Research and commentary

Parental response to sickle cell and cystic fibrosis results after newborn screening

Gaining informed consent does not always guarantee that parents are fully aware of the possible outcomes of newborn screening for genetic or congenital conditions
Sickle-cell disease

Ulph F et al (2015) Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. European Journal of Human Genetics, 23, 4, 459-465.

Newborn screening (NBS) identifies pre-symptomatic babies who are at risk of carrying or affected by genetic or congenital conditions (UK Newborn Screening Programme Centre 2012). In England, parents are required to provide informed consent before their baby is screened.

Healthy carrier status is the second commonest outcome that parents and HPs will discuss in practice, after normal results. Misunderstanding about carrier results has been linked to heightened parental anxiety.

This paper explores the impact on parents of receiving cystic fibrosis or sickle cell carrier results in England. It was proposed that requiring parents to be informed about the NBS process before consent would adequately prepare

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Ulph F et al (2015) Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening. European Journal of Human Genetics, 23, 4, 459-465.

 

Newborn screening (NBS) identifies pre-symptomatic babies who are at risk of carrying or affected by genetic or congenital conditions (UK Newborn Screening Programme Centre 2012). In England, parents are required to provide informed consent before their baby is screened.

Sickle-cell disease
Sickle cell disease. Photo: Science Photo Library

Healthy carrier status is the second commonest outcome that parents and HPs will discuss in practice, after normal results. Misunderstanding about carrier results has been linked to heightened parental anxiety.

This paper explores the impact on parents of receiving cystic fibrosis or sickle cell carrier results in England. It was proposed that requiring parents to be informed about the NBS process before consent would adequately prepare them for the outcome and could potentially reduce distress.

Aim

The aim of this research was to provide a qualitative exploration of the impact of receiving cystic fibrosis or sickle cell carrier results on parents after screening of their baby in England.

Method

Parents informed of their baby’s carrier results were purposively sampled. They were recruited from the nine health regions in England in 2008. Semi-structured interviews were conducted using a topic guide in participants’ homes. Interviews were recorded and transcribed verbatim. Data generation and analysis were iterative, using techniques derived from grounded theory.

Findings

Interviews were conducted with 67 family members of 51 infants identified by NBS as carriers of cystic fibrosis (n=27) and sickle cell (n=24). Four themes emerged from data analysis: the impact of knowing the carrier result, effect of the process of communication, cascade testing within the family and sharing of carrier information with extended family.

Parents felt it important that they were informed of their baby’s carrier status. Some parents experienced distress or anxiety linked to their experience of NBS that was directly related to the way in which the information was communicated to them.

Parents subsequently considered their own carrier status and whether their other children were unidentified carriers. Most felt they should share their baby’s carrier status with families, but some were unsure who to tell or how to raise the issue.

Conclusion

Disclosure of cystic fibrosis or sickle cell carrier results following NBS can impact on parents and wider family. Although most parents valued knowing, there was considerable anxiety and distress following initial communication of results. This was mainly linked to how results were communicated, particularly for parents of infants who received a carrier status result for cystic fibrosis. Subsequently parents were able to process this information satisfactorily.

Commentary

Families need support to understand the implications of screening results

In January 2015, NBS in the UK was expanded to cover 9 conditions. Of nearly 800,000 babies who underwent NBS in 2014-15, more than 10,000 received a positive NBS result (carrier or affected) (Public Health England 2016a, 2016b).

It is widely acknowledged that parents find the delivery of positive NBS results distressing (Buchbinder and Timmermans 2012, Salm et al 2012, Chudleigh et al 2016) and this research highlighted the process of communication giving could influence the way the information is received and processed by parents.

It would also seem from the findings of this work that despite the requirement for parents to provide informed consent before screening, they were not always fully aware of possible outcomes.

It is therefore vital that health professionals involved in communication about the screening process have all the facts and are able to impart them effectively. Health professionals involved in communicating positive NBS results should be aware of the possible impact and able to give appropriated support to families. 

References

Buchbinder M, Timmermans S (2012) Newborn screening for metabolic disorders: parental perceptions of the initial communication of results. Clinical Pediatrics (Philadelphia).  51, 8, 739-744.

Chudleigh J, Buckingham S, Dignan J et al (2016) Parents' Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease. Journal of Genetic Counseling. doi:10.1007/s10897-016-9959-4

 

Public Health England (2016a) Data Collection and Performance Analysis Report Newborn Blood Spot Screening in the UK 2014/15. PHE, London.

Public Health England (2016b) NHS Sickle Cell and Thalassaemia Screening Programme Data Report 2014/15: Trends and Performance Analysis. PHE, London.

Salm A et al (2012) Informing Parents about Positive Newborn Screening Results: Parents' Recommendations. Journal of Child Health Care 16, 4, 367-381.

UK Newborn Screening Programme Centre (2012) Health Professional Handbook: A Guide to Newborn Blood Spot Screening. UKNSPC, London.   


Compiled by Jane Chudleigh, lecturer at King's College London, on behalf of the RCN’s Research in Child Health community

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