Evidence map›Paper›PMID 33566436›Full record

ArticleJournal of paediatrics and child health2021

Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Rani Sachdev, Mike Field, Gareth S Baynam, John Beilby, Maria Berarducci, Yemima Berman, Tiffany Boughtwood, Marie B Cusack, Vanessa Fitzgerald, Jeffery Fletcher and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of paediatrics and child health, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Navigating an Uninformative Genomic Test Result: A Practical Guide.Journal of paediatrics and child health · 2025
    Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
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

22 authors.

Rani SachdevCentre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Mike FieldCancer Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Gareth S BaynamDepartment of Health, Genetic Services of Western Australia, Perth, Western Australia, Australia.
John BeilbyDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
Maria BerarducciHealth Education and Training Institute (HETI), NSW Health Service, Sydney, New South Wales, Australia.
Yemima BermanDepartment of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Tiffany BoughtwoodAustralian Genomics, Parkville, Victoria, Australia.
Marie B CusackNSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Vanessa FitzgeraldSpeciality Services and Technology Evaluation Unit, Strategic Reform and Planning Branch, NSW Ministry of Health, Sydney, New South Wales, Australia.
Jeffery FletcherDepartment of Paediatrics, The Tweed Hospital, Tweed Heads, New South Wales, Australia.
Mary-Louise FreckmannDepartment of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Natalie GraingerNSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Edwin KirkCentre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Ben LundiePathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Sebastian LunkeVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Lesley McGregorSouth Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia.
David MowatCentre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Gayathri ParasivamNSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Vanessa TyrellChildren's Cancer Institute. Randwick, Sydney, New South Wales, Australia.
Mathew WallisTasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, Hobart, Tasmania, Australia.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Alan S L MaSpecialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-9293-4753

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being 'mainstreamed' into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.

Indexed as

Intellectual DisabilityPediatricsAgedAustraliaChildDevelopmental DisabilitiesGenetic TestingGenomicsHumansNational Health Programs

Identifiers

PMID33566436
PMCPMC8049061

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.