Evidence map›Paper›PMID 35509103›Full record

ArticleHereditary cancer in clinical practice2022

Lynch syndrome testing of colorectal cancer patients in a high-income country with universal healthcare: a retrospective study of current practice and gaps in seven australian hospitals.

Julia Steinberg, Priscilla Chan, Emily Hogden, Gabriella Tiernan, April Morrow, Yoon-Jung Kang, Emily He, Rebecca Venchiarutti, Leanna Titterton, Lucien Sankey and 24 more

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

Article in Hereditary cancer in clinical practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 21% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. 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

34 authors at 15 institutions in 1 country.

Julia SteinbergThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia. julia.steinberg@nswcc.org.au.
Priscilla ChanThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Emily HogdenThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Gabriella TiernanThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
April MorrowThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Yoon-Jung KangThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Emily HeThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Rebecca VenchiaruttiSurgical Outcomes Research Centre (SOuRCe), Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
Leanna TittertonNSW Health, Western Sydney Local Health District, Westmead, NSW, Australia.
Lucien SankeyMonash Health, Melbourne, Victoria, Australia.
Amy PearnCancer Council NSW, Sydney, NSW, Australia.
Cassandra NicholsGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
Skye McKayThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Anne HaywardThe Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Natasha EgoroffSchool of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia.
Alexander EngelThe University of Sydney, Northern Clinical School Royal North Shore Hospital, Sydney, NSW, Australia.
Peter GibbsPersonalised Oncology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.
Annabel GoodwinCancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
Marion HarrisMonash Health, Melbourne, Victoria, Australia.
James G KenchDepartment of Tissue Pathology & Diagnostic Oncology, NSW Health Pathology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
Nicholas PachterGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
Bonny ParkinsonCentre for the Health Economy, Macquarie University, Sydney, NSW, Australia.
Peter PockneySchool of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia.
Abiramy RagunathanWestmead Familial Cancer Services, The Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia.
Courtney SmythMonash Health, Melbourne, Victoria, Australia.
Michael SolomonFaculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Daniel SteffensSurgical Outcomes Research Centre (SOuRCe), Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
James Wei Tatt TohDepartment of Colorectal Surgery, The University of Sydney, Westmead Hospital, Westmead, NSW, Australia.
Marina WallaceFiona Stanley Hospital, South Metropolitan Health Service, Murdoch, Western Australia, Australia.
Karen CanfellThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
Anthony GillSydney Medical School, University of Sydney, Sydney, NSW, Australia.
Finlay MacraeColorectal Medicine and Genetics, Department of Medicine, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Kathy TuckerHereditary Cancer Clinic, Prince of Wales Hospital, Sydney, NSW, Australia.
Natalie TaylorThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, 153 Dowling St, NSW, 2011, Woolloomooloo, Australia.
The University of Sydney · AURoyal Prince Alfred Hospital · AUMonash Health · AUCancer Council NSW · AUThe Royal Melbourne Hospital · AUUniversity of Newcastle Australia · AUCancer Council Australia · AUKing Edward Memorial Hospital · AUMacquarie University · AUSouth Metropolitan Health Service · AUSydney Local Health District · AUThe University of Western Australia · AUUNSW Sydney · AUWalter and Eliza Hall Institute of Medical Research · AUWestmead Hospital · AU

Funding

Cancer Australia 1123924Cancer Institute NSW 2017/CDF005
6 · The paper itself

Abstract

backgroundTo inform effective genomic medicine strategies, it is important to examine current approaches and gaps in well-established applications. Lynch syndrome (LS) causes 3-5% of colorectal cancers (CRCs). While guidelines commonly recommend LS tumour testing of all CRC patients, implementation in health systems is known to be highly variable. To provide insights on the heterogeneity in practice and current bottlenecks in a high-income country with universal healthcare, we characterise the approaches and gaps in LS testing and referral in seven Australian hospitals across three states.

methodsWe obtained surgery, pathology, and genetics services data for 1,624 patients who underwent CRC resections from 01/01/2017 to 31/12/2018 in the included hospitals.

resultsTumour testing approaches differed between hospitals, with 0-19% of patients missing mismatch repair deficiency test results (total 211/1,624 patients). Tumour tests to exclude somatic MLH1 loss were incomplete at five hospitals (42/187 patients). Of 74 patients with tumour tests completed appropriately and indicating high risk of LS, 36 (49%) were missing a record of referral to genetics services for diagnostic testing, with higher missingness for older patients (0% of patients aged ≤ 40 years, 76% of patients aged > 70 years). Of 38 patients with high-risk tumour test results and genetics services referral, diagnostic testing was carried out for 25 (89%) and identified a LS pathogenic/likely pathogenic variant for 11 patients (44% of 25; 0.7% of 1,624 patients).

conclusionsGiven the LS testing and referral gaps, further work is needed to identify strategies for successful integration of LS testing into clinical care, and provide a model for hereditary cancers and broader genomic medicine. Standardised reporting may help clinicians interpret tumour test results and initiate further actions.

Indexed as

BottleneckGapGenetics services referralHeterogeneity in practiceLynch syndromeMedical recordsMismatch repairTumour testing

Identifiers

PMID35509103
PMCPMC9066828
OpenAlexW4225416497

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.