Evidence map›Paper›PMID 39895028›Full record

ReviewJournal of paediatrics and child health2025

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Laura St Clair, Claire Wong, Christopher Elliot, Kristi J Jones, Margit Shah, Sarah Josephi-Taylor, Sarah Sandaradura, Lesley Adès, Janine Smith, Rani Sachdev and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of paediatrics and child health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Laura St ClairDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Claire WongDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Christopher ElliotDepartment of Paediatrics, St George Hospital, Southeast Sydney Local Health District, St George, NSW, Australia.
Kristi J JonesDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Margit ShahDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.ORCID https://orcid.org/0000-0003-2510-8387
Sarah Josephi-TaylorDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Sarah SandaraduraDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Lesley AdèsDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Janine SmithDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Rani SachdevCentre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Randwick, NSW, Australia.
Alan MaDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlthough genomic testing is increasingly standard of care for diagnosing children and adults with genetic conditions, over 50% of genomic testing will return an uninformative result.

aimTo provide a practical guide for paediatricians on how to approach an uninformative genomic test result, and the pathways which may be available to uncover a genetic diagnosis for their patients.

methodsInput from multiple genetics healthcare professionals including genetic counsellors, the literature, and a general paediatrician were used to construct this guide. We also provide a hypothetical case vignette, to further demonstrate the various options for a patient after receiving an uninformative result.

resultsThere are several reasons why an underlying genetic diagnosis may not be diagnosed with current testing, including incomplete phenotyping, a different underlying genetic mechanism requiring specialised testing, and limitations in knowledge at the time of the test.

conclusionUninformative results are very common, and it is important to understand these results in the context of the limitations of genomic testing. General paediatricians play an important role in supporting families through their diagnostic odyssey, as well as reassessing the phenotype, referring for sub-specialty inputs, and discussion with local genetics services for consideration of alternative testing options or enrolment into research pathways.

Indexed as

Genetic TestingGenomicsChildGenetic CounselingHumansgenetic counsellinggenetic testinggenomicspaediatrics

Identifiers

PMID39895028
PMCPMC11883051

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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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 Socratic graph.