PMID- 36935418 OWN - NLM STAT- MEDLINE DCOM- 20230613 LR - 20231218 IS - 1476-5438 (Electronic) IS - 1018-4813 (Print) IS - 1018-4813 (Linking) VI - 31 IP - 6 DP - 2023 Jun TI - Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready? PG - 703-711 LID - 10.1038/s41431-023-01311-1 [doi] AB - Since the introduction of genome sequencing in medicine, the factors involved in deciding how to integrate this technology into population screening programs such as Newborn Screening (NBS) have been widely debated. In Australia, participation in NBS is not mandatory, but over 99.9% of parents elect to uptake this screening. Gauging stakeholder attitudes towards potential changes to NBS is vital in maintaining this high participation rate. The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs. Participants were surveyed online in 2016 using surveys adapted from previous studies. The majority of parents (90%) self-reported some knowledge of NBS, with 77% expressing an interest in NBS using the new technology. This was significantly lower than those who would utilise NBS using current technologies (99%). Although, many health professionals (62%) felt that new technologies should currently not be used as an adjunct to NBS, 79% foresaw the use of genomic sequencing in NBS by 2026. However, for genomic sequencing to be considered, practical and technical challenges as well as parent information needs were identified including the need for accurate interpretation of data; pre-and post-test counselling; and appropriate parental consent and opt-out process. Therefore, although some support for implementing genomic sequencing into Australian NBS does exist, there is a need for further investigation into the ethical, social, legal and practical implications of introducing this new technology as a replacement to current NBS methods. CI - (c) 2023. The Author(s). FAU - White, Stephanie AU - White S AUID- ORCID: 0000-0002-5550-6397 AD - Faculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia. AD - Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia. FAU - Mossfield, Tamara AU - Mossfield T AD - Faculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia. AD - Genea, Sydney CBD, Sydney, NSW, Australia. FAU - Fleming, Jane AU - Fleming J AD - Faculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia. jane.fleming@sydney.edu.au. FAU - Barlow-Stewart, Kristine AU - Barlow-Stewart K AUID- ORCID: 0000-0003-1831-9944 AD - Faculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia. FAU - Ghedia, Sondhya AU - Ghedia S AD - Department of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia. FAU - Dickson, Rebecca AU - Dickson R AD - Genea, Sydney CBD, Sydney, NSW, Australia. AD - Royal Hospital for Women, Sydney, NSW, Australia. FAU - Richards, Fiona AU - Richards F AD - Department of Clinical Genetics, Children's Hospital, Westmead, Sydney, NSW, Australia. FAU - Bombard, Yvonne AU - Bombard Y AUID- ORCID: 0000-0002-9516-4539 AD - Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada. FAU - Wiley, Veronica AU - Wiley V AD - NSW Newborn Screening Programme, The Children's Hospital at Westmead, Sydney, NSW, Australia. LA - eng PT - Journal Article DEP - 20230320 PL - England TA - Eur J Hum Genet JT - European journal of human genetics : EJHG JID - 9302235 SB - IM MH - Humans MH - Infant, Newborn MH - Australia MH - Genomics MH - *Neonatal Screening/methods MH - Parents MH - Dried Blood Spot Testing MH - *Genetic Testing PMC - PMC10250371 COIS- The authors declare no competing interests. EDAT- 2023/03/21 06:00 MHDA- 2023/06/12 06:43 PMCR- 2023/03/20 CRDT- 2023/03/20 00:12 PHST- 2022/09/14 00:00 [received] PHST- 2023/01/31 00:00 [accepted] PHST- 2022/12/12 00:00 [revised] PHST- 2023/06/12 06:43 [medline] PHST- 2023/03/21 06:00 [pubmed] PHST- 2023/03/20 00:12 [entrez] PHST- 2023/03/20 00:00 [pmc-release] AID - 10.1038/s41431-023-01311-1 [pii] AID - 1311 [pii] AID - 10.1038/s41431-023-01311-1 [doi] PST - ppublish SO - Eur J Hum Genet. 2023 Jun;31(6):703-711. doi: 10.1038/s41431-023-01311-1. Epub 2023 Mar 20.