Dataset Information

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

ABSTRACT: In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society of Predictive and Personalized Medicine (SFMPP) established a working group of 47 experts to elaborate guidelines for managing information given on the SFs for genes related to cancers. A subgroup of ethicists, lawyers, patients' representatives, and psychologists provided ethical reflection, information guidelines, and materials (written consent form and video). A subgroup with medical expertise, including oncologists and clinical and molecular geneticists, provided independent evaluation and classification of 60 genes. The main criteria were the "actionability" of the genes (available screening or prevention strategies), the risk evaluation (severity, penetrance, and age of disease onset), and the level of evidence from published data. Genes were divided into three classes: for class 1 genes (n?=?36), delivering the information on SFs was recommended; for class 2 genes (n?=?5), delivering the information remained questionable because of insufficient data from the literature and/or level of evidence; and for class 3 genes (n?=?19), delivering the information on SFs was not recommended. These guidelines for managing SFs for cancer-predisposing genes provide new insights for clinicians and laboratories to standardize clinical practices.

SUBMITTER: Pujol P

PROVIDER: S-EPMC6244405 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Pujol Pascal P Vande Perre Pierre P Faivre Laurence L Sanlaville Damien D Corsini Carole C Baertschi Bernard B Anahory Michèle M Vaur Dominique D Olschwang Sylviane S Soufir Nadem N Bastide Noëlle N Amar Sarah S Vintraud Michèle M Ingster Olivier O Richard Stéphane S Le Coz Pierre P Spano Jean-Philippe JP Caron Olivier O Hammel Pascal P Luporsi Elisabeth E Toledano Alain A Rebillard Xavier X Cambon-Thomsen Anne A Putois Olivier O Rey Jean-Marc JM Hervé Christian C Zorn Caroline C Baudry Karen K Galibert Virginie V Gligorov Joseph J Azria David D Bressac-de Paillerets Brigitte B Burnichon Nelly N Spielmann Marc M Zarca Daniel D Coupier Isabelle I Cussenot Olivier O Gimenez-Roqueplo Anne-Paule AP Giraud Sophie S Lapointe Anne-Sophie AS Niccoli Patricia P Raingeard Isabelle I Le Bidan Muriel M Frebourg Thierry T Rafii Arash A Geneviève David D

European journal of human genetics : EJHG 20180808 12

In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society ...[more]

PMID: 30089825

Similar Datasets

Project description:BackgroundCancer screening should be recommended only when the balance between benefits and harms is favorable. This review evaluated how U.S. cancer screening guidelines reported harms, within and across organ-specific processes to screen for cancer.ObjectiveTo describe current reporting practices and identify opportunities for improvement.DesignReview of guidelines.SettingUnited States.PatientsPatients eligible for screening for breast, cervical, colorectal, lung, or prostate cancer according to U.S. guidelines.MeasurementsInformation was abstracted on reporting of patient-level harms associated with screening, diagnostic follow-up, and treatment. The authors classified harms reporting as not mentioned, conceptual, qualitative, or quantitative and noted whether literature was cited when harms were described. Frequency of harms reporting was summarized by organ type.ResultsHarms reporting was inconsistent across organ types and at each step of the cancer screening process. Guidelines did not report all harms for any specific organ type or for any category of harm across organ types. The most complete harms reporting was for prostate cancer screening guidelines and the least complete for colorectal cancer screening guidelines. Conceptualization of harms and use of quantitative evidence also differed by organ type.LimitationsThis review considers only patient-level harms. The authors did not verify accuracy of harms information presented in the guidelines.ConclusionThe review identified opportunities for improving conceptualization, assessment, and reporting of screening process-related harms in guidelines. Future work should consider nuances associated with each organ-specific process to screen for cancer, including which harms are most salient and where evidence gaps exist, and explicitly explore how to optimally weigh available evidence in determining net screening benefit. Improved harms reporting could aid informed decision making, ultimately improving cancer screening delivery.Primary funding sourceNational Cancer Institute.

Dataset Information

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Publications

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets