Newborn bloodspot screening (NBS) in England involves collecting a small sample of blood on a special card from a baby’s heel on day 5 of their life. This is then sent to an NBS laboratory to be analyzed. Positive NBS results are reported to relevant clinical teams, often using locally developed proformas [1] who then communicate the result to the family. Each year in England, almost 10,000 parents are informed of their children’s positive NBS results approximately 2 to 8 weeks after birth depending on the condition [2,3]. The purpose of NBS is to identify presymptomatic babies affected by one of 9 conditions currently screened for to enable treatment to be initiated early to improve outcomes for the child. The conditions are sickle cell disease (SCD), cystic fibrosis (CF), congenital hypothyroidism, phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease (MSUD), isovaleric acidemia, glutaric aciduria type 1, and homocystinuria (pyridoxine-unresponsive)—the latter 6 collectively referred to as inherited metabolic diseases. The clinical spectrum in screen-positive cases varies enormously and, consequently, the message to parents needs to be carefully crafted to prepare for a range of outcomes.

Communication of positive NBS results is a subtle and skillful task that demands thought, preparation, and evidence to minimize potentially harmful negative sequelae [4-8]. For instance, the perceived lack of knowledge of the person communicating the NBS result rather than the actual result has been linked to parental distress [4]. Poor or inappropriate communication strategies for positive NBS results can also influence parental outcomes in the short term [4-7,9,10] but may also have a longer-term impact on children and families [8]. Evidence suggests that the distress caused can manifest in several ways, including arguments between couples, apportioning of blame [4,6,11], alteration of life plans and inability to conduct tasks of daily living such as going to work or socializing [4], long-term alterations in parent-child relationships [8], and mistrust and lack of confidence affecting ongoing relationships with health care staff [6]. There is also evidence of increased parental concern resulting in parents reducing their child’s interaction with others, particularly in the case of CF [4]. Parents also experience poor intra- and interpersonal relationships within their family systems and more widely [12].

This supports the importance of ensuring that the initial communication of positive NBS results is handled sensitively and considers individual parent characteristics to minimize parental distress and the consequences of this distress, as well as the knowledge and experience of the person imparting the result. The choice of approach is, to some extent, influenced by the seriousness of the condition identified and the need for an immediate or less immediate response. In one study, parents who had received the screening results from a CF specialist were more satisfied than those who had received the screening results from the maternity ward [13]. In another study, information received by telephone was less satisfactory to parents of children diagnosed with CF (odds ratio 2.23; P=.04) or parents of younger infants (odds ratio 0.93 per day older; P=.001) [10]. Results delivered over the phone by staff not known to the families or without condition-specific knowledge were viewed less favorably and contributed to parental dissatisfaction, anxiety, and distress [9].

Recognizing the need to work with parents and health professionals to improve this communication, the Rethinking Strategies for Positive Newborn Bloodspot Screening Result Delivery: a process evaluation of co-designed interventions project sought to develop, implement, and evaluate new interventions to improve the delivery of initial positive NBS results to parents. This mixed methods study comprised 3 main phases. Phase 1 involved a national survey using telephone interviews to explore current approaches to the communication of positive NBS results [14] and inform the selection of 2 study sites for the remaining phases. The second phase used the principles of experience-based co-design (EBCD) to explore health professionals’ and parents’ experiences of delivering and receiving positive NBS results, respectively. Findings from interviews with health professionals have been published elsewhere [1]; sections of this paper related specifically to these findings have been reproduced from BMJ Open under license CC-BY-4.0. In addition, EBCD was used to develop interventions for communicating positive NBS results to parents. In phase 3, the interventions were evaluated in 2 selected case study sites (2 NBS laboratories that served 3 National Health Service [NHS] Trusts in England) [15].

The aim of the research reported in this paper was to describe the use of a modified version of EBCD during phase 2 to develop co-designed interventions to improve the experiences of parents receiving positive NBS results for their children and enhance the communication between health care professionals and parents.

This formative study was underpinned by family systems theory (FST) [16] because of the potential vulnerability of family relationships if the initial positive NBS result information is not shared as effectively and empathetically as possible [17]. In FST, all components of the family are regarded as interdependent—what happens to one member will affect all other members of the family directly and indirectly. FST postulates that family functioning has the potential to be affected by an event such as the communication of the initial positive NBS result and, subsequently, facilitating the coping mechanisms used and the adaptation of families to the NBS result is paramount.

