Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology.
Détails
ID Serval
serval:BIB_9449E5D83468
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology.
Périodique
Virchows Archiv
ISSN
1432-2307 (Electronic)
ISSN-L
0945-6317
Statut éditorial
In Press
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: aheadofprint
Publication Status: aheadofprint
Résumé
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.
Mots-clé
Cancer, Guidelines, NGS reporting, Swiss Society of Molecular Pathology
Pubmed
Open Access
Oui
Création de la notice
25/10/2024 8:29
Dernière modification de la notice
25/10/2024 14:57