Evidence map›Paper›PMID 34427008›Full record

ArticleJournal of paediatrics and child health2022

Paediatric genomic testing: Navigating genomic reports for the general paediatrician.

Margit Shah, Arthavan Selvanathan, Gareth Baynam, Yemima Berman, Tiffany Boughtwood, Mary-Louise Freckmann, Gayathri Parasivam, Susan M White, Natalie Grainger, Edwin P Kirk and 2 more

Abstract read
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In one paragraph

Article in Journal of paediatrics and child health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Navigating an Uninformative Genomic Test Result: A Practical Guide.Journal of paediatrics and child health · 2025
    Review
  2. Article
  3. 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

12 authors.

Margit ShahCentre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0003-2510-8387
Arthavan SelvanathanGenetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Gareth BaynamGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
Yemima BermanDepartment of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Tiffany BoughtwoodAustralian Genomics, Melbourne, Victoria, Australia.
Mary-Louise FreckmannDepartment of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Gayathri ParasivamNSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Susan M WhiteVictorian Clinical Genetics Services, Melbourne, Victoria, Australia.
Natalie GraingerNSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Edwin P KirkCentre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Alan Sl MaDepartment of Clinical Genetics, Children's Hospital at Westmead, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-9293-4753
Rani SachdevCentre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. This has led to an increase in the uptake of genetic testing across paediatric disciplines. This can place an increased burden on paediatricians, who may now be responsible for interpreting and explaining test results to patients. However, genomic results can be complex, and sometimes inconclusive for the ordering paediatrician. Results may also cause uncertainty and anxiety for patients and their families. The paediatrician's genetic literacy and knowledge of genetic principles are therefore critical to inform discussions with families and guide ongoing patient care. Here, we present four hypothetical case vignettes where genomic testing is undertaken, and discuss possible results and their implications for paediatricians and families. We also provide a list of key terms for paediatricians.

Indexed as

GenomicsPediatriciansChildGenetic TestingHumans

Identifiers

PMID34427008
PMCPMC9292248

What OpenQuestion holds

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LicenceCC BY-NC
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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.