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

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.

Lunke S ，Bouffler SE ，Downie L ，Caruana J ，Amor DJ ，Archibald A ，Bombard Y ，Christodoulou J ，Clausen M ，De Fazio P ，Greaves RF ，Hollizeck S ，Kanga-Parabia A ，Lang N ，Lynch F ，Peters R ，Sadedin S ，Tutty E ，Eggers S ，Lee C ，Wall M ，Yeung A ，Gaff C ，Gyngell C ，Vears DF ，Best S ，Goranitis I ，Stark Z ... -  《BMJ Open》

Unlocking data: Decision-maker perspectives on cross-sectoral data sharing and linkage as part of a whole-systems approach to public health policy and practice.

Tweed E ，Cimova K ，Craig P ，Allik M ，Brown D ，Campbell M ，Henderson D ，Mayor C ，Meier P ，Watson N ... -  《-》

Defining the optimum strategy for identifying adults and children with coeliac disease: systematic review and economic modelling.

Elwenspoek MM ，Thom H ，Sheppard AL ，Keeney E ，O'Donnell R ，Jackson J ，Roadevin C ，Dawson S ，Lane D ，Stubbs J ，Everitt H ，Watson JC ，Hay AD ，Gillett P ，Robins G ，Jones HE ，Mallett S ，Whiting PF ... -  《-》

Cervical ripening at home or in hospital during induction of labour: the CHOICE prospective cohort study, process evaluation and economic analysis.

Black M ，Yuill C ，Harkness M ，Ahmed S ，Williams L ，Boyd KA ，Reid M ，Bhide A ，Heera N ，Huddleston J ，Modi N ，Norrie J ，Pasupathy D ，Sanders J ，Smith GCS ，Townsend R ，Cheyne H ，McCourt C ，Stock S ... -  《-》

Emotional literacy programme in special schools for children with a learning disability in England: the ZF-SEND feasibility RCT.

Stenfert Kroese B ，Unwin G ，Hastings R ，Jahoda A ，McNamara R ，Gillespie D ，Segrott J ，Ingarfield K ，Gianatsi M ，Randell E ，Mather Z ，Barrett B ，Ganguli P ，Rose J ，Sahle M ，Warren E ，Da Cruz N ... -  《-》