][26] Such perceptions are likely to be reinforced by a child's 'normal' appearance and apparent good health. 12 Subjective ratings of concern Despite these under-estimations of risk parents in the increased risk group reported thinking and worrying about their child's genetic test result more than parents in the low-risk group. However, their level of concern was at the lower end of our Likert-type scale (median of 1 on a 6-point scale) and had diminished since our previous study at 1 year when mean rating for 'worry' in the increased risk group was 2.2.…”

Section: Perception Of Riskmentioning

confidence: 99%

“…8,9 The present study builds upon our previous reports of maternal psychological reactions in the first year after testing, 10 at child age 3 years 11 and a recent qualitative report of parents experiences after 12 years. 12 We report here the quantitative psychological evaluation of two motherchild groups (increased and low genetic risk) designed to investigate the potentially complex and time-varying interactions between: parental perceptions of their child's risk of T1D, parental concern regarding their child's genetic risk, parental rating of their child's behaviour, parenting style and the child's own evaluation of selfconcept.…”

Section: Introductionmentioning

confidence: 99%

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Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes

2017

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Little is known about the psychosocial consequences of testing newborns for genetic susceptibility to multifactorial diseases. This study reports quantitative psychosocial evaluations of parents and children 12 years after screening for type 1 diabetes (T1D). Two parent-child cohorts participated: children at increased genetic risk of T1D and children at low genetic risk. T1D risk status was determined at birth as part of a prospective study investigating potential environmental triggers of autoimmunity. Parent measures included ratings of children's emotional, behavioural and social functioning (Child Behaviour Checklist) and parenting style (Alabama Parenting Questionnaire). Child self-concept was assessed using the self-description questionnaire (SDQ1). Statistical analyses were conducted to test for differences between the groups. Twelve years after testing there was no evidence that knowledge of a child's increased genetic risk of T1D adversely affected parental ratings of their child's emotional, behavioural or social functioning, or impacted upon parenting style. There was no adverse effect upon the child's assessment of their self-concept. This study provides important preliminary data concerning longer-term psychosocial effects of incorporating tests for genetic risk of complex disorders into NBS panels. While it is reassuring that no significant adverse effects have been detected, more data will be required to adequately inform policy.

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Section: Perception Of Riskmentioning

confidence: 95%

Section: Perception Of Riskmentioning

confidence: 99%

Section: Perception Of Riskmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes

2017

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“…22 Specifically, 15 of 41 mothers of newborns who had received a T1D risk result of 1 in 16 were interviewed to elicit descriptions of their experiences. Of note, none of the children had developed T1D at the time of interviews, which was when they were 11-13 years old.…”

mentioning

confidence: 99%

Newborn testing and screening by whole-genome sequencing

Kingsmore

2016

Genetics in Medicine

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Over the course of the next few decades, the availability of cheap, efficient DNA sequencing technology will lead to a medical landscape in which each baby's genome is sequenced, and that information is used to shape a lifetime of personalized strategies for disease prevention, detection, and treatment. -Francis Collins 1When the helmsman of the world's leading supporter of biomedical research declares that large-scale newborn genome sequencing is on the horizon and will transform medicine, it behooves health-care researchers, practitioners, and leaders to pay close attention. Thus, to introduce this themed issue on newborn diagnostic testing and newborn screening (NBS) by next-generation sequencing (NGS), I briefly summarize progress and trends in this area of imminent great change.In the past 18 months there have been remarkable improvements in methods for whole-genome sequencing (WGS). Most notable was the introduction of a new range of Illumina sequencing instruments with patterned flow cells. These instruments allow 18,000 genomes per year to be robustly sequenced at a cost of $1,000 each. 2 Together with improved software for read alignment and variant calling, these instruments have increased the analytic sensitivity and specificity of WGS for nucleotide variants to greater than 99.5%. 3 In parallel, Complete Genomics is in the process of a commercial launch of a sequencing system that enables WGS of 10,000 genomes per year, at a similar cost. 4 Concomitantly, there have been significant advances in the quality, functionality, and availability of commercial software and freeware for WGS analysis and interpretation, and of reference and pathogenic variant databases, such that interpretation and reporting are now scalable to large numbers of patients. Thus, for the first time, WGS of the 3.9 million babies born in the United States each year will be technically feasible in 2016. It is likely to be Qatar, and not the United States, however, that will be the first to undertake population-scale newborn WGS. 5 Single-gene diseases, which now number an astonishing 8,042, are the leading cause of death in infants and in those in neonatal (NICUs) and pediatric intensive care units (PICUs) in the United States. 6 Thus, it is not surprising that one of the first applications in which WGS has shown diagnostic utility is in NICU infants. 7,8 For acute clinical utility in the NICU or PICU, however, WGS must be capable of returning results much faster than in a typical research or reference laboratory setting. Indeed, in a recent case series, 57% of regional (level IV) NICU babies diagnosed with genetic diseases had died by day of life 100. 7 In response, rapid WGS methods have been developed specifically for timely genetic disease diagnosis in the NICU and PICU. 3,9-11 The current speed record is 26 h from neonatologist referral to return of a provisional diagnosis. 3 In the same case series, the diagnostic rate of WGS was 57%, a figure higher than that obtained in other clinical settings. 7,8,[12][13][14][15] To date,...

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Principles of Genomic Newborn Screening Programs

et al. 2021

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IMPORTANCE Genomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial. OBJECTIVES To identify what has been discovered following the reporting of the first gNBS pilot projects and to provide a summary of key points for the design of gNBS. EVIDENCE REVIEW A systematic literature review was performed on April 14, 2021, identifying 36 articles that addressed the following questions: (1) what is the interest in and what would be the uptake of gNBS? (2) what diseases and genes should be included? (3) what is the validity and utility of gNBS? and ( 4) what are the ethical, legal, and social implications? Articles were only included if they generated new evidence; all opinion pieces were excluded. FINDINGS In the 36 articles included, there was high concordance, except for gene disease inclusion, which was highly variable. Key findings were the need for equitable access, appropriate educational materials, and informed and flexible consent. The process for selecting genes for testing should be transparent and reflect that parents value the certainty of prediction over actionability.Data should be analyzed in a way that minimizes uncertainty and incidental findings. The expansion of traditional newborn screening (tNBS) to identify more life-threatening and treatable diseases needs to be balanced against the complexity of consenting parents of newborns for genomic testing as well as the risk that overall uptake of tNBS may decline. The literature reflected that the right of a child to self-determination should be valued more than the possibility of the whole family benefiting from a newborn genomic test. CONCLUSIONS AND RELEVANCEThe findings of this systematic review suggest that implementing gNBS will require a nuanced approach. There are gaps in our knowledge, such as the views of diverse populations, the capabilities of health systems, and health economic implications. It will be essential to rigorously evaluate outcomes and ensure programs can evolve to maximize benefit.

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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

Cited by 21 publications

References 21 publications

Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes

Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes

Newborn testing and screening by whole-genome sequencing

Principles of Genomic Newborn Screening Programs

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