Evidence map›Paper›PMID 39443383›Full record

GuidelineVirchows Archiv : an international journal of pathology2024

Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology.

Yann Christinat, Baptiste Hamelin, Ilaria Alborelli, Paolo Angelino, Valérie Barbié, Bettina Bisig, Heather Dawson, Milo Frattini, Tobias Grob, Wolfram Jochum and 10 more

Abstract readPractice Guideline
In one paragraph

Guideline in Virchows Archiv : an international journal of pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

20 authors.

Yann ChristinatClinical Pathology Division, Geneva University Hospitals, Geneva, Switzerland. yann.christinat@hcuge.ch.ORCID http://orcid.org/0000-0002-4977-1362
Baptiste HamelinInstitute of Medical Genetics and Pathology, Universitätsspital Basel, Basel, Switzerland.
Ilaria AlborelliInstitute of Medical Genetics and Pathology, Universitätsspital Basel, Basel, Switzerland.
Paolo AngelinoTDS-Facility, AGORA Cancer Research Center, Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Valérie BarbiéClinical Bioinformatics, Swiss Institute of Bioinformatics, Geneva, Switzerland.
Bettina BisigInstitute of Pathology, Lausanne University Hospital and Lausanne University, Lausanne, Switzerland.
Heather DawsonClinical Genomics Lab, Institut für Gewebemedezin und Pathologie, Inselspital, Bern, Switzerland.
Milo FrattiniIstituto Cantonale di Patologia EOC, Locarno, Switzerland.
Tobias GrobClinical Genomics Lab, Institut für Gewebemedezin und Pathologie, Inselspital, Bern, Switzerland.
Wolfram JochumInstitut für Pathologie, Kantonsspital St-Gallen, St-Gallen, Switzerland.
Ronny NienholdInstitut für Pathologie und Molekularpathologie, Universitätsspital Zürich, Zurich, Switzerland.
Thomas McKeeClinical Pathology Division, Geneva University Hospitals, Geneva, Switzerland.
Matthias MatterInstitute of Medical Genetics and Pathology, Universitätsspital Basel, Basel, Switzerland.
Edoardo MissiagliaInstitute of Pathology, Lausanne University Hospital and Lausanne University, Lausanne, Switzerland.
Francesca MolinariIstituto Cantonale di Patologia EOC, Locarno, Switzerland.
Sacha RothschildOncology and Hematology, Cantonal Hospital Baden, Baden, Switzerland.
Anna Bettina Sobottka-BrilloutInstitut für Pathologie und Molekularpathologie, Universitätsspital Zürich, Zurich, Switzerland.
Erik VassellaClinical Genomics Lab, Institut für Gewebemedezin und Pathologie, Inselspital, Bern, Switzerland.
Martin ZocheInstitut für Pathologie und Molekularpathologie, Universitätsspital Zürich, Zurich, Switzerland.
Kirsten D MertzInstitute of Medical Genetics and Pathology, Universitätsspital Basel, Basel, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Somatic variant testing through next-generation sequencing (NGS) is well integrated into Swiss molecular pathology laboratories and has become a standard diagnostic method for numerous indications in cancer patient care. Currently, there is a wide variation in reporting practices within our country, and as patients move between different hospitals, it is increasingly necessary to standardize NGS reports to ease their reinterpretation. Additionally, as many different stakeholders-oncologists, hematologists, geneticists, pathologists, and patients-have access to the NGS report, it needs to contain comprehensive and detailed information in order to answer the questions of experts and avoid misinterpretation by non-experts. In 2017, the Swiss Institute of Bioinformatics conducted a survey to assess the differences in NGS reporting practices across ten pathology institutes in Switzerland. The survey examined 68 reporting items and identified 48 discrepancies. Based on these findings, the Swiss Society of Molecular Pathology initiated a Delphi method to reach a consensus on a set of recommendations for NGS reporting. Reports should include clinical information about the patient and the diagnosis, technical details about the sample and the test performed, and a list of all clinically relevant variants and variants of uncertain significance. In the absence of a consensus on an actionability scheme, the five-class pathogenicity scheme proposed by the ACMG/AMP guideline must be included in the reports. The Swiss Society of Molecular Pathology recognizes the importance of including clinical actionability in the report and calls on the European community of molecular pathologists and oncologists to reach a consensus on this issue.

Indexed as

High-Throughput Nucleotide SequencingNeoplasmsPathology, MolecularConsensusGenetic TestingGenetic VariationHumansSocieties, MedicalSwitzerlandCancerGuidelinesNGS reportingSwiss Society of Molecular Pathology

Identifiers

PMID39443383
PMCPMC11666653

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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.