Louise Moody

Background: In 2021, the UK National Screening Committee commissioned an evaluation of newborn bloodspot screening for severe combined immunodeficiency (SCID) in England. This paper describes the experiences of parents who received an SCID or non-SCID T-cell lymphopenia (non-SCID TCL) result for their baby during the evaluation. Methods: A qualitative exploratory design was employed using semi-structured interviews with 12 parents (n = 5 who had received an SCID outcome and n = 7 who had received a non-SCID TCL following SCID NBS). Results: The impact on parents whose baby was diagnosed with SCID was complex, reflecting the experience of receiving a presymptomatic diagnosis. Parents of babies who had been diagnosed with a non-SCID TCL viewed their baby’s result in terms of risk; while their baby might still have a serious immunological condition, it was not considered to be as serious as SCID. All parents reported that they valued their participation in the SCID screening evaluation. Conclusions: Support for families following a positive screening result for SCID needs to be considered. This includes tailored psychosocial support, given their experiences will not be the same as those of parents of non-screened babies with SCID.

The project aimed to explore the psychosocial impact on parents of receiving a false-positive outcome following a positive newborn bloodspot screening (NBS) result for SCID for their child. A mixed-methods design was employed using semi-structured interviews and standardised health-related questionnaires (EQ-5D-5L, ITQOL-47, and GAD-7). The participants were recruited from six National Health Service hospital trusts in England involved in the NHS England In-Service Evaluation of Screening for SCID. A total of 22 interviews were conducted with 28 parents. Health-related questionnaire data were collected from 26 of these parents. The interviews were analysed using a reflexive deductive approach to thematic analysis. For the health-related questionnaire data, a comparison of group means against population norms was undertaken using t-tests with unequal variances. The findings from the interviews showed that receiving a false-positive outcome following a positive NBS SCID result could cause parents to have an enhanced view of their child’s vulnerability in the short term. However, negative sequelae were largely mitigated as parents viewed their child’s exposure to ‘normal’ infections as evidence of a functional immune system. The health-related questionnaire data showed that the parents had significantly worse health than the population norm (as indicated by EQ-VAS: p = 0.0296); however, all the other measures were non-significant. More research is needed to explore the potential longer-term psychosocial impact of a false-positive screening result for SCID on parents beyond their child’s first year of life.

Background: The aging population has resulted in more people living longer with musculoskeletal conditions who require hip and knee replacement surgery. Lengthening waiting lists continue to be a challenge for patients and health care services. Objective: This pragmatic study aimed to develop and test a digital self-management intervention (the HOPE [Help Overcome Problems Effectively] program) to better prepare patients waiting for hip and knee replacement surgery. Methods: The study used a pragmatic, pre-post with follow-up, single-arm design. All intervention and data collection components were delivered online. Patients were recruited from those on the waiting list for hip or knee surgery. Following iterative co-development of the intervention, the content was refined and optimized into a final version for testing. The resulting program was an 8-week intervention delivered via the HOPE 4 The Community (H4C) digital platform (powered by H4C). Data were collected at baseline (pre-HOPE program), 8 weeks (post-HOPE program), and 6-month follow-up. Patient-reported outcome measures related to preparation for surgery, quality of life, physical function, pain, mental well-being, self-efficacy, and physical activity. Resource usage data were collected to calculate health and social care costs. System Usability Scale data were collected post-HOPE program. Results: One hundred participants enrolled in the HOPE program. Of these, 57 (57%) consented to take part in the evaluation and returned the baseline questionnaire. Thirty-nine participants completed ≥5 of the 8 sessions and all surveys. Among the 25 participants who had surgery at 6 months, 23 (92%) felt better prepared due to the HOPE program. Median improvements in most outcomes were observed at 8 weeks, with several continuing to improve at 6 months. The Friedman test showed significant improvements over 6 months in self-efficacy (pain: P =.002; other symptoms: P <.01), pain ( P =.04), health status ( P =.02), and mental well-being ( P =.01). No significant changes were noted in physical activity. While the early cost analysis did not reach statistical significance, it indicated potential cost savings from reduced patient interactions with health care professionals. Sixty-four percent (25/39) of participants had surgery, and this likely contributed in part to improvements in outcomes. System usability was rated above average (mean score 70.1, SD 15.9). Conclusions: The results are promising in relation to participants attending the HOPE program feeling better prepared for surgery. A fully powered efficacy and cost-effectiveness trial is needed to determine the contribution of the HOPE program to outcomes, over and above the contribution of surgery.

