Improving how positive newborn screening results are communicated to parents of children with sickle cell disease
Intended for healthcare professionals
Evidence and practice    

Improving how positive newborn screening results are communicated to parents of children with sickle cell disease

Lesley McCarthy Roald Dahl Haemoglobinopathy Nurse Specialist, Children’s Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, England

Why you should read this article:
  • To enhance your knowledge of how newborns are screened for sickle cell disease in the UK

  • To reflect on how positive screening results for sickle cell disease need to be communicated to parents

  • To recognise the skills and knowledge healthcare professionals need to communicate positive screening results for sickle cell disease to parents

Sickle cell disease, the most common inherited disorder at birth in the UK, has been included in the UK newborn screening programme since 2006. For parents, receiving the news that their newborn has a serious long-term condition can trigger reactions such as shock, disbelief and guilt. Guidelines on sickle cell disease provide clear screening pathways, but there is variation in how and by whom positive results are communicated to parents.

The way in which this is done is crucial, not only for parents’ acceptance of the diagnosis but also for their future therapeutic relationships with healthcare professionals and therefore for their child’s future health outcomes. Being given reliable and relevant information by confident and knowledgeable staff gives parents hope that their child will achieve a good quality of life. Based on the literature and on the author’s experience as a haemoglobinopathy nurse specialist, this article discusses how to improve the communication of positive newborn screening results to parents of children with sickle cell disease.

Nursing Children and Young People. doi: 10.7748/ncyp.2020.e1311

Peer review

This article has been subject to open peer review and has been checked for plagiarism using automated software

@MoggyLJ

Correspondence

lesley.mccarthy@ouh.nhs.uk

Conflict of interest

None declared

McCarthy L (2020) Improving how positive newborn screening results are communicated to parents of children with sickle cell disease. Nursing Children and Young People. doi: 10.7748/ncyp.2020.e1311

Published online: 13 October 2020

Sickle cell disease has an incidence of about 1 in 2,000 births (Chakravorty and Williams 2015) and occurs predominantly in people of black African or African-Caribbean descent. It is the most common genetic condition at birth in the UK and a chronic condition with lifelong consequences (National Institute for Health and Care Excellence (NICE) 2016). With the right treatment and support, sickle cell disease can be managed successfully and patients can achieve a good quality of life.

Since 2006, sickle cell disease is included in the UK newborn blood spot screening programme, but the way in which positive screening results are communicated to parents is not always optimal. This can affect their acceptance of the diagnosis, trust in healthcare services and future relationships with healthcare professionals – and therefore their child’s future health outcomes. Based on the literature, and on the author’s experience as a haemoglobinopathy nurse specialist, this article discusses how to improve the way positive newborn screening results are communicated to parents of children with sickle cell disease.

Key points

  • Sickle cell disease is the most common genetic disorder at birth in the UK and occurs predominantly in people of black African or African-Caribbean descent

  • Sickle cell disease is one of nine rare but serious conditions tested for in the UK as part of newborn blood spot screening

  • There are robust screening pathways for sickle cell disease but the way in which positive results are communicated to parents is not always optimal

  • How positive results are communicated to parents may affect their engagement with healthcare professionals and therefore their child’s future health outcomes

  • Investment in service provision and staff training would support healthcare professionals to communicate positive results to parents in a more informed, consistent, empathetic and supportive way

Sickle cell disease

The identification of sickle cell disease is documented as far back as the 1800s, but it was not until the 1900s that the defective haemoglobin gene was isolated as the definitive cause (Chakravorty and Williams 2015). Mutations of the beta haemoglobin gene result in a group of inherited disorders called sickle cell disease, which includes sickle cell anaemia (generally the most severe type), sickle cell-haemoglobin C disease and sickle cell-beta thalassaemia (Kato et al 2018).

Sickle cell disease is an autosomal recessive disorder, which means it is carried on all chromosomes apart from the sex chromosomes and the affected gene must be inherited from both parents for the disease to be present. An individual who inherits only one affected gene is described as having carrier status, which means that the disease has no clinical significance for them but may still be passed on to their progeny.

Haemoglobin is the oxygen-carrying component of red blood cells and has a role in maintaining their shape. Each molecule of haemoglobin contains two alpha and two beta globin protein chains, which are composed of amino acids. A substitution of the amino acid valine for the amino acid glutamic acid in one of the beta globin protein chains leads to the production of an abnormal globin protein. This abnormal globin protein polymerises during deoxygenation, causing red blood cells to lengthen and become sickle-shaped in appearance, which is referred to as ‘sickling’ (Long et al 2011, Inusa et al 2019, Bain 2020). Red blood cells regain their shape when oxygenated – which is referred to as ‘unsickling’ – but over time the sickling becomes irreversible.

