The acceptability of blood spot screening and genome sequencing in newborn screening: a systematic review examining evidence and frameworks
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Updated: May 11, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Duncan Chambers1, Susan Baxter1, Anastasios Bastounis1
1School of Medicine and Population Health, University of Sheffield, Sheffield, UK.
Insights
Most parents find newborn blood spot screening acceptable, but concerns exist regarding information timing and post-screening support. Further research is needed for newborn genomic sequencing acceptability.
Area of Science:
- Public Health
- Genetics
- Healthcare Policy
Background:
- Newborn blood spot screening (NBSS) is a public health intervention for early detection of rare conditions.
- Expansion of NBSS and genetic sequencing necessitates understanding parental acceptability.
- Parental views on screening processes, information, and support are crucial for program evaluation.
Purpose of the Study:
- To systematically review research on parental acceptability of NBSS and genetic sequencing.
- To identify key domains influencing parental acceptance of newborn screening methods.
- To inform potential expansion of screening programs in the UK.
Main Methods:
- Systematic review of quantitative and qualitative studies published after 2013.
- Inclusion of studies with pregnant individuals or recent parents in high-income countries.
- Narrative synthesis of quantitative data and meta-synthesis of qualitative data.
Main Results:
- Consensus support for NBSS and expansion to new conditions, with some reported parental anxiety.
- Parents generally felt informed but desired improved timing of information delivery.
- Interest in genomic screening exists, but clearer consent and enhanced post-screening support are needed.
Conclusions:
- NBSS programs are largely acceptable to parents, favoring large-scale implementation.
- Parental concerns focus on consent, information timing, and post-test support.
- More research is required on the acceptability of newborn genomic sequencing due to its nascent stage.
Background:
Population-wide newborn blood spot screening programmes are a successful public health intervention used to detect whether the baby is at risk of certain rare conditions, with the aim of earlier diagnosis and provision of optimal care and treatment. Evaluating candidate conditions to include in newborn blood spot and genetic sequencing raises questions regarding acceptability to parents/carers.
Methods:
In the context of the possible expansion of the newborn blood spot screening programme in the United Kingdom, this review aimed to systematically review research on the acceptability to parents of newborn blood spot screening and genetic sequencing. A protocol was developed prior to commencing the review and was registered on the PROSPERO database. A team of researchers carried out the review, with checking at all stages carried out by at least two individuals. We included research published after 2013 with participants who were pregnant or a recent parent of a newborn and were resident in a high-income country. We included quantitative and qualitative studies that investigated the acceptability to parents/carers of newborn blood spot screening or genetic sequencing. Quantitative studies were narratively synthesised, and theories/frameworks identified and evaluated. Qualitative studies were analysed for recurring themes, and a meta-synthesis was carried out to compare and contrast these two types of data. We quality appraised included articles using tools appropriate for their study design.
Results:
Searches were carried out in September to November 2023 and screening identified 25 relevant research articles. Just over half were from North America, with four existing reviews and nine qualitative studies. Domains of acceptability described in the literature were: support for screening; level of anxiety, information and knowledge; consent; views of the procedure; and support after screening. The research indicated consensus support for blood spot screening, and for expanding to some other conditions, although some parental anxiety was reported. Parents/carers mostly perceived that they had received sufficient information, but the timing of this could be improved. While parents indicated interest in genomic screening, studies highlighted the need for clearer consent procedures and greater support for parents following genomic screening than for blood spot screening. Only three included studies reported using any kind of theoretical framework.
Discussion:
Most parents/carers found newborn blood spot screening programmes to be acceptable and favoured their large-scale implementation. A minority of parents/carers expressed concerns regarding the acceptability of processes underpinning newborn blood spot screening, such as consent, the timing of receiving information and support available after testing. More research is needed regarding the acceptability of newborn genomic sequencing screening programmes, which are less established compared with newborn blood spot screening programmes.
Limitations:
The over-representation of studies conducted in the United States has implications for the applicability of findings to other countries where testing is not typically mandatory and health systems differ considerably. Most studies were of cross-sectional design and there was limited representation of people from lower incomes and non-white ethnicity. While the inclusion of studies only in populations of future or very recent parents provided coherence to the findings, unclear reporting of participants may have resulted in under- or overinclusion of some studies.
Funding:
This article presents independent research funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme as award number NIHR159927.