The co-design process was informed by the EBCD toolkit [18]. EBCD was selected because of its focus on service users and health professionals working in partnership to develop and improve health services. This was felt to be particularly appropriate as family-centered care, which includes working in partnership with the family, is the principal philosophy of pediatric care in many countries worldwide [19]. EBCD is an approach to improving health care services that draws on participatory design and user experience to bring about quality improvements in health care organizations [20]. This involves focusing on and designing patient or carer experiences rather than just systems and processes [21-23]. The co-design process enables staff, patients, and carers to reflect on their shared experiences of a service and then work together to identify improvement priorities, devise and implement changes, and then jointly reflect on their achievements. EBCD was piloted in an English head and neck cancer service in 2005 [21]. After a subsequent project in an integrated cancer unit, a web-based toolkit [18] was developed as a free guide to implement the approach. A recent systematic review identified 20 studies that had used EBCD mainly in mental health and cancer services in the United Kingdom. This review highlighted variations in the use of EBCD, with many of the studies eliminating or modifying some of the EBCD stages. It has been recognized that the disadvantages of EBCD include it being time-consuming and expensive. Until recently, EBCD had mainly been used with adult service users or their carers or family members. The use of EBCD with parents with or without the participation of their children is still quite novel, having only been explored more recently and with adaptations to the process [24-26]. Therefore, this study also builds on knowledge of using this method with parents.

The EBCD process was modified to gather parents’ and health professionals’ experiences and agree on areas for improvement in the communication of positive NBS results to families. It followed four stages (Figure 1): (1) engaging health professionals and gathering experiences (the findings from health professional interviews have been published elsewhere [1]), (2) engaging parents and gathering their experiences, (3) bringing parents and health professionals together to share experiences and identify priorities for improvement, and (4) web-based co-design activities.

Patient and Public Involvement (PPI) was instrumental in the design and conduction of this study. A total of 8 parents of babies who had received a positive NBS result for one of the 9 screened conditions formed a PPI group that met every 6 months for the duration of the study. Their suggestions were incorporated into the study design, data collection tools, and data analysis and dissemination. The PPI group was presented with data from the annual reports of the NBS programs and made suggestions as to which sites should be used during the co-design process. In addition, views of representatives from charities for the screened conditions, including Metabolic Support UK, the British Thyroid Foundation, the CF Trust, and the Sickle Cell Society, were also incorporated.

All potential participants were given the choice to take part or not and were reminded of their right to withdraw from the study at any time. Written informed consent was obtained from all participants. This study is part of a larger program of work [35] and was approved by the London – Stanmore Research Ethics Committee (17/LO/2102).

A total of 5 themes were identified from the interviews with health professionals: communication between health professionals, process of communicating with the family, parent- and family-centered care, and availability of resources and challenges to effective communication. Data from the interviews with health professionals have been published in full elsewhere [1].

Themes identified from the interviews with parents included impact of initial communication, parental reactions, attending the first clinic appointment, impact of health professionals’ communication strategies and skills, impact of diagnosis on family and friends, improvements to the communication of positive NBS results, and parents’ views on NBS. The findings were presented as a composite film (available via the study blog [36]) to capture and illustrate parents’ experiences of receiving their children’s positive NBS results and provide rich information to guide the co-design activities. The film is presented in 7 sections that reflect the stages of parental experiences and their journeys through screening. The common experiences or touch points for parents that were reflected in each section of the film are summarized in Textbox 2.

During a facilitated discussion after watching the film of parental experiences, feedback from parents and health professionals was narrowed down to a short list of priorities for them to explore together to improve communication. These are summarized in Table 1.

During the joint parent and health professional groups, the participants narrowed down the initial priorities (Table 1). Through discussions and shared expertise on the potential causes of communication issues, they decided on the focus of each of the co-design working groups. This is summarized in Table 2.

The participants agreed that changes to the NBS card (completed during the heel prick test by the midwife) were required to address the challenge of having all the information necessary to contact the family (1) in a timely (condition-specific) manner and (2) according to parental preferences.

