Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Waisbren, Susan E.; Albers, Simone; Amato, Stephen; Ampola, Mary G.; Brewster, Thomas G.; Demmer, Laurie A.; Eaton, Roger B.; Greenstein, Robert M.; Korson, Mark S.; Larson, Cecilia A.; Marsden, Deborah; Msall, Michael E.; Naylor, Edwin W.; Pueschel, Siegfried M.; Seashore, Margretta R.; Shih, Vivian E.; Levy, Harvey L.

doi:10.1097/00006254-200406000-00007

Cited by 24 publications

(39 citation statements)

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“…Initial distress in relation to positive NBS or predictive genetic testing results tends to diminish rapidly,25 27 being superceded by the therapeutic opportunities associated with definitive early diagnosis28 29 and/or relief from uncertainty 30. NBS for genetic susceptibility to common complex disorders contrasts sharply with such testing in that rather than this ‘benefit of certainty’,1 the tests highlight a specific and ongoing level of uncertainty .…”

Section: Discussionmentioning

confidence: 99%

Parents' experiences of newborn screening for genetic susceptibility to type 1 diabetes

Kerruish

2011

J Med Ethics

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Advances in genomic medicine have lead to debate about the potential inclusion of genetic tests for susceptibility to common complex disorders in newborn screening programmes. Empirical evidence concerning psychosocial reactions to genetic testing is a crucial component of both ethical debate and policy development, but while there has been much speculation concerning the possible psychosocial impact of screening newborns for genetic susceptibilities, there remains a paucity of data. The aim of the study reported here is to provide some of this missing empirical evidence, using type 1 diabetes as an example of a common disorder with multiple significant genetic contributors to its aetiology. Semi-structured interviews were conducted with 11 parents of babies who had received increased risk results in a study that involved newborn screening for genetic susceptibility to type 1 diabetes. Interpretative phenomenological analysis was used to evaluate the data. The interview data suggest that the probabilistic nature of results of genetic susceptibility tests impacts upon all aspects of parents' psychosocial reactions, resulting in a complex and dynamic process quite different to that described in relation to current newborn screening programmes. While parents generally reported fairly minor levels of concern in response to news of their child's increased genetic risk, these worries frequently recurred, and perception of risk also varied and fluctuated over time. Both individual and contextual factors appeared to interact with the inherent uncertainty of the test result to contribute to the dynamic nature of parental reactions, and their behavioural responses. The implications of these findings for future research and for the debate concerning potential expansion of newborn screening are discussed.

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Section: Discussionmentioning

confidence: 99%

Parents' experiences of newborn screening for genetic susceptibility to type 1 diabetes

Kerruish

2011

J Med Ethics

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“…They also found a significant relationship between vulnerable child syndrome and childhood behavior problems. Characteristics of the VCS also have been associated with false-positive results from NBS for hearing impairment (Poulakis, Barker, & Wake, 2003) and metabolic disorders (Waisbren et al, 2003; Gurian, Kinnamon, Henry, & Waisbren, 2006), as well as genetic risk for type 1 diabetes (Kerruish et al, 2007). The current report addresses the question about whether there is long-term risk of parental perceptions of child vulnerability following false-positive NBS for CF.…”

Section: Introductionmentioning

confidence: 99%

Long‐term Evaluation of Genetic Counseling Following False‐Positive Newborn Screen for Cystic Fibrosis

Cavanagh¹,

Compton²,

Tluczek

et al. 2010

Journal of Genetic Counseling

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This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants' false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants' diagnostic sweat tests had significantly higher longterm retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child's carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11-14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation.

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“…Early screening programs for phenylketonuria (PKU) showed poor parental understanding of false-positive results and a tendency for parents of such children to perceive their children as medically vulnerable 8. More recent research has demonstrated associations between false-positive results and increased parental stress, mothers' perceptions that their children with false-positive results require increased parental care, and a trend towards increased hospitalization 9,10. Long-lasting psychological stress has been seen in families of children with false-positive screening tests 11,12.…”

Section: Introductionmentioning

confidence: 99%

Impact of false-positive newborn metabolic screening results on early health care utilization

Lipstein¹,

Perrin

Waisbren

et al. 2009

Genetics in Medicine

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Purpose: To analyze the association between false-positive newborn screening results and health care utilization. Methods: We surveyed parents regarding their children's health care utilization. Parents of children who received false-positive newborn screening results were primarily enrolled by a screening laboratory in Pennsylvania. Parents of children with normal results were recruited through the Massachusetts birth registry. We used bivariate tests and multivariate regression to assess the association between newborn screening results and primary care utilization, emergency room use, and hospitalization by the age of 6 months. Results: Our sample included 200 children with falsepositive results and 137 with normal results. Variation in recruitment strategies led to sample children with false-positive results being more likely to be non-white, have unmarried parents, and be of lower socioeconomic status. After adjusting for significant covariates, such as age, race, and socioeconomic status, there were no significant associations between newborn screening results and child health care utilization. Conclusions: Despite the reported negative psychosocial effects of false-positive results, our study found no impact on early health care utilization. These results may assist in economic analyses of newborn screening as they suggest that medical costs associated with falsepositive results are limited to the cost of diagnostic testing and follow-up. Genet States range from 2500 to Ͼ51,000. 1 Economic analyses of newborn screening find expanded screening with MS/MS to be cost effective, in part because, once a program owns a tandem MS/MS, screening for additional diseases using mass spectrometer adds very little incremental cost. 4 -7 However, these studies generally assume the cost of a false-positive result to be only the cost of confirmatory testing and care during the confirmatory period.The true impact of false-positive newborn screening tests is just beginning to be well described. Early screening programs for phenylketonuria showed poor parental understanding of false-positive results and a tendency for parents of such children to perceive their children as medically vulnerable. 8 More recent research has demonstrated associations between false-positive results and increased parental stress, mothers' perceptions that their children with false-positive results require increased parental care, and a trend toward increased hospitalization. 9,10 Long-lasting psychological stress has been seen in families of children with false-positive screening tests. 11,12 Studies such as these have led to speculation that false-positive results may lead to increased perceptions of child vulnerability, 1,13,14 which have been associated with increased health care utilization in other childhood conditions. 15-18 Indeed, early work suggested that increased hospitalization is seen among children with falsepositive newborn screen results 10 ; however, the associations between false-positive newborn screening results and health care...

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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Cited by 24 publications

References 0 publications

Parents' experiences of newborn screening for genetic susceptibility to type 1 diabetes

Parents' experiences of newborn screening for genetic susceptibility to type 1 diabetes

Long‐term Evaluation of Genetic Counseling Following False‐Positive Newborn Screen for Cystic Fibrosis

Impact of false-positive newborn metabolic screening results on early health care utilization

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