Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

White, S; Mossfield, T; Fleming, J; Barlow-Stewart, K; Ghedia, S; Dickson, R; Richards, F; Bombard, Y; Wiley, V

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

White, S

Mossfield, T Fleming, J Barlow-Stewart, K Ghedia, S Dickson, R Richards, F Bombard, Y Wiley, V

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Publisher:: SPRINGERNATURE
Publication Type:: Journal Article
Citation:: Eur J Hum Genet, 2023, 31, (6), pp. 703-711
Issue Date:: 2023-06

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Field	Value	Language
dc.contributor.author	White, S https://orcid.org/0000-0002-5550-6397
dc.contributor.author	Mossfield, T
dc.contributor.author	Fleming, J
dc.contributor.author	Barlow-Stewart, K
dc.contributor.author	Ghedia, S
dc.contributor.author	Dickson, R
dc.contributor.author	Richards, F
dc.contributor.author	Bombard, Y
dc.contributor.author	Wiley, V
dc.date.accessioned	2023-11-01T01:32:03Z
dc.date.available	2023-01-31
dc.date.available	2023-11-01T01:32:03Z
dc.date.issued	2023-06
dc.identifier.citation	Eur J Hum Genet, 2023, 31, (6), pp. 703-711
dc.identifier.issn	1018-4813
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10453/172943
dc.description.abstract	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.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	SPRINGERNATURE
dc.relation.ispartof	Eur J Hum Genet
dc.relation.isbasedon	10.1038/s41431-023-01311-1
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	0604 Genetics, 1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.subject.classification	3105 Genetics
dc.subject.classification	3202 Clinical sciences
dc.subject.mesh	Humans
dc.subject.mesh	Infant, Newborn
dc.subject.mesh	Australia
dc.subject.mesh	Genomics
dc.subject.mesh	Neonatal Screening
dc.subject.mesh	Parents
dc.subject.mesh	Dried Blood Spot Testing
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.subject.mesh	Neonatal Screening
dc.subject.mesh	Parents
dc.subject.mesh	Genomics
dc.subject.mesh	Infant, Newborn
dc.subject.mesh	Australia
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Dried Blood Spot Testing
dc.subject.mesh	Humans
dc.subject.mesh	Infant, Newborn
dc.subject.mesh	Australia
dc.subject.mesh	Genomics
dc.subject.mesh	Neonatal Screening
dc.subject.mesh	Parents
dc.subject.mesh	Dried Blood Spot Testing
dc.subject.mesh	Genetic Testing
dc.title	Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
dc.type	Journal Article
utslib.citation.volume	31
utslib.location.activity	England
utslib.for	0604 Genetics
utslib.for	1103 Clinical Sciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
utslib.copyright.status	open_access	*
dc.date.updated	2023-11-01T01:32:02Z
pubs.issue	6
pubs.publication-status	Published
pubs.volume	31
utslib.citation.issue	6

Abstract:

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.

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http://hdl.handle.net/10453/172943