There was also a focus on standardized laboratory proformas for use in the NBS laboratories. This focus emerged from a need for consistent and thorough information to be relayed to clinical teams to facilitate making contact with the child’s family following a positive NBS result.

Parents recognized inconsistent communication approaches. It was agreed that standardized communication checklists for health care professionals would guide conversations throughout the screening journey and support health professionals with less condition-specific knowledge or experience.

A template email or letter to the parents was proposed as the fourth intervention. This would be sent by the clinical team after the initial communication with the parents. The purpose would be to provide reliable up-to-date, condition-specific information for parents following the communication of the positive NBS result.

Through the co-design process, ideas and documentation were reviewed and iterated through the Basecamp platform until a consensus was reached regarding the suitability of the proposed interventions. Overall, there were 6 iterations of the NBS card, 5 iterations of the laboratory proformas, 8 iterations of the communication checklists, and 6 iterations of the email or letter for providing information to parents following the communication of the positive NBS result. Examples of the final versions are outlined in the following sections.

The final version of the proposed NBS card included the addition of parents’ preferred method of contact. This aimed to prompt conversation between midwives and parents at the time the NBS sample was taken regarding the possibility of them being contacted in the future if the results were positive as well as to ensure that parents were involved in the decision about how they might be contacted. Alternative contact details of a significant other were also added to act as a second line of contact should a clinician be unable to reach the mother following the NBS result. The parents’ email addresses were added to aid future communication and contact. Finally, the option to add information related to any hearing or sight impairments or language needs that might hinder future communication with parents was added to the NBS card. The changes and additions are shown in Figure 4.

The standard laboratory proformas built on those developed by the Department of Clinical Chemistry and Newborn Screening at the Sheffield Children’s NHS Foundation Trust. The proformas were condition specific and included a front page that was mainly intended for completion by the NBS laboratory and a section for completion by the clinicians to be fed back to the NBS laboratory. On the reverse side, there was a reminder of the current referral guidelines, more information about the child’s NBS result, and a checklist focused on steps in the referral process. Additions as a result of the co-design process included information related to recommended actions following a positive NBS result for each condition and a comment section to allow clinicians to record suggested condition-specific relevant information (Figure 5).

The communication checklists were initially intended to focus on the initial communication of the positive NBS result. However, during the co-design working groups, the participants indicated that they would like the checklists for each stage of the families’ NBS journey to include the initial communication (Figure 6), the initial clinic visit, and subsequent clinic visits. It was thought that this would enable all information about the child and family’s NBS journey to be recorded in one place. This would also act as an aide-mémoire for subsequent clinicians when seeing the child and family and mitigate the need for parents to recount their story to different clinicians. The initial communication checklists were built on those developed by the CF teams at Sheffield Children’s Hospital and King’s College Hospital and the Newborn Screening Team at Birmingham Children’s Hospital to include more detailed condition-specific information as well as optional information that could be included if deemed appropriate. The checklists for subsequent clinic visits were developed with clinical teams and parents during the co-design process.

The email or letter template was intended to be sent to parents immediately after the initial communication of the positive NBS result. These built on those developed by the pediatric metabolic clinical nurse specialists at St Thomas Hospital. The purpose was to congratulate parents on the birth of their baby, reiterate why they had been contacted about the NBS, and provide details regarding what would happen next, including details of when and where they needed to take their baby for confirmatory testing. It was also recommended that reliable condition-specific links to information sources be included. The text was drafted and revised with input from the co-design working group until they agreed that the language and style of communication were appropriate and all information for all 9 conditions currently screened for was included.

The participants were asked to reflect and provide feedback on their experience of the EBCD process using the template provided by the EBCD toolkit [18]. This included a 5-point Likert-type scale ranging from excellent to very poor. All parents (21/21, 100%) rated viewing the composite film of parents’ experiences as excellent, their experience of being filmed as good or excellent, meeting other parents and talking about their experiences as excellent, and the emotional mapping exercise as good or excellent. They felt that the priorities agreed upon at the end of the parent event reflected their own experiences of what needed to be improved. A total of 29% (5/17) of the health professionals provided feedback and indicated that their overall impression of the health professional feedback event was excellent and an excellent way to reflect on experiences at work.