Sickled red blood cells have a lifespan of between ten and 20 days and are less effective than healthy red blood cells, which have a lifespan of about 120 days (Inusa et al 2019). People with sickle cell disease can experience chronic anaemia leading to increased morbidity and mortality, and vascular occlusion leading to episodes of pain and an elevated risk of organ damage and stroke (Long et al 2011). Treatment involves measures to manage symptoms and crises, prevent complications, and support patients and families. Hydroxycarbamide has been used successfully for the past 20 years to reduce the severity and incidence of crises and complications (Qureshi et al 2018) and bone marrow transplantation is an option for patients with severe complications. New therapies including gene editing are on the horizon.

Sickle cell disease is a perfect example of natural selection in humans. Being a carrier of the affected gene is thought to provide some protection against malaria and the geographical distribution of sickle cell disease reflects the historic incidence of death from malaria. Sickle cell disease occurs predominantly in people of black African or African-Caribbean descent and is prevalent in Africa, the Eastern Mediterranean, the Middle East, India and South and Central America (Bain 2020). Migration over the past few hundred years has meant that incidence has increased in Europe and North America.

Newborn and prenatal screening

UK guidelines for sickle cell disease provide clear pathways for prenatal screening and counselling, newborn blood spot screening, and ongoing treatment and care of children with the disorder (NICE 2016, Public Health England (PHE) 2017, 2018a, PHE and Sickle Cell Society 2019). The aims of prenatal screening and counselling are to assess the risk of the future child having the disorder by checking the parents’ status (and potentially conduct prenatal diagnosis if the risk of transmission is high); and to prepare the parents for the possibility that their child might have the disorder by providing them with information and support. The aim of newborn screening is to determine whether the newborn child has the disease.

Newborn screening

In the UK, newborn screening programmes include sickle cell disease since 2006, since evidence has shown that early detection leads to better health outcomes for children. The risk of life-threatening pneumococcal infection has been shown to be significantly reduced if a newborn child with sickle cell disease is referred to specialist services and starts receiving prophylactic penicillin from the age of three months (Davies et al 2011). Newborn blood spot screening consists in a heel prick test conducted by a healthcare professional when the child is five days old to test for nine rare but serious conditions, including sickle cell disease (NHS 2018). However, screening is optional for parents and its uptake partly depends on the training and expertise of the healthcare services and professionals who provide it.

Despite screening being optional, it has been found that parents’ consent is sometimes assumed and their informed consent not always sought (Miller et al 2010). Parents have reported not always receiving a full explanation of the significance of screening and being given an ill-founded sense of optimism. In one study, healthcare professionals were often found to downplay the significance of screening to the point where parents were shocked when they received a positive result (Chudleigh et al 2016). A study in the Netherlands found that obtaining parents’ informed consent for screening could enhance their trust in the screening programme and therefore their adherence to their child’s future treatment. It also found that continuity of care – that is, parents consistently speaking to the same healthcare professional – contributed to positive relationships between parents and healthcare teams (Van der Burg and Verweij 2012).

Prenatal screening and counselling

Previous knowledge of sickle cell disease is beneficial in preparing parents for a potential positive newborn blood spot screening result in their child (Chudleigh et al 2016). Providing such knowledge is one of the main aims of prenatal screening and counselling.

The UK prenatal screening programme for sickle cell disease is based on the geographical prevalence of haemoglobinopathy disorders (PHE 2018a):

  • In high-prevalence areas, where ≥2% of prenatal booking bloods (blood samples taken from the mother by week ten of gestation) received by the laboratory are positive, all pregnant women are offered a blood test to screen for sickle cell disease and other haemoglobin variants. The Family Origin Questionnaire (FOQ) – which supports the identification of people at risk of sickle cell disease or other haemoglobinopathies (NHS Sickle Cell and Thalassaemia Screening Programme 2019) – is completed and sent to the laboratory with the blood sample.

  • In low-prevalence areas (where <1% of booking bloods received by the laboratory are positive), the FOQ is used as the initial screening tool to identify future mothers – or biological fathers – at high risk of being carriers of sickle cell disease or other haemoglobin variants. If either parent falls into a high-risk group, a screening blood test is offered to the future mother.

  • In areas that fall between the cut-off for low and high prevalence, healthcare organisations are advised to continue using their usual prenatal screening algorithm and monitor their position annually.

In any of the above scenarios, if the future mother is identified as being a carrier, paternal testing is offered. If the future father is also found to be a carrier, the risk of transmission to the child is considered high and prenatal diagnosis is offered, ideally before week 12 of gestation (PHE 2018b).

