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Disclosing to parents newborn carrier status identified by routine blood spot screening
S Oliver1, C Dezateux, J Kavanagh
1Social Science Research Unit, Institute of Education, University of London,, 18 Woburn Square, London, UK, WC1H 0NR. s.oliver@ioe.ac.uk
Insights
Newborn screening can identify genetic carriers, but disclosing this status to parents has unknown impacts. More research is needed on interventions for communicating carrier status effectively.
Area of Science:
- Genetics and Public Health
- Neonatal Screening
- Genetic Counseling
Background:
- Newborn blood spot screening detects serious conditions, potentially improving early diagnosis and parental experience.
- Screening may inadvertently identify genetic carriers, leading to parental anxiety and complex family implications.
- Advances in screening technology necessitate clear guidance on informed consent and result disclosure.
Purpose of the Study:
- To assess the impact of disclosing newborn carrier status identified through routine newborn blood spot screening to parents.
- To review existing evidence on the effects of communicating carrier status for conditions like cystic fibrosis and sickle cell disorders.
Main Methods:
- Searched electronic databases, specialist registers, and online resources for reports on disclosing newborn carrier status.
- Included studies focused on sickle cell disorders and cystic fibrosis screening.
- Selected studies employing controlled trials or randomized controlled trials to assess the impact of disclosure.
Main Results:
- No controlled trials were identified that specifically addressed the impact of disclosing newborn carrier status to parents.
- The review found a lack of empirical evidence on the effects of communicating carrier status.
Conclusions:
- There is a critical need to develop and evaluate interventions that support the disclosure of carrier status to parents.
- Further research is required to establish best practices for communicating genetic carrier information obtained from newborn screening.
Background:
Newborn blood spot screening programmes are designed to detect serious conditions affecting individuals, where early treatment can improve health. It is suggested that screening can improve the experience of diagnosis for parents. For example, without newborn screening, when a child with cystic fibrosis becomes symptomatic a period of uncertainty can arise prior to diagnosis. These potential advantages of screening need to be weighed against potential disadvantages of screening at individual and population levels. Some newborn screening programmes inadvertently identify newborn infants who, although not affected by the condition, carry a gene for it and can pass on that gene to their children; these are 'genetic carriers'. Knowledge of newborn carrier status can lead to: testing of parents and family members, and concern about possible affected future siblings should both parents be identified as carriers; the possibility of such testing revealing the putative father is not the biological father; concern about the child's future reproductive choices; and unjustified anxiety about the health of the carrier newborn. There is an urgent need to develop clear guidance as to how to respond, with advances in technology fuelling the expansion of newborn blood spot screening and raised expectations of informed consent and disclosing test results. Depending on the condition for which screening is offered, options include: employing tests that do not identify carrier status, if available; identifying acceptable ways of disclosing carrier status; or identifying acceptable ways of not disclosing carrier status. These options are illustrated by screening programmes for sickle cell disorders and cystic fibrosis. Currently, there are no screening tests available for sickle cell disorders that do not identify carrier status. For cystic fibrosis, the policy choice is between an extended period of testing, and a screening result that is available sooner for most newborns, but inadvertently identifies carrier babies.
Objectives:
The aim of this review was to assess the impact of disclosing to parents newborn carrier status inadvertently identified by routine newborn blood spot screening.
Search Strategy:
We searched for reports addressing disclosing newborn carrier status to parents following newborn screening for sickle cell disorders and cystic fibrosis in: commercially available electronic databases (October 2002), specialist registers, online journals, online abstracts and conference abstracts. We also scanned the reference lists of included papers.
Selection Criteria:
Studies addressing the impact of disclosing carrier status using a soundly controlled trial or randomised controlled trial.
Data Collection And Analysis:
Two researchers independently scanned titles and abstracts for relevance using the pre-specified inclusion criteria. Full reports of selected citations were then located and screened again for relevance by two researchers independently. At each stage, results were compared and discrepancies resolved by discussion.
Main Results:
We found no controlled trials about disclosing carrier status.
Reviewers' Conclusions:
There is a need to develop and evaluate the effects of interventions to support the disclosure of carrier status to parents following newborn screening.
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