Evidence map›Paper›PMID 36935418›Full record

ArticleEuropean journal of human genetics : EJHG2023

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

Stephanie White, Tamara Mossfield, Jane Fleming, Kristine Barlow-Stewart, Sondhya Ghedia, Rebecca Dickson, Fiona Richards, Yvonne Bombard, Veronica Wiley

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
12.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 40 citations in OpenAlex.

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  19. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 2 countries.

Stephanie White *Faculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0002-5550-6397
Tamara Mossfield *Faculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia.
Jane FlemingFaculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia. jane.fleming@sydney.edu.au.
Kristine Barlow-StewartFaculty of Medicine and Health, Northern Clinical School, The University of Sydney, Sydney, NSW, Australia.ORCID 0000-0003-1831-9944
Sondhya GhediaDepartment of Clinical Genetics, Royal North Shore Hospital, Sydney, NSW, Australia.
Rebecca DicksonGenea, Sydney CBD, Sydney, NSW, Australia.
Fiona RichardsDepartment of Clinical Genetics, Children's Hospital, Westmead, Sydney, NSW, Australia.
Yvonne BombardGenomics 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.ORCID 0000-0002-9516-4539
Veronica WileyNSW Newborn Screening Programme, The Children's Hospital at Westmead, Sydney, NSW, Australia.
The University of Sydney · AUChildren's Hospital at Westmead · AURoyal North Shore Hospital · AUSt. Michael's Hospital · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Genetic TestingNeonatal ScreeningAustraliaDried Blood Spot TestingGenomicsHumansInfant, NewbornParents

Identifiers

PMID36935418
PMCPMC10250371
OpenAlexW4327892870

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.