Psychosocial Impact of False-Positive Newborn Screening Results: A Scoping Review.

Psychosocial consequences of false-positive results following newborn bloodspot screening have been identified as a potential risk to this highly successful public health initiative. A scoping review was undertaken in October 2023 underpinned by the Arksey and O'Malley framework. Twenty-four papers were included in the review, many of which focused on cystic fibrosis. The results indicated that impact of false-positive results is variable; some studies suggest false-positive results have the potential to result in negative sequelae including increased stress and changes in parental perceptions of their child, while others suggest these impacts are transient and, in some instances, may even lead to positive outcomes. Further evidence is needed to ensure the representation of other conditions included in newborn bloodspot screening and to support strategies to overcome potential negative sequela.

International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.

There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS-specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS/CFSPID was viewed as less physically and psychologically damaging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A potential benefit to identifying more children with CRMS/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future.

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England.

The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF (n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive-inconclusive diagnosis (CFSPID), an uncertain outcome (n = 3), and adults with CF (n = 4)), and nine health professionals involved in caring for children with CF. Parents and health professionals expressed a preference for a sensitive approach to NGS. This was influenced by the importance participants placed on not missing any children with CF via screening and the balance of harm between missing a case of CF compared to picking up more children with an uncertain outcome (CRMS/CFSPID). Given the preference for a sensitive approach, the need for adequate explanations about potential outcomes including uncertainty (CFSPID) at the time of screening was emphasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening.

The impact of chemotherapy on cognitive performance post-surgery in patients with colorectal cancer: A prospective cohort study.

OBJECTIVES: Subjective reports of cognitive impairment following chemotherapy are frequent in cancer patients. Objective cognitive impairment has been observed in cancer patients regardless of treatment regimen suggesting the relationship between cognitive impairment and chemotherapy is not clear cut. Little research has explored the effects of chemotherapy on cognition following surgery in colorectal cancer (CRC). The present study explored the effects of chemotherapy on cognitive performance in a sample of CRC patients. METHODS: 136 participants were recruited into a prospective cohort study: 78 CRC patients undergoing surgery and adjuvant chemotherapy, 58 CRC patients undergoing surgery only. A battery of neuropsychological tests was administered to participants 4 weeks post-surgery (T1), 12 weeks after first chemotherapy (T2) and 3 months after last chemotherapy (T3) or equivalent time-points. RESULTS: Using the criterion of scoring at least two standard-deviations below the group norm on at least one neuropsychological test, 45%-55% of all CRC patients showed cognitive deficits 10 months after surgery (T3) and 14% on at least 3 tests. However, cognition did not significantly differ between patients who had chemotherapy and those who did not. A time by group interaction effect was found on the composite cognition score using multi-level modelling suggesting a greater improvement in cognition in the surgery only group over time (p < 0.05). CONCLUSIONS: CRC patients display cognitive impairment 10 months after surgery. Chemotherapy did not worsen cognitive impairment but did appear to slow cognitive recovery relative to those undergoing surgery only. The findings demonstrate a clear need for supportive cognitive interventions for all CRC patients following treatment.

Acceptability and Impact of an Educational App (iCare) for Informal Carers Looking After People at Risk of Pressure Ulceration: Mixed Methods Pilot Study.

BACKGROUND: Pressure ulcers are areas of skin damage resulting from sustained pressure. Informal carers play a central role in preventing pressure ulcers among older and disabled people living at home. Studies highlight the paucity of pressure ulcer training for informal carers and suggest that pressure ulcer risk is linked to high levels of carer burden. OBJECTIVE: This pilot study evaluated a smartphone app with a specific focus on pressure ulcer prevention education for informal carers. The app was developed based on the principles of microlearning. The study aimed to explore carer perspectives on the acceptability of the app and determine whether the app increased knowledge and confidence in their caring role. METHODS: In this concurrent mixed methods study, participants completed quantitative questionnaires at baseline and at the end of weeks 2 and 6, which examined caregiving self-efficacy, preparedness for caregiving, caregiver strain, pressure ulcer knowledge, and app acceptability and usability. A subsample of participants participated in a "think aloud" interview in week 1 and semistructured interviews at the end of weeks 2 and 6. RESULTS: Of the 32 participants, 23 (72%) participants completed the week 2 and 16 (50%) completed the week 6 questionnaires; 66% (21/32) of carers participated in qualitative "think aloud" interviews, and 18 (56%) also participated in semistructured interviews at week 2, and 13 (41%) at week 6. Pressure ulcer knowledge scores significantly changed (F1,6.112=21.624; P=.001) from baseline (mean 37.5; SE 2.926) to the second follow-up (mean 59.72, SE 3.985). Regarding the qualitative data, the theme "I'm more careful now and would react to signs of redness" captured participants' reflections on the new knowledge they had acquired, the changes they had made to their caring routines, their increased vigilance for signs of skin damage, and their intentions toward the app going forward. There were no significant results pertaining to improved preparedness for caregiving or caregiving self-efficacy or related to the Caregiver Strain Index. Participants reported above average usability scores on a scale of 0 to 100 (mean 69.94, SD 18.108). The app functionality and information quality were also rated relatively high on a scale of 0 to 5 (mean 3.84, SD 0.704 and mean 4.13, SD 0.452, respectively). Overall, 2 themes pertaining to acceptability and usability were identified: "When you're not used to these things, they take time to get the hang of" and "It's not a fun app but it is informative." All participants (n=32, 100%) liked the microlearning approach. CONCLUSIONS: The iCare app offers a promising way to improve informal carers' pressure ulcer knowledge. However, to better support carers, the findings may reflect the need for future iterations of the app to use more interactive elements and the introduction of gamification and customization based on user preferences.

Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.

BACKGROUND: Each year in England, almost 10,000 parents are informed of their child's positive newborn bloodspot screening (NBS) results. This occurs approximately 2 to 8 weeks after birth depending on the condition. Communication of positive NBS results is a subtle and skillful task, demanding thought, preparation, and evidence to minimize potentially harmful negative sequelae. Evidence of variability in the content and the way the result is currently communicated has the potential to lead to increased parental anxiety and distress. OBJECTIVE: This study focused on the development of co-designed interventions to improve the experiences of parents receiving positive NBS results for their children and enhance communication between health care professionals and parents. METHODS: An experience-based co-design approach was used to explore experiences and co-design solutions with 17 health professionals employed in 3 National Health Service Trusts in England and 21 parents (13/21, 62% mothers and 8/21, 38% fathers) of 14 children recruited from the same 3 National Health Service Trusts. Experiences with existing services were gathered via semistructured interviews with health professionals. Filmed narrative interviews with parents were developed into a composite film. The co-design process identified priorities for improving communication of positive NBS results through separate parent and health professional feedback events followed by joint feedback events. In total, 4 interventions were then co-designed between the participants through a web-based platform. RESULTS: Parents and health professionals provided positive feedback regarding the process of gathering experiences and identifying priorities. Themes identified from the parent interviews 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. Themes identified from the health professional interviews included communication between health professionals, process of communicating with the family, parent- and family-centered care, and availability of resources and challenges to effective communication. In response to these themes, 4 interventions were co-designed: changes to the NBS card; standardized laboratory proformas; standardized communication checklists; and an email or letter for providing reliable, up-to-date, condition-specific information for parents following the communication of positive NBS results. CONCLUSIONS: Parents and health professionals were able to successfully work together to identify priorities and develop co-designed interventions to improve 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. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.1186/s40814-019-0487-5.

Delivering Positive Newborn Screening Results: Cost Analysis of Existing Practice versus Innovative, Co-Designed Strategies from the ReSPoND Study.

Although the communication pathways of Newborn Bloodspot Screening (NBS) are a delicate task, these pathways vary across different conditions and are often not evidence-based. The ReSPoND interventions were co-designed by healthcare professionals alongside parents who had received a positive NBS result for their child. To calculate the cost of these co-designed strategies and the existing communication pathways, we interviewed 71 members of the clinical and laboratory staff of the 13 English NBS laboratories in the English National Health Service. Therefore, a scenario analysis was used to compare the cost of the existing communication pathways to the co-designed strategies delivered by (i) home-visits and (ii) telecommunications. On average, the existing communication pathway cost £447.08 per infant (range: £237.12 to £628.51) or £234,872.75 (£3635.99 to £1,932,986.23) nationally. Implementing the new interventions relying on home-visits exclusively would cost on average £521.62 (£312.84 to £646.39) per infant and £297,816.03 (£4506.37 to £2,550,284.64) nationally, or £447.19 (£235.79 to £552.03) and £231,342.40 (£3923.7 to £1,922,192.22) if implemented via teleconsultations, respectively. The new strategies delivered are not likely to require additional resources compared with current practice. Further research is needed to investigate whether this investment represents good value for money for the NHS budget.

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.

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

OBJECTIVE: To implement and evaluate co-designed interventions to improve communication of positive newborn bloodspot screening results and make recommendations for future research and practice. DESIGN: A process evaluation underpinned by Normalisation Process Theory. SETTING: Three National Health Service provider organisations in England. PARTICIPANTS: Twenty-four healthcare professionals (7 newborn screening laboratory staff and 24 clinicians) and 18 parents were interviewed. INTERVENTIONS: Three co-designed interventions were implemented in practice: standardised laboratory proformas, communication checklists and an email/letter template. PRIMARY OUTCOME MEASURES: Acceptability and feasibility of the co-designed interventions. RESULTS: Auditing 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. CONCLUSION: Variations 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 NUMBER: ISRCTN15330120.

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

OBJECTIVE: To 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. DESIGN: A qualitative exploratory design was employed using semi-structured interviews. SETTING: Thirteen NBS laboratories in England. PARTICIPANTS: Seventy-one clinicians; 22 NBS laboratory staff across 13 laboratories and 49 members of relevant clinical teams were interviewed. RESULTS: Assurance 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. CONCLUSION: The 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 NUMBER: ISRCTN15330120.