J Kai^*, F Ulph, T Cullinan and N Qureshi

Division of Primary Care, School of Graduate Medicine & Health, University of Nottingham, Nottingham, UK

^*Corresponding author

Background

Universal newborn screening for sickle cell (SC) disorders and cystic fibrosis (CF) has recently been implemented across England as part of the NHS newborn blood spot (heel prick) programme. The aim is early identification and treatment of babies affected by these disorders, but screening can also identify infants who are healthy carriers of the conditions.

Differences between newborn screening for SC and CF are that identification of newborn SC carriers is relatively common while identification of newborn CF carriers is rare. Also, antenatal carrier screening for SC means parents may be more prepared for the possibility of their newborn being a carrier, and this clear result is available following the newborn blood spot alone. A two-stage screening process for CF means parents experience the newborn blood spot, an initial result suggesting increased risk of CF, with need for a second blood spot sample, before being later informed their child is a carrier. Apparent carriers of CF also have a small residual risk of being affected with CF.

Knowledge of a child's carrier status and its implications may be helpful as this can have reproductive implications for the child, parents, and their wider family. Parents of infants identified as carriers must be informed of their baby's result. However there is a lack of knowledge of current practice nationally, and lack of evidence internationally to inform the most effective ways of doing so, in particular from parents' experiences.

Objectives

The study aimed to describe and explore current practice, methods and experience of communicating carrier status information following newborn screening for CF and SC disorders, to inform practice and further research. The study sought to address the following questions:

• What is current practice for communicating carrier status information following newborn screening for SC disorders and CF in England?
• What are the views of health professionals communicating carrier status information on acceptability, feasibility, and effectiveness of methods for informing parents?
• What are parents' experiences and views of how they are informed and the support they are offered?
• How well is carrier status information understood by parents?
• What is the impact on a family of being informed of newborn carrier status?
• What can we learn from existing evidence and current practice and experience about effectiveness and feasibility of methods for communicating carrier status information, and what further research is required?

Methods

A qualitative study across England using (1) a preliminary phase of semi-structured telephone interviews with child health screening co-ordinators in all nine English health regions, and thematic analysis of data; (2) semi-structured face-to-face interviews with purposeful samples of 67 family members (49 mothers, 16 fathers, 2 grandparents) of 51 infants identified by universal newborn screening as carriers of CF (n = 27) and SC (n = 24), with experience of carrier status information communicated by a range of different methods in localities across England, with data analysis by constant comparison, and subsequent respondent validation; and (3) semi-structured telephone interviews, and focus groups, with a key informant sample of 16 differing health professionals currently tasked with communicating results to parents in a range of ways, with thematic analysis of data. In parallel, existing evidence was reviewed, focusing on methods of communicating newborn carrier information.

Results

Methods for and respondents' experiences of communication of carrier results varied considerably within and between regions, and within and between SC and CF contexts. Approaches ranged from letter or telephone call alone, to in-person communication in the clinic or at home, with health professionals from haemoglobinopathy, CF, screening and genetics backgrounds, or from community and primary care, such as health visitors with SC carrier results. Health professionals identified pros and cons of different methods, preferring opportunity for face-to-face communication with parents where possible, particularly for CF carrier results. They were concerned by regional variations in protocols, the lack of availability of translated information on SC carrier results, and the feasibility of sustaining more 'specialist' involvement at current levels, particularly for SC carriers. They were positive about involvement of primary care based generalists if appropriately supported, but felt this may be less feasible for rarer and potentially more complex CF results.

Parents were often poorly prepared for the possibility of a newborn carrier result. Some had felt overloaded by screening information received during pregnancy or prior to newborn screening, or found this information failed to meet their needs. They sought timely and specific information at each successive stage of the screening and communication pathway.

Opportunity for face-to-face communication of results was valued by parents of SC carriers and appeared particularly necessary for those without prior knowledge of SC carrier status or where English was not their first language. Indirect communication of results by letter appeared effective and feasible for parents more aware of SC carrier status from antenatal or earlier experience, and where this communication contained an unambiguous opening statement emphasising 'your child is not ill'. Face-to-face communication of CF carrier results by professionals with screening, CF or genetics backgrounds worked well for parents, but communication and information was crucially lacking at the earlier stage of repeat blood spot testing, which involved midwives or health visitors who could be uncertain of the CF screening process, creating considerable distress among half of respondents.

