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. 2024 Apr 3;14(4):e081426.
doi: 10.1136/bmjopen-2023-081426.

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

Sebastian Lunke  1   2 , Sophie E Bouffler  3   4 , Lilian Downie  1   2 , Jade Caruana  4 , David J Amor  2   4 , Alison Archibald  1   2 , Yvonne Bombard  5   6 , John Christodoulou  2   4 , Marc Clausen  5 , Paul De Fazio  1 , Ronda F Greaves  1   2 , Sebastian Hollizeck  1 , Anaita Kanga-Parabia  2   4 , Nitzan Lang  1 , Fiona Lynch  2 , Riccarda Peters  2 , Simon Sadedin  1 , Erin Tutty  2   4 , Stefanie Eggers  1 , Crystle Lee  1 , Meaghan Wall  1   2 , Alison Yeung  1   2 , Clara Gaff  2   7 , Christopher Gyngell  2   4 , Danya F Vears  2   4 , Stephanie Best  3   8 , Ilias Goranitis  2   3 , Zornitza Stark  9   2   3
Affiliations

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

Sebastian Lunke et al. BMJ Open. .

Abstract

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.

Keywords: GENETICS; Health policy; PAEDIATRICS.

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Conflict of interest statement

Competing interests: YB and MC are cofounders of the Genetics Adviser. The other authors declare no relevant disclosures.

Figures

Figure 1
Figure 1
The three phases of the BabyScreen+study including data collection tools and research focus areas. *Refer to table 1 for survey and interview measures.
Figure 2
Figure 2
Participation process for birth parents. Solid lines represent the expected end-to-end study pathway (offer to result and final surveys), dashed lines represent anticipated study exit pathways. *Participants not able to complete enrolment in English will be supported by a genetic counsellor and an interpreter. HCP, healthcare professional; gNBS, genomic NBS; NBS, newborn bloodspot screening; REDCap, Research Electronic Data Capture; T1–T4, survey time points/identifiers.
See this image and copyright information in PMC

References

    1. Therrell BL, Padilla CD, Loeber JG, et al. . Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171–87. 10.1053/j.semperi.2015.03.002 - DOI - PubMed
    1. Wilson JMG, Jungner G, World Health O. Principles and Practice of Screening for Disease. Geneva: World Health Organization, 1968.
    1. Stark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet 2023;24:755–66. 10.1038/s41576-023-00621-w - DOI - PubMed
    1. Koracin V, Mlinaric M, Baric I, et al. . Current status of newborn screening in southeastern Europe. Front Pediatr 2021;9:648939. 10.3389/fped.2021.648939 - DOI - PMC - PubMed
    1. Sikonja J, Groselj U, Scarpa M, et al. . Towards achieving equity and innovation in newborn screening across Europe. Int J Neonatal Screen 2022;8:31. 10.3390/ijns8020031 - DOI - PMC - PubMed

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