Australian public perspectives on genomic newborn screening: which conditions should be included?

Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to include in genomic newborn screening (gNBS). We recruited English-speaking members of the Australian public over 18 years of age, using social media, and invited them to participate in online focus groups. Seventy-five members of the public aged 23-72 participated in one of fifteen focus groups. Participants agreed that if prioritisation of conditions was necessary, childhood-onset conditions were more important to include than later-onset conditions. Despite the purpose of the focus groups being to elicit public preferences, participants wanted to defer to others, such as health professionals or those with a lived experience of each condition, to make decisions about which conditions to include. Many participants saw benefit in including conditions with no available treatment. Participants agreed that gNBS should be fully publicly funded. How many and which conditions are included in a gNBS program will be a complex decision requiring detailed assessment of benefits and costs alongside public and professional engagement. Our study provides support for implementing gNBS for treatable childhood-onset conditions.

Lynch F ，Best S ，Gaff C ，Downie L ，Archibald AD ，Gyngell C ，Goranitis I ，Peters R ，Savulescu J ，Lunke S ，Stark Z ，Vears DF ... -  《-》

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.

Lynch F ，Best S ，Gaff C ，Downie L ，Archibald AD ，Gyngell C ，Goranitis I ，Peters R ，Savulescu J ，Lunke S ，Stark Z ，Vears DF ... -  《-》

Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.

Seed L ，Scott A ，Pichini A ，Peter M ，Tadros S ，Sortica da Costa C ，Hill M ... -  《BMJ Open》

Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening.

Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical settings has reignited the discussion on whether GS can and should be integrated into NBS. Yet, the perspectives of healthcare professionals (HCPs) in Australia on the ethical and practical issues associated with the implementation of genomic newborn screening (GNBS) are underexplored. To address this, we conducted semi-structured interviews with 16 Australian HCPs with clinical or policy experience in NBS and/or GS to explore their perspectives on the ethical, social, and practical issues raised by integrating GS into NBS. Interviews were analyzed using inductive content analysis. When asked whether GS should be incorporated into NBS, HCPs did not feel it was currently appropriate but there was a strong consensus it may be implemented within the next decade. However, HCPs had differing perspectives on what conditions should be included and how to best handle the volume of data generated from GNBS. Our findings have important implications for determining at what point and how genomics can be integrated into NBS. The differing views expressed amongst HCPs suggest that further research is needed to explore the reasons behind this. Importantly, our participants highlighted a potential role for genetic counselors in the implementation of GNBS on a larger scale by developing educational resources to facilitate obtaining informed consent and return of results.

Cao M ，Notini L ，Ayres S ，Vears DF ... -  《-》

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》