Consistent with previous research [9,10,13,39-42], parents in this study reported receiving NBS results in a range of ways, including face-to-face and via telephone and SMS text message, from a variety of clinicians, including nurses, physicians, and health visitors. The method used is, to some extent, influenced by the seriousness of the condition identified and the need for an immediate or less immediate response. MSUD and sickle cell carrier status would, for instance, be expected to be treated very differently in relation to the approach adopted. Furthermore, the content of the communication was less well defined and was, to some extent, determined by the person delivering the result. Current UK guidance states that the health professional delivering the news should be “appropriately trained” [43,44]. This is important as, similar to previous research [4,9,13,39,45], knowledge of the person communicating the result was considered important in this study to provide reassurance and allay parental fears.

In addition, parents in this study expressed the importance of the personal and professional attributes of the person delivering the news. In terms of personal attributes, this included being kind, empathetic, and supportive (physically and verbally) and possessing effective communication skills that allowed them to appropriately pace and tailor the information given and take the necessary time to explain the condition and answer parental questions. In terms of professional attributes, this included being perceived as a specialist, being credible, and working in an organization recognized as a center of excellence. The importance placed on knowledge and attributes of the person communicating the positive NBS result to families provides further support for the widespread use of specialist screening nurses who not only have knowledge of all conditions included in NBS but have also undergone relevant training related to breaking bad news and possibly even have counseling skills.

As previously reported [13,39], positive NBS results were associated with negative parental reactions, including feeling nausea, shock, disbelief, fear, and sadness. Previous research has reported the impact on parents [4,6,11] as well as on parent and child relationships [8] and family relationships [46,47]. This was reflected in the results of this study as parents talked about the impact on their relationship with the affected child, including being scared to bond with their child and the fear of being overprotective. In this study, the impact of the diagnosis on parental relationships ranged from bringing them closer together to causing a strain on the parental relationship. Parents also talked about the impact of sharing the news with family and friends; associated with this were feelings of responsibility, guilt, and a lack of understanding.

The experiences of health professionals delivering positive NBS results have been published elsewhere [1]. In summary, health professionals invested a lot of time and energy ensuring that the communication of positive NBS results to families was parent- and family-centered, but this could be influenced by the challenges they experienced, including inadequate information on the NBS card and parental reactions. As mentioned, a variety of methods for the delivery of positive NBS results have been reported previously [9,10,13,39-42] that are often determined by the seriousness of the condition. In this study, it became apparent that this was also to some extent dependent on local arrangements. The COVID-19 pandemic meant that telemedicine rapidly and unexpectedly became the medium for health consultations that had previously taken place face-to-face. Other research has indicated that staff found the use of telemedicine for the delivery of NBS results during the COVID-19 pandemic safe and effective [48], and recipients also considered it an acceptable alternative to face-to-face communication. Therefore, going forward, this may be an acceptable means of delivering positive NBS results to families that could be time-saving and, therefore, cost-effective if the content is well considered and the person delivering the result is knowledgeable about the relevant condition.

In addition to parental experiences, this study furthers our understanding of health professionals’ experiences with communicating positive NBS results to families. Health professionals involved in communicating positive NBS results are passionate about making sure that, although the message is distressing for parents, it is communicated well. Variations in communication practices continue to exist and are influenced by many factors, including the resources available and the lack of clear guidance. This affected not only the methods used to communicate positive NBS results but also the content of the communication to parents. This is supported by previous research conducted both nationally and internationally [4,6,41,49] suggesting that further guidance may be needed to ensure a more cohesive approach that meets the needs of parents and health professionals while being sensitive to the subtleties of each condition. However, the issue of finite resources and the need to prioritize them also requires careful consideration. Nevertheless, with clear evidence of the deleterious effects of poor communication practices on parents [4-12], this variability is neither reasonable nor conducive to building a positive rapport with families. This is vital to ensure concordance with treatment regimens and trust in health professionals to maximize outcomes for the children.

To respond to the experiences and issues raised by parents and health professionals, EBCD, an established technique for gathering experiences and for co-design, was used [20-22,27,32,50-52]. It has been applied for the first time in this study to explore parents’ and health professionals’ experiences with the communication of positive NBS results. The process has enabled the prioritization of stakeholder requirements and the identification of co-designed solutions and additions to existing processes.

