Stakeholder views of the proposed introduction of next generation sequencing into the cystic fibrosis screening protocol in England

The project aimed to gather, analyze and compare views of stakeholders on 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. Par-ticipants were recruited from 12 CF centers in the UK. Twenty-eight adults with experience of CF (parents of children with CF [n=21], parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF Screen Positive – Inconclusive Diag-nosis (CFSPID), an uncertain outcome [n=3] and adults with CF [n=4]), and nine health profes-sionals 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 explana-tions about potential outcomes including uncertainty (CFSPID) at the time of screening was em-phasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening

Parents’ and children's views of wider genomic testing when used as part of newborn screening to identify cystic fibrosis

Newborn bloodspot screening (NBS) is currently undergoing a ‘revolution’ (Spiekerkoetter et al., 2023). The development of new therapies (Vockley et al., 2023) and the piloting of whole genome sequencing in healthy newborns (e.g. Newborn Genomes Programme, UK, BabySeq USA) are challenging NBS practice and policy, as well as the Wilson & Jungner criteria (Wilson & Jungner, 1968) that underpin them (Andermann et al., 2008; Rahimzadeh et al., 2022; Vears et al., 2023). The capacity to screen for large numbers of variants simultaneously and generate data with potential relevance across the life course, and for family members beyond the screened infant, has prompted widespread discussion of the benefits (e.g., early identification and treatment of screened conditions) and harms (e.g., identification of variants of unknown clinical significance) that such high throughput screening programmes bring (Bick et al., 2022; Remec et al., 2021; Spiekerkoetter et al., 2023; Tluczek et al., 2022)

Climate Variability Drives Plankton Community Composition Changes: the 2010-2011 El Nino to La Nina Transition Around Australia

The strong La Nina of 2010-2011 provided an opportunity to investigate the ecological impacts of El Nino-Southern Oscillation on coastal plankton communities using the nine national reference stations around Australia. Based on remote sensing and across the entire Australian region 2011 (La Nina) was only modestly different from 2010 (El Nino) with the average temperature declining 0.2 percent surface chlorophyll a up 3 percent and modelled primary production down 14 percent. Other changes included a poleward shift in Prochlorococcus and Synechococcus. Along the east coast, there was a reduction in salinity, increase in nutrients, Chlorophytes and Prasinophytes (taxa with chlorophyll b, neoxanthin and prasinoxanthin). The southwest region had a rise in the proportion of 19-hexoyloxyfucoxanthin; possibly coccolithophorids in eddies of the Leeuwin Current and along the sub-tropical front. Pennate diatoms increased, Ceratium spp. decreased and Scrippsiella spp. increased in 2011. Zooplankton biomass declined significantly in 2011. There was a reduction in the abundance of Calocalanus pavo and Temora turbinata and increases in Clausocalanus farrani, Oncaea scottodicarloi and Macrosetella gracilis in 2011. The changes in the plankton community during the strong La Nina of 2011 suggest that this climatic oscillation exacerbates the tropicalization of Australia

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.</p

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

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

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

Australia's long-term plankton observations: the integrated marine observing system national reference station network

The Integrated Marine Observing System National Reference Station network provides unprecedented open access to species-level phytoplankton and zooplankton data for researchers, managers and policy makers interested in resource condition, and detecting and understanding the magnitude and time-scales of change in our marine environment. We describe how to access spatial and temporal plankton data collected from the seven reference stations located around the Australian coastline, and a summary of the associated physical and chemical parameters measured that help in the interpretation of plankton data. Details on the rationale for site locations, sampling methodologies and laboratory analysis protocols are provided to assist with use of the data, and design of complimentary investigations. Information on taxonomic entities reported in the plankton database, and changes in taxonomic nomenclature and other issues that may affect data interpretation, are included. Data from more than 1250 plankton samples are freely available via the Australian Ocean Data Network portal and we encourage uptake and use of this continental-scale dataset, giving summaries of data currently available and some practical applications. The full methods manual that includes sampling and analysis protocols for the Integrated Marine Observing System Biogeochemical Operations can be found on-line