Background: Newborn screening aims to identify babies affected by rare but serious genetic conditions. As technology advances, there is the potential to expand the newborn screening program following evaluation of the likely benefits and drawbacks. To inform these decisions, it is important to consider the family experience of screening and the views of the public. Engaging in public dialogue can be difficult. The conditions, screening processes, and associated moral and ethical considerations are complex. Objective: This study aims to develop a stand-alone online resource to enable a range of stakeholders to understand whether and how next-generation sequencing should be incorporated into the CF screening algorithm. Methods: Around 4 development workshops with policymakers, parents, and other stakeholders informed the design of an interactive activity, including the structure, content, and questions posed. Stakeholders were recruited to take part in the development workshops via purposeful and snowball sampling methods to achieve a diversity of views across roles and organizations, with email invitations sent to representative individuals with lived, clinical, and academic experience related to CF and screening. Ten stakeholders informed the development process including those with lived experience of CF (2/10, 20%), clinicians (2/10, 20%), and representatives from relevant government, charity, and research organizations (6/10, 60%). Vignettes constructed using interview data and translated into scripts were recorded to provide short films to represent and provoke consideration of families’ experiences. Participants were recruited (n=6, adults older than 18 years) to test the resulting resource. Study advertisements were circulated via physical posters and digital newsletters to recruit participants who self-identified as having a reading difficulty or having English as a second language. Results: An open access online resource, “Cystic Fibrosis Newborn Screening: You Decide,” was developed and usability and acceptability tested to provide the “user” (eg, a parent, the general public, or a health care professional) with an interactive scenario-based presentation of the potential outcomes of extended genetic testing, allowing them to visualize the impact on families. This included a learning workbook that explains key concepts and processes. The resulting tool facilitates public engagement with and understanding of complex genetic and screening concepts. Conclusions: Online resources such as the one developed during this work have the potential to help people form considered views and facilitate access to the perspectives of parents and the wider public on genetic testing. These may be otherwise difficult to obtain but are of importance to health care professionals and policymakers. Trial Registration: ClinicalTrials.gov NCT06299566; https://clinicaltrials.gov/study/NCT06299566

BACKGROUND The ageing population has resulted in more people living for longer with musculoskeletal conditions who are in need of hip and knee replacement surgery. Lengthening waiting lists are increasingly a challenge for patients and healthcare services. OBJECTIVE This pragmatic study aimed to develop and test a digital self-management intervention (the Hope Programme) to better prepare patients waiting for hip and knee replacement surgery. METHODS The study employed a pragmatic, pre-post with follow-up single-arm design. All intervention and data collection components were delivered online. Following iterative co-development of the intervention, the content was refined and optimised into a final version for testing. The resulting programme was an eight-week intervention delivered via the Hope 4 The Community Interest Company (H4C) digital platform. Data were collected at baseline (pre Hope Programme), 8 weeks (post Hope Programme) and 6 months follow-up. Patient-reported outcome measures related to preparation for surgery, quality of life, physical function, pain, mental wellbeing, self-efficacy and physical activity. Resource utilisation data were collected to calculate the health and social care costs. System Usability Scale data and qualitative satisfaction data were collected post Hope Programme. RESULTS Thirty-nine participants completed ≥5 of the 8 sessions and all surveys. Among the 25 participants who had surgery at 6 months, 92% felt better prepared due to the Hope Programme. Median improvements in most outcomes were observed at 8 weeks, with several continuing to improve at 6 months. The Friedman test showed significant improvements over 6 months in self-efficacy (pain: P=.002, other symptoms: P<.001), pain (P=.037), health status (P=.022), and mental wellbeing (P=.010). No significant changes were noted in physical activity. While the early cost analysis did not reach statistical significance, it indicated potential cost savings from reduced patient interactions with healthcare professionals. Sixty four percent (25/39) of participants had surgery and this likely contributed in part to improvements in outcomes. System usability was rated above average (mean score 70.1), and post-programme feedback was positive, highlighting peer support, coping strategies, and better preparation for surgery. CONCLUSIONS The results are promising in relation to participants attending the Hope Programme feeling better prepared for surgery. A fully powered efficacy and cost effectiveness trial is needed to determine the contribution of the Hope Programme to outcomes, over and above the contribution of surgery.

BACKGROUND Newborn screening aims to identify babies affected by rare but serious genetic conditions. As technology advances, there is the potential to expand the newborn screening program following evaluation of the likely benefits and drawbacks. To inform these decisions, it is important to consider the family experience of screening and the views of the public. Engaging in public dialogue can be difficult. The conditions, screening processes, and associated moral and ethical considerations are complex. OBJECTIVE This study aims to develop a stand-alone online resource to enable a range of stakeholders to understand whether and how next-generation sequencing should be incorporated into the CF screening algorithm. METHODS Around 4 development workshops with policymakers, parents, and other stakeholders informed the design of an interactive activity, including the structure, content, and questions posed. Stakeholders were recruited to take part in the development workshops via purposeful and snowball sampling methods to achieve a diversity of views across roles and organizations, with email invitations sent to representative individuals with lived, clinical, and academic experience related to CF and screening. Ten stakeholders informed the development process including those with lived experience of CF (2/10, 20%), clinicians (2/10, 20%), and representatives from relevant government, charity, and research organizations (6/10, 60%). Vignettes constructed using interview data and translated into scripts were recorded to provide short films to represent and provoke consideration of families’ experiences. Participants were recruited (n=6, adults older than 18 years) to test the resulting resource. Study advertisements were circulated via physical posters and digital newsletters to recruit participants who self-identified as having a reading difficulty or having English as a second language. RESULTS An open access online resource, “Cystic Fibrosis Newborn Screening: You Decide,” was developed and usability and acceptability tested to provide the “user” (eg, a parent, the general public, or a health care professional) with an interactive scenario-based presentation of the potential outcomes of extended genetic testing, allowing them to visualize the impact on families. This included a learning workbook that explains key concepts and processes. The resulting tool facilitates public engagement with and understanding of complex genetic and screening concepts. CONCLUSIONS Online resources such as the one developed during this work have the potential to help people form considered views and facilitate access to the perspectives of parents and the wider public on genetic testing. These may be otherwise difficult to obtain but are of importance to health care professionals and policymakers. CLINICALTRIAL ClinicalTrials.gov NCT06299566; https://clinicaltrials.gov/study/NCT06299566

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.

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.