Evidence map›Paper›PMID 37723522›Full record

ArticleGenome medicine2023

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Aimee L Davidson, Uwe Dressel, Sarah Norris, Daffodil M Canson, Dylan M Glubb, Cristina Fortuno, Georgina E Hollway, Michael T Parsons, Miranda E Vidgen, Oliver Holmes and 41 more

Open access · goldAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
4.7field-weighted citation impact, top 5% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Genetic predisposition to childhood cancer.World journal of clinical pediatrics · 2024
    Article
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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

51 authors at 15 institutions in 1 country.

Aimee L Davidson *QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0001-5034-5996
Uwe Dressel *Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
Sarah NorrisFaculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14), Sydney, NSW, 2006, Australia.
Daffodil M CansonQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Dylan M GlubbQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Cristina FortunoQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Georgina E HollwayQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Michael T ParsonsQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Miranda E VidgenQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Oliver HolmesQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Lambros T KoufariotisQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Vanessa LakisQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Conrad LeonardQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Scott WoodQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Qinying XuQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Amy E McCart ReedCentre for Clinical Research, University of Queensland, Brisbane, QLD, Australia.
Hilda A PickettChildren's Medical Research Institute, University of Sydney, Westmead, NSW, Australia.
Mohammad K Al-ShinnagFaculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
Rachel L AustinAustralian Genomics, Melbourne, VIC, Australia.
Jo BurkeTasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia.
Elisa J CopsParkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.
Cassandra B NicholsGenetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
Annabel GoodwinCancer Genetics Department, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Marion T HarrisMonash Health Familial Cancer, Monash Health, Melbourne, VIC, Australia.
Megan J HigginsGenetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Emilia L IpCancer Genetics, Liverpool Hospital, Sydney, NSW, Australia.
Catherine Kiraly-BorriDepartment of Health, Genetic Services of WA, Subiaco, WA, Australia.
Chiyan LauFaculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
Julia L MansourTasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia.
Michael W MillwardTasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia.
Melissa J MonnikAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Nicholas S PachterGenetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
Abiramy RagunathanFamilial Cancer Services, The Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia.
Rachel D SusmanGenetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Sharron L TownshendGenetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.
Alison H TrainerParkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.
Simon L TrothGenetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Katherine M TuckerPrince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Sydney, NSW, Australia.
Mathew J WallisTasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS, Australia.
Maie WalshParkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.
Rachel A WilliamsPrince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Sydney, NSW, Australia.
Ingrid M WinshipDepartment of Medicine, University of Melbourne, Melbourne, VIC, Australia.
Felicity NewellQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Emma TudiniQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
John V PearsonQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.
Nicola K PoplawskiAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Helen G Mar FanFaculty of Medicine, University of Queensland, Brisbane, QLD, Australia.
Paul A JamesParkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia.
Amanda B SpurdleQIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia. amanda.spurdle@qimrberghofer.edu.au.
Nicola Waddell *QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston QLD 4006, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-3950-2476
Robyn L Ward *Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. robyn.ward@sydney.edu.au.ORCID http://orcid.org/0000-0002-6877-8906
QIMR Berghofer Medical Research Institute · AUThe University of Queensland · AUThe Royal Melbourne Hospital · AURoyal Brisbane and Women's Hospital · AUThe University of Sydney · AURoyal Hobart Hospital · AUKing Edward Memorial Hospital · AURoyal Adelaide Hospital · AUUNSW Sydney · AUGovernment of Western Australia Department of Health · AULiverpool Hospital · AUMonash Health · AUThe University of Western Australia · AUUniversity of Tasmania · AUWestmead Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMany families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.

methodsThis multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.

resultsPathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.

conclusionsThese findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability.

Indexed as

Neoplastic Syndromes, HereditaryGenetic TestingGerm CellsHumansOncogenesProspective StudiesDiagnostic testingFamilial cancerGeneticsHealth economicsVariantsWhole-genome sequencing

Identifiers

PMID37723522
PMCPMC10507925
OpenAlexW4386822096

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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 OpenQuestion graph.