Healthcare professionals’ and parents’ experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot

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Abstract

Background

With further expansion of the number of conditions for which newborn screening can be undertaken, it is timely to consider the impact of positive screening results and the confirmatory testing period on the families involved. This study was undertaken as part of a larger programme of work to evaluate the Expanded Newborn Screening (ENBS) programme in the United Kingdom (UK). It was aimed to determine the views and experiences of healthcare professionals (HCPs) and parents on communication and interaction during the period of confirmatory testing following a positive screening result.

Methods

Semi-structured interviews were undertaken with parents of children who had received a positive ENBS result and HCPs who had been involved with the diagnosis and support of parents. Ten parents and 11 healthcare professionals took part in the in-depth interviews. Questions considered the journey from the positive screening result through confirmatory testing to a confirmed diagnosis and the communication and interaction between the parents and HCPs that they had been experienced. Key themes were identified through thematic analysis.

Results

The results point to a number of elements within the path through confirmatory testing that are difficult for parents and could be further developed to improve the experience. These include the way in which the results are communicated to parents, rapid turnaround of results, offering a consistent approach, exploring interventions to support family relationships and reviewing the workload and scheduling implications for healthcare professionals.

Conclusions

As technology enables newborn screening of a larger number of conditions, there is an increasing need to consider and mediate the potentially negative effects on families. The findings from this study point to a number of elements within the path through confirmatory testing that are difficult for parents and could be further developed to benefit the family experience.

Electronic supplementary material

The online version of this article (doi:10.1186/s12887-017-0873-1) contains supplementary material, which is available to authorized users.

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Most cited references 8

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Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.

Can Ficicioglu, Nina Thomas, Claire Yager … (2008)

Newborn screening for galactosemia has shown a high prevalence of partial galactose uridyl transferase deficiencies such as Duarte (DG) galactosemia. To determine whether (a) there is any clinical impact of DG galactosemia on development (b) there is a relationship between outcome and biochemical parameters in patients who receive no treatment. Twenty-eight children with DG galactosemia. Group-I-17 children had a lactose restricted diet in the first year of life. Group-II-11 children had a regular diet since birth. Developmental, physical, and ophthalmologic assessments were completed on both DG groups. RBC gal-1-p and urine galactitol were monitored during the follow-up visits in every child with DG galactosemia. Gal-1-p, urine galactitol, liver function tests, and FSH were tested at the time of study visit. The groups had statistically significant differences on RBC gal-1-p and urine galactitol at the 2 week, 1 month, 6 month, and 1 year time points. There was no statistical difference of gal-1-p or urine galactitol in group-I and -II at the time of study. The groups had statistically significant differences on adaptive scores, but not on language or IQ. None of the DG subjects had abnormal liver function at the time of diagnosis or the study visit. The FSH levels were normal. There were no statistically significant relationships between the first year metabolic values and developmental outcomes. The data presented here indicate that clinical and developmental outcomes in DG galactosemics are good regardless of any diet changes.

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Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

Juliet Oerton, Javaria M Khalid, Guy Besley … (2011)

Background Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain. Objective To estimate, overall and by ethnic group: screen-positive prevalence and predictive value (PPV); MCADD prevalence; proportion MCADD variants detected of predicted definite or uncertain clinical importance. Setting All births in areas of high ethnic minority prevalence in England. Methods Prospective multicentre pilot screening service; testing at age five to eight days; standardized screening, diagnostic and management protocols; independent expert review of screen-positive cases to assign MCADD diagnosis and predicted clinical importance (definite or uncertain). Results Approximately 1.5 million babies (79% white; 10% Asian) were screened. MCADD was confirmed in 147 of 190 babies with a positive screening result (screen-positive prevalence: 1.20 per 10,000; MCADD prevalence: 0.94 per 10,000; PPV 77% [95% CI 71–83]), comprising 103 (70%) with MCADD variants of definite clinical importance (95 white [95%]; 2 Asian [2%]) and 44 (30%) with variants of uncertain clinical importance (29 white [67%]; 12 Asian [28%]). Conclusion One baby in every 10,000 born in England is diagnosed with MCADD by newborn screening; around 60 babies each year. While the majority of MCADD variants detected are predicted to be of definite clinical importance, this varies according to ethnic group, with variants of uncertain importance most commonly found in Asian babies. These findings provide support for MCADD screening but highlight the need to take account of the ethnic diversity of the population tested at implementation.

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False-negative results in screening programmes: systematic review of impact and implications.