Communicating screening results

After birth, a positive newborn blood spot screening result for sickle cell disease is communicated to the parents by the age of four weeks and the child is enrolled into a specialist service by the age of three months (PHE 2017). With parental consent, these measurable outcomes are entered into the National Haemoglobinopathy Registry, a database of people with red blood cell disorders living in the UK which serves to inform future service provision.

In terms of how and who should communicate results to parents, it is recommended that parents should be informed by personal contact from the area’s designated healthcare professional (PHE and Sickle Cell Society 2019). Every area has a designated healthcare professional, who may be a paediatrician or a nurse, and in some high-prevalence areas, the designated nurse is a sickle cell disease specialist (PHE and Sickle Cell Society 2019). However, although this is part of the standards of care for children with sickle cell disease, this is not specifically recorded as an outcome, and anecdotal evidence suggests that there is variation in the interpretation of the standards, which leads to variation in how screening results are communicated to parents.

Factors influencing communication with parents

Confidence, knowledge and skills

Parents have reported that, when they receive a diagnosis of sickle cell disease for their newborn, it is important that the information is communicated by a confident and knowledgeable healthcare professional. Anecdotal evidence suggests that, even when adequate prenatal screening and counselling has taken place, parents may still not expect a positive result and may still find it challenging to accept it. The opportunity to ask questions and receive confident, knowledgeable and disease-specific responses is essential for them to adjust to the diagnosis (Dent and Carey 2006, Chudleigh et al 2016). Parents have also reported that being given adequate information on available treatments, and advice on how the child and family can live well with the disorder, gives them hope and therefore promotes acceptance (Ashtiani et al 2014).

Having counselling skills and disease-specific knowledge is acknowledged as essential for communicating difficult news to families (Harrison and Walling 2010). In the author’s experience, screening co-coordinators – who may be nurses or midwives – do not always feel confident in answering disease-specific questions or talking to families about treatment. Having the skills and confidence to communicate difficult news is learned over time through experience and healthcare professionals should not feel pressured to undertake this task if they feel unprepared (Harrison and Walling 2010). However, if they never communicate difficult news, they will never acquire the necessary skills and confidence.

The newborn screening programme in the UK has developed in a way that health visitors are often tasked with communicating results to parents, since they have a relationship with parents and are well placed to communicate results to them in their home. However, it has been shown that if the screening result is communicated by a health visitor without condition-specific knowledge there will be a lack of engagement between the parents with the health visitor, which, in the long term, could negatively affect the health and well-being of the child (Salm et al 2012).

Opportunities for preparation

During the prenatal screening and counselling process, there are numerous opportunities for healthcare professionals to provide future parents with information about sickle cell disease and discuss genetic risk with them. In that respect, the situation of parents at risk of giving birth to a child with sickle cell disease is different from that of parents at risk of giving birth to a child with cystic fibrosis – another autosomal recessive genetic condition children are tested for via newborn blood spot screening (NHS 2018). In the case of cystic fibrosis, there are no routine prenatal screening procedures in place in the UK, unless it is already known that one or both parents are carriers. Receiving screening results may therefore be the first time parents hear about the condition and receiving a positive result may trigger shock, disbelief and guilt (Ashtiani et al 2014, Chudleigh et al 2016). Similar feelings have been described by parents who receive the news that their newborn has sickle cell disease, which means that opportunities to prepare them for that possibility may have been missed or not have been used effectively.

Familial and cultural influences

Parents’ understanding of sickle cell disease and how it is inherited varies (Noke and Ulph 2014, Ulph et al 2015) according to the quality of the information provided – and the language used – by healthcare professionals, but also according to familial and cultural factors, including religious beliefs (Chapple et al 1997, Acharya et al 2009, Farrell and Christopher 2013, Ulph et al 2015, Keane and Defoe 2016). In some families, there is a fear of sickle cell disease, possibly due to long-held beliefs that the disorder is infectious and/or past experiences of its negative consequences for a relative, including death (Keane and Defoe 2016). Such experiences mean that, for some people, there is historically a stigma attached to sickle cell disease (Middleton et al 2018). Some parents are therefore reluctant to inform their wider family of their child’s diagnosis, which remains a ‘family secret’, and as a consequence they will not be able to receive support from their wider families (Keane and Defoe 2016).

In the author’s experience, wider family support is often limited, because parents choose not to share the diagnosis with their relatives or because their relatives live abroad. The author has also found, in her clinical practice, evidence of the influence of religious beliefs on parents’ reactions; for example, some parents explain that they have been saying prayers throughout the pregnancy and, if the child is found not to have sickle cell disease, they believe this is because their prayers have been answered.

Through education and support, healthcare professionals can reassure families that sickle cell disease is not infectious and that it can be managed successfully so that their child has a good quality of life.