The co-designed interventions (changes to the NBS card; condition-specific, standardized laboratory proformas; condition-specific communication checklists; and an email or letter template to provide information to families following the communication of a positive NBS result) tackled different stages of the screening journey and areas where the participants felt that communication could be improved to minimize the anxiety and uncertainty experienced. These tools have been tailored to guide health professional communication with the aim of providing a more consistent experience. The interventions have subsequently been piloted at 2 sites; findings from this have been published elsewhere [15].

EBCD can be time-consuming and logistically challenging [27]; modifying the process has been shown to reduce costs [27]. The Rethinking Strategies for Positive Newborn Bloodspot Screening Result Delivery: a process evaluation of co-designed interventions project has been delivered during the COVID-19 pandemic; this has presented challenges in terms of bringing parents and health professionals together, a challenge that may continue for some time worldwide. We have adapted to these circumstances by using Basecamp as a collaborative tool enabling web-based EBCD outside the health care setting.

This is the first known study that has explored communication pathways for positive NBS results from the laboratory to parents via clinical teams. Health professionals were recruited from clinical teams involved in managing all the conditions currently included in the NBS program. This increases the transferability of the study findings as previous work has mainly focused on CF and SCD. This is the only known study that has used EBCD to bring stakeholders together to develop co-designed interventions to improve the communication of positive NBS results.

In terms of limitations, health professionals were recruited via email; those with a pre-existing interest in this topic may have been more likely to self-select into the study. They may communicate results differently from providers who did not participate in the study, which may have biased the findings. However, health professionals were recruited from clinical teams involved in managing all the conditions currently included in the NBS program, which could have contributed to both the depth and breadth of the data collected. The researchers are experienced in this field, which may have biased data collection and analysis. Most parent participants were White British, which may limit the transferability of the findings.

COVID-19 has meant that web-based consultations via platforms such as Microsoft Teams and Zoom are being used to communicate with families about their children’s positive NBS results. These have been described as an approximation to face-to-face interaction and are considered a visual upgrade of telephone consultations [53]. Initial studies that have explored these as a means of communicating positive NBS results to families suggest that they could be a safe and effective method for the delivery of positive NBS results to families [15,48]. Evidence suggests that video consultations (often referred to as telemedicine) have been viewed more favorably than telephone consultations [54]. The benefits of building rapport before using web-based approaches were found during teleconsultations in primary care during the lockdown [55]. The opportunities for using these web-based methods in NBS require further exploration to ensure that they are used appropriately, that the content of the message continues to be carefully crafted, and that the people involved are knowledgeable about the specific condition. However, a hybrid approach could act as a potential solution to address parental preferences, in particular face-to-face communication with their significant other present, communication via a condition-specific expert, and the clinical need for the timely provision of results.

In addition to the delivery of health care remotely, the pandemic has required web-based research and development. The adaptation of EBCD to include web-based methods could reduce costs while being easier to schedule. Adopting a web-based approach also has the potential to mitigate the imbalance of perceived power hierarchies [34] when patients and health professionals work together or, conversely, make it challenging to build a rapport. In this study, we benefited from the early stages of the process being run face-to-face, enabling relationships to develop. It is likely that a blended approach including face-to-face and web-based methods would help build effective relationships while offering flexibility and adaptation to the needs of parents (eg, childcare needs) and health professionals (eg, busy schedules). We argue that, as hybrid or blended ways of working are of increasing focus, the consideration and evaluation of different models of delivery for application in health care design would be beneficial.

Staff involved in communicating positive NBS results are passionate about making sure that, although the message is distressing for parents, it is communicated well. Despite this, variations in communication practices continue to exist. This is influenced by many factors, including the resources available and the current lack of clear guidance. Parents and health professionals were able to successfully work together to share experiences, identify priorities, and develop potential solutions to improve the communication of positive NBS results to parents. The resulting co-designed interventions address communication at different stages of the communication pathway to improve the experiences of parents receiving positive NBS results for their children. Adopting a hybrid approach to EBCD that incorporates web-based co-design working groups could enhance the success of future EBCD projects.