D Lister, A Sowden, Ann K. Wright … (1999)

When assessing whether a screening programme is appropriate, there is a particular obligation to ensure that the harms as well as the benefits are considered. Among these harms is the likelihood that false-negative results will occur. In some cases, the consequences of these can be difficult to assess, although false reassurance leading to diagnostic delay and subsequent treatment has been suggested. However, no test is totally accurate (with 100% sensitivity and specificity), and false-negative results are inherent in any screening programme that does not have 100% sensitivity. This review was carried out to assess the medical, psychological, economic and legal consequences of false-negative results that occur in national screening programmes. (1) to determine the consequences of false-negative findings; (2) to investigate how their adverse effects can be minimised; to assess their implications for the NHS, including the impact of false-negatives on public confidence in screening programmes; to identify relevant theoretical perspectives that may be potentially useful when considering the implications of false-negative results. A systematic literature review was carried out. This included a search of 18 electronic databases, various bibliographies and contact with experts to identify relevant literature and perspectives. Outcomes included in the review fell into four categories: medical outcomes (morbidity and mortality); psychological outcomes (distress, false reassurance, loss of confidence in services); economic outcomes (such as costs to the NHS); legal outcomes (such as litigation). Other outcomes, such as the impact of false-negatives on public confidence in screening programmes, were also included. The participants included individuals taking part in screening programmes, healthcare professionals and organisations responsible for screening programmes. Methodological details of the review are provided in the full report. A total of 6660 abstracts were screened, and 420 potentially relevant papers were identified. Most of the studies that were identified presented only anecdotal evidence. (1) Medical outcomes: In all, 13 papers presented quantitative information relevant to the medical consequences of false-negative results; seven of these were primary studies, and the remaining studies were literature reviews or models examining the likely impact of false-negative results. (2) Psychological outcomes: A total of eight published studies presented information on the psychological consequences of negative results in general; only one study, on antenatal screening, provided direct evidence of the psychological consequences of false-negative results, where they were associated with lower parental acceptance of the affected child and with blaming others for this outcome. (3) Economic outcomes: Only two studies presented information on the economic consequences. The strength of evidence from most of the primary studies was low. There is some evidence that false-negative results may have a large legal impact. For example, in cervical screening they have led to legal action and its associated costs, including payment of compensation; this is based on reports of events in both the UK and US health systems. There also seems to be a consensus in the literature that false-negatives may have a negative impact on public confidence in screening; evidence is again limited however. False-negatives are evident in all screening programmes, even when the quality of the service provided is high. They may have the potential to delay the detection of breast and cervical cancer, but there is little evidence to help assess their psychological consequences in these or other screening programmes. False-negatives are likely to lead to legal action being taken by those individuals affected, and potentially may reduce public confidence in screening. (ABSTRACT TRUNCATED)

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Author and article information

Contributors

Louise Moody:

ORCID: http://orcid.org/0000-0003-2326-4124

+44 2476 795601 , +44 7557 425760 , L.moody@coventry.ac.uk

Lou Atkinson: +44 24 7765 7470 , l.atkinson@coventry.ac.uk

Isher Kehal: +44 2476887448 , kehali@uni.coventry.ac.uk

James R. Bonham: 0114 271 7404 , jim.bonham@sch.nhs.uk

Journal

Journal ID (nlm-ta): BMC Pediatr

Journal ID (iso-abbrev): BMC Pediatr

Title: BMC Pediatrics

Publisher: BioMed Central (London )

ISSN (Electronic): 1471-2431

Publication date (Electronic): 8 May 2017

Publication date PMC-release: 8 May 2017

Publication date Collection: 2017

Volume: 17

Electronic Location Identifier: 121

Affiliations

[1 ]ISNI 0000000106754565, GRID grid.8096.7, School of Art and Design, , Coventry University, ; Priory Street, Coventry, CV1 5FB UK

[2 ]ISNI 0000000106754565, GRID grid.8096.7, Centre for Applied Biological & Exercise Sciences, , Coventry University, ; Coventry, CV1 5FB UK

[3 ]ISNI 0000000106754565, GRID grid.8096.7, Centre for Technology Enabled Health Research, , Coventry University, ; Coventry, CV1 5FB UK

[4 ]Newborn Screening Laboratory, Sheffield Children’s NHS Foundation Trust, Western Bank, Sheffield, S10 2TH UK

Author information

Louise Moody http://orcid.org/0000-0003-2326-4124

Article

Publisher ID: 873

DOI: 10.1186/s12887-017-0873-1

PMC ID: 5422997

PubMed ID: 28482885

SO-VID: 15d387ba-c5d5-4c6d-a28b-7678a7435d59

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 3 February 2016

Date accepted : 25 April 2017

Funding

Funded by: Sheffield Hospitals Charity (GB)

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ScienceOpen disciplines: Pediatrics

Keywords: expanded newborn screening,confirmatory testing,parents experiences,hcps experiences,communication of screening results

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ScienceOpen disciplines: Pediatrics

Keywords: expanded newborn screening, confirmatory testing, parents experiences, hcps experiences, communication of screening results

Healthcare professionals’ and parents’ experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot

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Pediatric Pulse: Advancing Neonatal and Child Health

Most cited references 8

Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

False-negative results in screening programmes: systematic review of impact and implications.

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