Communication techniques

Farrell and Christopher (2013) examined the quality of communication likely to be received by parents when they are first informed of a positive newborn screening result for sickle cell disease or cystic fibrosis. The authors found that primary healthcare professionals used large amounts of jargon, tended not to use communication techniques such as picking up verbal or emotional cues and checking parents’ understanding, and rarely used precautionary empathy. The use of medical terminology and jargon has a profound negative effect on parents’ depth of understanding and the outcomes of appointments to discuss newborn screening results (Chapple et al 1997, Farrell and Christopher 2013).

Checking understanding is important, since parents have reported that, after having been told the diagnosis, deep feelings of shock affected their ability to process any further information during the consultation (Ashtiani et al 2014).

A clear but empathetic explanation at this point could make a significant difference to parents’ future attitudes towards, and engagement with, healthcare professionals. Conversely, ineffective and/or overcomplicated explanations could increase parents’ anxiety and misunderstanding, potentially contributing to the development of depression or other psychosocial complications, which, in turn, could negatively affect the parent-child relationship (Farrell and Christopher 2013). To have meaningful exchanges with families who find it challenging to communicate optimally in English, it is imperative to use interpreters (Tluczek and De Luca 2013).

People’s homes provide a private, familiar and comforting environment to engage with parents, while the fact that a healthcare professional has come to see them in their own home shows the value placed on their care and the care of their child. The practice of communicating positive newborn screening results to parents in their own home has been noted to have positive effects on the development of therapeutic relationships (Keane and Defoe 2016).

Service development and research

Outcomes for children with sickle cell disease have improved with the availability of hydroxycarbamide treatment (Qureshi et al 2018) and implementation of the current newborn screening programme, but there are still variations in service provision. The population of people diagnosed with haemoglobinopathies continues to increase in the UK, particularly outside London. Care needs have therefore increased but services have not kept pace. This situation has led to a review of services for sickle cell, thalassaemia and other rare inherited anaemias in England (NHS England 2018).

As a result of that review, new structures have been established: there is a new tier of oversight in haemoglobinopathy co-coordinating centres with responsibility for leadership and education, as well as a national haemoglobinopathy panel to which specialist haemoglobinopathy teams can refer patients with complex clinical issues (NHS England 2018).

Commissioners are reviewing how long-term conditions are funded and sickle cell disease could be funded like other chronic conditions, such as diabetes, with funds attached to the patient (Department of Health 2017). These are promising developments for patients and families.

The author is developing a recently commissioned nursing service for an area of low prevalence but large geographical spread, where identifying need is a priority. Although patient numbers are small compared with London, the geographical spread decreases efficiency and the current staffing of one full-time clinical nurse specialist means capacity is stretched. The author’s initial focus has been on supporting families after they receive a positive screening result. She has significant experience of developing therapeutic relationships and has received advanced communication training, but counselling skills training may be useful to enable her to deliver enhanced care at the point when parents are informed of a positive screening result.

It would be useful to explore further parents’ experiences of receiving a positive newborn blood spot screening result for sickle cell disease. A four-phase national research study is under way with the aims of co-designing, implementing and evaluating new interventions to improve the communication of positive screening results to parents (Chudleigh et al 2019). Further work with screening teams would be useful to identify their needs and inform future service development. Changing familial and cultural perceptions of sickle cell disease is a long-term process and it will be interesting to see whether the generation of patients identified through the current newborn screening programme will have different perceptions than the previous generations.

Conclusion

There are robust processes in the UK for screening newborn children for sickle cell disease, but these processes do not necessarily consider the emotional effect on parents of receiving a positive result. How a positive result is communicated to parents may affect their trust in, and engagement with, healthcare professionals, and therefore affect their child’s future health outcomes. Positive screening results need to be communicated to parents by a healthcare professional who is confident and knowledgeable about the disorder and skilled at communicating difficult news. Investment in services and staff training is needed so that communicating positive screening results for sickle cell disease is done in a more informed, consistent, empathetic and supportive way. With increased service provision, clinical nurse specialists could become more involved in the newborn screening process, access additional training and aim to provide high-quality support to parents from the outset.

Further Resources

National Haemoglobinopathy Registry

nhr.mdsas.com

Public Health England – NHS Sickle Cell and Thalassaemia Screening Programme: information and choices for women and couples at risk of having a baby with sickle cell disease

tinyurl.com/PHE-sickle-cell

NHS Screening Programmes – A parent’s guide to managing sickle cell disease

tinyurl.com/NHSSP-sickle-cell

Sickle Cell Society

sicklecellsociety.org

Sickle Cell and Thalassaemia Association of Nurses, Midwives and Allied Professionals

stanmap.org.uk

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