Conectar
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.
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.
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.
by Kate Caruana, Chris Hayre, Chandra Makanjee
IntroductionPaediatric patients are a vulnerable population that require additional care by healthcare professionals. Quality managing these examinations ensures that effective and quality care is provided to individual patients, whilst encouraging consistency within the medical imaging department. This study explored radiographers’ perspectives on quality management strategies of general radiographic paediatric examinations using a paediatric imaging reflective checklist.
MethodsA quantitative descriptive research design with qualitative questions was used through a purposive sampling method from both public and private Australian diagnostic imaging qualified radiographers who had experience in paediatric imaging examinations. The paediatric imaging service reflective tool consisted of 65 items in total. Data analysis entailed Microsoft Excel version 16.16.6 and Jamovi version 2.3.21 for the closed-ended questions and for the open-ended responses a thematic analysis.
ResultsThe participation rate was 13.2% and the most significant findings were: lead shielding was still being used at their organisation, despite recent recommendations to suspend its use; access to paediatric patient related information resources is limited; there was no involvement of families and communities regarding policy development or quality improvement measures as advocated in literature; and there was a need for enhanced specialised paediatric education, training and protocols.
ConclusionUsing the paediatric patient-centred imaging reflective checklist, radiographers had an opportunity to identify quality improvement indicators as well as issues that could further enhance best practice principles. Further studies could inform on the validity of this reflective tool.
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