Rather than learning of their newborn's carrier status in itself, untoward anxiety or distress among parents appeared influenced firstly by how information and communication was offered to them during the screening process, and secondly if they had less prior awareness of carrier status or the possibility of a carrier result. Parents could fear their child had a serious problem, particularly while awaiting results or before seeing a professional, and be left in an information vacuum. Parental distress and anxiety appeared mostly transient, subsiding with understanding of carrier status and communication with a professional. Only a minority of parents appeared to have continued concerns about their child.

Respondents had no particular preference for the type of health professional who communicated results to them, as long as they were well informed and could answer their queries. Parents who had received written information about carrier results found this useful for reference and for discussion with their families. However, this information could be insufficiently detailed for some, and poorly accessible in content and language for others.

Parents regarded carrier results as valuable information gained fortuitously. They sought to share this with their extended families and to inform their children in the future. Respondents felt community awareness and information about SC and CF could be improved. Although there was some evidence of misconceptions about SC, most parents understood the benign implications of carrier status and that it may impact on future reproductive decisions. However, parents needed greater support after communication of results in considering and accessing cascade testing, and negotiating further communication within their families. Extended families' reception of carrier information ranged from being supportive to negative reactions or avoidance of the news.

Conclusions

Methods of communication of newborn carrier results vary considerably across England. Parents' needs for timely and appropriate information may not be met consistently or adequately. Respondents' experiences suggest a need for greater recognition of communication with individuals occurring across a screening pathway, rather than as a discrete event.

Implications for health care

Current practice could be enhanced by improving pre-screening information to include the prevalence of SC and CF carrier status, the common possibility of a newborn SC carrier result, and what to expect in relation to a repeat blood spot; recognition that the effectiveness and acceptability of communication of results indirectly by letter or in person may vary according to individuals' prior awareness or language needs; and provision of translated forms of SC carrier result information. In communication of CF screening, clear specification of information for provision to parents at the time of repeat blood spot testing is needed, with explicit guidance for communication by professionals undertaking this test; and in-person communication of carrier results by a well-informed professional.

Growth in carrier identification following expansion of newborn screening programmes may increase demand on those with condition-specific or genetics expertise. According to local contexts, such as prevalence of SC, the potential for greater involvement of primary care based professionals within mixed models of communicating carrier information could be explored; and a locality-based screening practitioner role operating across programmes to provide support for parents, and liaison with other professionals, during screening and following screening results, could be further developed.

Recommendations for research

Further research is needed to: (a) design and evaluate specific information for parents approached for a repeat blood spot in CF screening; (b) explore the value of refining current pre-screening information to better prepare parents for the possibility of carrier identification; (c) develop and evaluate the accessibility and acceptability of translated forms of standardised SC carrier result information; (d) prospectively study or audit practice with the further establishment of screening programmes; (e) investigate how health professionals use and present information across the screening pathway; (f) develop and evaluate support and training for health professionals involved in screening to be able to communicate relevant information; (g) examine the use of differing mixed service models according to local contexts; (h) investigate parents' attitudes towards, access to and experience of further carrier testing for themselves or their other children, and its impact on later reproductive decisions; (i) develop and evaluate methods to support cascade testing and communication of carrier information with children and families; (j) explore the uptake of information and counselling, community awareness and its influence on the screening experience; and (k) further experience of families over time to enable greater understanding of longer term benefits or harm of newborn carrier identification.

Publication

Kai J, Ulph F, Cullinan T, Qureshi N. Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice. Health Technol Assess 2009;13(57).

NIHR Health Technology Assessment programme

The Health Technology Assessment (HTA) programme, part of the National Institute for Health Research (NIHR), was set up in 1993. It produces high-quality research information on the effectiveness, costs and broader impact of health technologies for those who use, manage and provide care in the NHS. 'Health technologies' are broadly defined as all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long-term care.

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