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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Por: Lunke · S. · Bouffler · S. E. · Downie · L. · Caruana · J. · Amor · D. J. · Archibald · A. · Bombard · Y. · Christodoulou · J. · Clausen · M. · De Fazio · P. · Greaves · R. F. · Hollizeck · S. · Kanga-Parabia · A. · Lang · N. · Lynch · F. · Peters · R. · Sadedin · S. · Tutty · E. · Eggers
Introduction

Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme.

Methods and analysis

The BabyScreen+ study will pilot gNBS in three phases. In the preimplementation phase, study materials, including education resources, decision support and data collection tools, will be designed. Focus groups and key informant interviews will also be undertaken to inform delivery of the study and future gNBS programmes. During the implementation phase, we will prospectively recruit birth parents in Victoria, Australia, to screen 1000 newborns for over 600 severe, treatable, childhood-onset conditions. Clinically accredited whole genome sequencing will be performed following standard NBS using the same sample. High chance results will be returned by genetic healthcare professionals, with follow-on genetic and other confirmatory testing and referral to specialist services as required. The postimplementation phase will evaluate the feasibility of gNBS as the primary aim, and assess ethical, implementation, psychosocial and health economic factors to inform future service delivery.

Ethics and dissemination

This project received ethics approval from the Royal Children’s Hospital Melbourne Research Ethics Committee: HREC/91500/RCHM-2023, HREC/90929/RCHM-2022 and HREC/91392/RCHM-2022. Findings will be disseminated to policy-makers, and through peer-reviewed journals and conferences.

What factors in the workplace enable success in antimicrobial stewardship in paediatric intensive care? An exploration of antimicrobial stewardship excellence through thematic analysis of appreciative inquiry interviews with healthcare staff

Por: Roche · E. · Jones · A. · Plunkett · A.
Objectives

Antimicrobial resistance (AMR) is a major global health problem. Efforts to mitigate AMR prioritise antimicrobial stewardship (AMS) interventions. These interventions typically focus on deficiencies in practice and providing negative or normative feedback. This approach may miss opportunities to learn from success. We aimed to identify factors that enable success in AMS practices in the paediatric intensive care unit (PICU) by analysing the data obtained from interviews with staff members who had achieved success in AMS.

Design

Qualitative study design using thematic analysis of appreciative inquiry interviews with healthcare staff.

Setting

31-bedded PICU in the UK between January 2017 and January 2018.

Participants

71 staff who had achieved success in AMS in the PICU.

Results

Six themes were identified: (1) cultural factors including psychological safety, leadership and positive attitude are important enablers for delivering good clinical care; (2) ergonomic design of the physical environment and ready availability of tools and resources are key elements to support good practice and decision-making; (3) expertise and support from members of the multidisciplinary team contribute to good care delivery; (4) clarity of verbal and written communication is important for sharing mental models and aims of care within the clinical team; (5) a range of intrinsic factors influences the performance of individual HCPs, including organisation skill, fear of failure, response to positive reinforcement and empathetic considerations towards peers; (6) good clinical care is underpinned by a sound domain knowledge, which can be acquired through training, mentorship and experience.

Conclusion

The insights gained in this study originate from frontline staff who were interviewed about successful work-as-done. This strengths-based approach is an understudied area of healthcare, and therefore offers authentic intelligence which may be leveraged to effect tangible improvement changes. The methodology is not limited to AMS and could be applied to a wide range of healthcare settings.

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