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

Archive ouverte

Pujol, Pascal | Vande Perre, Pierre | Faivre, Laurence | Sanlaville, Damien | Corsini, Carole | Baertschi, Bernard | Anahory, Michèle | Vaur, Dominique | Olschwang, Sylviane | Soufir, Nadem | Bastide, Noëlle | Amar, Sarah | Vintraud, Michèle | Ingster, Olivier | Richard, Stéphane | Le Coz, Pierre | Spano, Jean-Philippe | Caron, Olivier | Hammel, Pascal | Luporsi, Elisabeth | Toledano, Alain | Rebillard, Xavier | Cambon-Thomsen, Anne | Putois, Olivier | Rey, Jean-Marc | Hervé, Christian | Zorn, Caroline | Baudry, Karen | Galibert, Virginie | Gligorov, Joseph | Azria, David | Bressac-de Paillerets, Brigitte | Burnichon, Nelly | Spielmann, Marc | Zarca, Daniel | Coupier, Isabelle | Cussenot, Olivier | Gimenez-Roqueplo, Anne-Paule | Giraud, Sophie | Lapointe, Anne-Sophie | Niccoli, Patricia | Raingeard, Isabelle | Le Bidan, Muriel | Frébourg, Thierry | Rafii, Arash | Geneviève, David

Edité par CCSD ; Nature Publishing Group -

IF 3.636 (2017). International audience. 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.

Consulter en ligne

Suggestions

Du même auteur

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing

Archive ouverte | Pujol, Pascal | CCSD

International audience. BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer...

PFMG2025–integrating genomic medicine into the national healthcare system in France

Archive ouverte | Abadie, Caroline | CCSD

International audience. Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patien...

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Archive ouverte | Jiao, Yue | CCSD

International audience. Abstract Background Linking independent sources of data describing the same individuals enable innovative epidemiological and health studies but require a robust record linkage approach. We d...

Chargement des enrichissements...