| Title |
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
|
|---|---|
| Published in |
European Journal of Human Genetics, August 2018
|
| DOI | 10.1038/s41431-018-0224-1 |
| Pubmed ID | |
| Authors |
Pascal Pujol, Pierre Vande Perre, Laurence Faivre, Damien Sanlaville, Carole Corsini, Bernard Baertschi, Michèle Anahory, Dominique Vaur, Sylviane Olschwang, Nadem Soufir, Noëlle Bastide, Sarah Amar, Michèle Vintraud, Olivier Ingster, Stéphane Richard, Pierre Le Coz, Jean-Philippe Spano, Olivier Caron, Pascal Hammel, Elisabeth Luporsi, Alain Toledano, Xavier Rebillard, Anne Cambon-Thomsen, Olivier Putois, Jean-Marc Rey, Christian Hervé, Caroline Zorn, Karen Baudry, Virginie Galibert, Joseph Gligorov, David Azria, Brigitte Bressac-de Paillerets, Nelly Burnichon, Marc Spielmann, Daniel Zarca, Isabelle Coupier, Olivier Cussenot, Anne-Paule Gimenez-Roqueplo, Sophie Giraud, Anne-Sophie Lapointe, Patricia Niccoli, Isabelle Raingeard, Muriel Le Bidan, Thierry Frebourg, Arash Rafii, David Geneviève |
| 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. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 67% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 71 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 71 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 11 | 15% |
| Student > Ph. D. Student | 8 | 11% |
| Student > Bachelor | 6 | 8% |
| Researcher | 6 | 8% |
| Professor | 4 | 6% |
| Other | 13 | 18% |
| Unknown | 23 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 16 | 23% |
| Medicine and Dentistry | 13 | 18% |
| Agricultural and Biological Sciences | 5 | 7% |
| Psychology | 4 | 6% |
| Unspecified | 1 | 1% |
| Other | 7 | 10% |
| Unknown | 25 | 35% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 August 2018.
All research outputs
#15,542,971
of 23,099,576 outputs
Outputs from European Journal of Human Genetics
#2,856
of 3,460 outputs
Outputs of similar age
#210,051
of 331,157 outputs
Outputs of similar age from European Journal of Human Genetics
#39
of 53 outputs
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