Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0224-1. [Epub ahead of print]
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.
Pujol P1,2, Perre PV3,4, Faivre L5, Sanlaville D6,7,8, Corsini C3, Baertschi B9,10, Anahory M11, Vaur D12,13, Olschwang S14,15,16, Soufir N17,18, Bastide N19, Amar S11, Vintraud M20, Ingster O21, Richard S22, Le Coz P23, Spano JP24, Caron O25, Hammel P26, Luporsi E27, Toledano A20, Rebillard X28,29, Cambon-Thomsen A30,31, Putois O32, Rey JM33,34, Hervé C35, Zorn C36, Baudry K3, Galibert V3, Gligorov J37, Azria D38, Paillerets BB39, Burnichon N25,34,40,41, Spielmann M42, Zarca D42, Coupier I3,43, Cussenot O44,45, Gimenez-Roqueplo AP25,34,40,41, Giraud S34,46, Lapointe AS47, Niccoli P48, Raingeard I49, Le Bidan M50, Frebourg T51, Rafii A52,53, Geneviève D54,55.
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.