Study Design for an Evaluation of Newborn Screening for SCID in the UK

Severe combined immunodeficiency is a rare inherited disorder, which, if untreated, invariably proves fatal in late infancy or early childhood. With treatment, the prognosis is much improved. Early treatment of the siblings of cases, before they become symptomatic, has shown considerable improvements in outcomes. Based on this and the development of a test that can be used on the whole population of neonates (measurement of T-cell receptor excision circles—TRECs), many countries have added it to their routine newborn bloodspot screening programmes. The UK National Screening Committee (UKNSC) has considered whether SCID should be added to the UK screening programme and concluded that it was likely to be cost effective, but that there were a number of uncertainties that should be resolved before a national roll-out could be recommended. These include some aspects of the test, such as: cost; the use of different assays and cut-off levels to reduce false positive rates, while maintaining sensitivity; the overall benefits of screening for disease outcome in patients with SCID and other identified disorders; the need for a separate pathway for premature babies; the acceptability of the screening programme to parents of babies who have normal and abnormal (both true and false positive) screening results. To achieve this, screening of two thirds of babies born in England over a two-year period has been planned, beginning in September 2021. The outcomes and costs of care of babies identified by the screening will be compared with those of babies identified with SCID in the rest of the UK. The effect of the screening programme on parents will form part of a separate research project.

Processing of Positive Newborn Screening Results for Congenital Hypothyroidism: A Qualitative Exploration of Current Practice in England

The objective of this research was to explore current communication practices for positive newborn bloodspot screening results for congenital hypothyroidism from the newborn bloodspot screening laboratory to clinicians and then families, in order to (i) understand how the pathway is implemented in practice, (ii) highlight regional differences and (iii) identify barriers and facilitators. A qualitative exploratory design was employed using semi-structured interviews across 13 newborn bloodspot screening laboratories in England. Participants included 35 clinicians and 17 NBS laboratory staff across the 13 laboratories and 18 members of relevant clinical teams. Findings illuminated variations in how positive newborn bloodspot screening results for congenital hypothyroidism are communicated in practice. This included regional variations due to historical arrangements and local resources. Contacting the appropriate person could be challenging and obtaining feedback from clinical teams to the laboratory after the child has been seen could be time consuming for those involved. Standardised communication model(s) for positive newborn bloodspot screening results for congenital hypothyroidism, which include named contact individuals, defined pathways of care and processes for feeding back to laboratories, may help to ensure the process is less labour intensive, particularly from a laboratory perspective.

Co-designing interventions for communicating positive newborn bloodspot screening results: use of online Experience-based Co-design (Preprint)

BACKGROUND Each year in England, almost 10,000 parents are informed of their child’s positive newborn bloodspot screening result around 2-8 weeks after birth, depending on the condition. Communication of positive newborn bloodspot screening results is a subtle and skilful task, which demands thought, preparation and evidence to minimise potentially harmful negative sequelae. Evidence exists of variability in the content and the way the result is currently communicated which has the potential to lead to increased parental anxiety and distress. OBJECTIVE The main objective was to co-design interventions to improve delivery of positive newborn bloodspot screening results to families. METHODS The principles of Experience-based Co-design were used with seventeen health care professionals employed in three National Health Service Trusts in England and 21 parents; 13 mothers and 8 fathers of 14 children recruited from the same three National Health Service Trusts. Staff experiences were gathered via semi-structured interviews. Filmed, narrative interviews with parents were developed into a composite film. These data were used to identify priorities for improving communication of positive newborn bloodspot screening results to parents during firstly, separate parent and heath care professionals feedback events followed by joint parent and heath care professionals feedback events. Following this, parents and heath care professionals worked together via online co-design working groups to develop co-designed solutions and additions to existing processes. RESULTS Themes identified from the parent’s interviews included: impact of initial communication; parental reactions; attending the first clinic appointment; impact of staff communication strategies and skills; impact of diagnosis on family and friends; improvements to the communication of positive NBS results; and parents views of NBS. Themes identified from the staff interviews included: communication between health care professionals; process of communicating with the family; parent and family- centred care; availability of resources and challenges to effective communication. Three online co-design working groups were developed, each attended by 12-18 participants who had taken part in the parental or health care professionals’ interviews. The priorities included: changes to the NBS card; standardised laboratory proformas; standardised communication checklists; and an email / letter for providing reliable up to date condition specific information for parents following communication of the positive NBS result. CONCLUSIONS Variation in communication practices for positive NBS results continues to exist. This was influenced by many factors and has the potential to lead to negative sequelae from a parental perspective. Parents and health care professionals were able to successfully work together to identify priorities and develop potential solutions to improve communication of positive NBS results to parents. The adaptation of EBCD to include virtual methods could reduce costs associated with this methodology while also enabling the approach to be more responsive to health care professionals’ and patients’/parents’ busy schedules. CLINICALTRIAL ISRCTN 15330120 INTERNATIONAL REGISTERED REPORT RR2-10.1186/s40814-019-0487-5

Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)

Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is an effective strategy for the early recognition of infants with a CF diagnosis. Some infants with a positive NBS result for CF have an inconclusive diagnosis and evidence suggests the number of these infants is increasing, as more extensive gene analysis is integrated into screening protocols. There is an internationally agreed, but complex, designation for infants with an unclear diagnosis after a positive screening result: cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). Infants with a CRMS/CFSPID designation have no clinical evidence of disease and do not meet the criteria for a CF diagnosis, but the NBS result indicates some risk of developing CF or a CFTR-related disorder. In this review, we describe the accurate designation of these and reflect on emerging management pathways, with particular attention given to clear and consistent communication.Educational aimsTo clarify the definition of the global harmonised designation: cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/cystic fibrosis screen positive, inconclusive diagnosis (CFSPID).To understand what impact a CRMS/CFSPID result has for the patient and their family.

Process evaluation of co-designed interventions to improve communication of positive newborn bloodspot screening results

ObjectiveTo implement and evaluate co-designed interventions to improve communication of positive newborn bloodspot screening results and make recommendations for future research and practice.DesignA process evaluation underpinned by Normalisation Process Theory.SettingThree National Health Service provider organisations in England.ParticipantsTwenty-four healthcare professionals (7 newborn screening laboratory staff and 24 clinicians) and 18 parents were interviewed.InterventionsThree co-designed interventions were implemented in practice: standardised laboratory proformas, communication checklists and an email/letter template.Primary outcome measuresAcceptability and feasibility of the co-designed interventions.ResultsAuditing the implementation of these interventions revealed between 58%–76% of the items on the laboratory proforma and 43%–80% of items on the communication checklists were completed. Interviews with healthcare professionals who had used the interventions in practice provided positive feedback in relation to the purpose of the interventions and the ease of completion both of which were viewed as enhancing communication of positive newborn bloodspot screening results. Interviews with parents highlighted the perceived benefit of the co-designed interventions in terms of consistency, pacing and tailoring of information as well as providing reliable information to families following communication of the positive newborn bloodspot screening result. The process evaluation illuminated organisational and contextual barriers during implementation of the co-designed interventions in practice.ConclusionVariations in communication practices for positive newborn bloodspot screening results continue to exist. The co-designed interventions could help to standardise communication of positive newborn screening results from laboratories to clinicians and from clinicians to parents which in turn could improve parents’ experience of receiving a positive newborn bloodspot screening result. Implementation highlighted some organisational and contextual barriers to effective adoption of the co-designed interventions in practice.Trial registration numberISRCTN15330120.

Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines

The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions. Expertise and experiences from other NBS programs already screening for hemoglobinopathies were essential to its successful integration into the ongoing dried bloodspot NBS program in the Philippines. Building on clinical experiences and population data from Filipinos born in California, USA, hemoglobinopathies (including thalassemias) were selected for inclusion in the expanded screening panel. Hemoglobinopathy NBS, using high performance liquid chromatography, was implemented in a stepwise manner into the seven regional NBS screening laboratories. A central university laboratory provides confirmatory testing using both capillary electrophoresis and molecular methodologies. NBS results indicating carriers are followed up with educational fact sheets, while results of presumptive disease are referred for confirmatory testing and follow-up with a hematologist. Long-term care is provided through newborn screening continuity clinics across the country. Hemoglobinopathy NBS is now included in the national insurance package and screening uptake continues to increase nationally, exceeding 90% of all newborns in 7400+ hospitals and birthing centers nationwide prior to the COVID-19 pandemic.

Processing of positive newborn screening results: a qualitative exploration of current practice in England

ObjectiveTo explore current communication practices for positive newborn screening results from the newborn bloodspot screening (NBS) laboratory to clinicians to highlight differences, understand how the pathways are implemented in practice, identify barriers and facilitators and make recommendations for future practice and research.DesignA qualitative exploratory design was employed using semi-structured interviews.SettingThirteen NBS laboratories in England.ParticipantsSeventy-one clinicians; 22 NBS laboratory staff across 13 laboratories and 49 members of relevant clinical teams were interviewed.ResultsAssurance of quality and consistency was a priority for all NBS laboratories. Findings indicated variation in approaches to communicating positive NBS results from laboratories to clinical teams. This was particularly evident for congenital hypothyroidism and was largely influenced by local arrangements, resources and the fact individual laboratories had detailed standard operating procedures for how they work. Obtaining feedback from clinical teams to the laboratory after the child had been seen could be challenging and time-consuming for those involved. Pathways for communicating carrier results for cystic fibrosis and sickle cell disease could be ambiguous and inconsistent which in turn could hamper the laboratories efforts to obtain timely feedback regarding whether or not the result had been communicated to the family. Communication pathways for positive NBS results between laboratories and clinical teams could therefore be time-consuming and resource-intensive.ConclusionThe importance placed on ensuring positive NBS results were communicated effectively and in a timely fashion from the laboratory to the clinical team was evident from all participants. However, variation existed in terms of the processes used to report positive NBS results to clinical teams and the people involved. Variant practice identified may reflect local needs, but more often reflected local resources and a more consistent ‘best practice’ approach is required, not just in the UK but perhaps globally.Trial registration numberISRCTN15330120.