Evidence map›Paper›PMID 38092944›Full record

ReviewNature protocols2024

Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice.

Kris G Samsom, Linda J W Bosch, Luuk J Schipper, Daoin Schout, Paul Roepman, Mirjam C Boelens, Ferry Lalezari, Elisabeth G Klompenhouwer, Adrianus J de Langen, Tineke E Buffart and 19 more

Open access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature protocols, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
4.3field-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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. 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

29 authors at 4 institutions in 1 country.

Kris G Samsom *Department of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Linda J W Bosch *Department of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Luuk J SchipperDepartment of Molecular Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Daoin SchoutDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Paul RoepmanHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Mirjam C BoelensDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Ferry LalezariDepartment of Radiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Elisabeth G KlompenhouwerDepartment of Radiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Adrianus J de LangenDepartment of Thoracic Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Tineke E BuffartDepartment of Medical Oncology, Amsterdam UMC, Amsterdam, the Netherlands.
Berit M H van LinderDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Kelly van DeventerDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Kay van den BurgDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Unga UnmehopaDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Efraim H RosenbergDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.ORCID 0000-0002-3859-6941
Roelof KosterDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.ORCID 0000-0003-1424-8579
Frans B L HogervorstDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
José G van den BergDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Immy RiethorstHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Lieke SchoenmakerHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Daphne van BeekHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Ewart de BruijnHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Jacobus J M van der HoevenHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Hans van SnellenbergHartwig Medical Foundation, Science Park, Amsterdam, the Netherlands.
Lizet E van der KolkFamily Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands.
Edwin CuppenOncode Institute, Office Jaarbeurs Innovation Mile (JIM), Utrecht, the Netherlands.ORCID 0000-0002-0400-9542
Emile E VoestDepartment of Molecular Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands.ORCID 0000-0001-8249-9586
Gerrit A MeijerDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands. g.meijer@nki.nl.ORCID 0000-0003-0330-3130
Kim MonkhorstDepartment of Pathology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
The Netherlands Cancer Institute · NLHartwig Medical Foundation · NLAmsterdam University Medical Centers · NLUniversity Medical Center Utrecht · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two decades after the genomics revolution, oncology is rapidly transforming into a genome-driven discipline, yet routine cancer diagnostics is still mainly microscopy based, except for tumor type-specific predictive molecular tests. Pathology laboratories struggle to quickly validate and adopt biomarkers identified by genomics studies of new targeted therapies. Consequently, clinical implementation of newly approved biomarkers suffers substantial delays, leading to unequal patient access to these therapies. Whole-genome sequencing (WGS) can successfully address these challenges by providing a stable molecular diagnostic platform that allows detection of a multitude of genomic alterations in a single cost-efficient assay and facilitating rapid implementation, as well as by the development of new genomic biomarkers. Recently, the Whole-genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE) study demonstrated that WGS is a feasible and clinically valid technique in routine clinical practice with a turnaround time of 11 workdays. As a result, WGS was successfully implemented at the Netherlands Cancer Institute as part of routine diagnostics in January 2021. The success of implementing WGS has relied on adhering to a comprehensive protocol including recording patient information, sample collection, shipment and storage logistics, sequencing data interpretation and reporting, integration into clinical decision-making and data usage. This protocol describes the use of fresh-frozen samples that are necessary for WGS but can be challenging to implement in pathology laboratories accustomed to using formalin-fixed paraffin-embedded samples. In addition, the protocol outlines key considerations to guide uptake of WGS in routine clinical care in hospitals worldwide.

Indexed as

NeoplasmsBiomarkersGenomicsHumansWhole Genome SequencingWorkflowBiomarkers

Identifiers

PMID38092944
OpenAlexW4389671995

What OpenQuestion holds

Textmetadata
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.