A Review of Precision Oncology Knowledgebases for Determining the Clinical Actionability of Genetic Variants

被引:19
|
作者
Li, Xuanyi [1 ]
Warner, Jeremy L. [2 ,3 ]
机构
[1] Vanderbilt Univ, Sch Med, Nashville, TN 37212 USA
[2] Vanderbilt Univ, Dept Med, Nashville, TN 37235 USA
[3] Vanderbilt Univ, Dept Biomed Informat, 221 Kirkland Hall, Nashville, TN 37235 USA
关键词
precision oncology; knowledgebase; variant interpretation; actionability; targeted therapy; genotype-selective clinical trial; tumor genetic testing; OFF-LABEL USE; PRIVATE MUTATIONS; PHARMACOGENOMICS KNOWLEDGE; MEDICINE; GENOMICS; TRIAL; IDENTIFICATION; INFORMATION; PREVALENCE; LANDSCAPE;
D O I
10.3389/fcell.2020.00048
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The increased availability of tumor genetic testing and targeted cancer therapies contributes to the advancement of precision medicine in the field of oncology. Precision oncology knowledgebases provide a way of organizing clinically relevant genetic information in a way that is easily accessible for both oncologists and patients, facilitating the genetic-based clinical decision making. Many organizations and companies have built precision oncology knowledgebases, intended for multiple users. In general, these knowledgebases offer information on cancer-related genetic variants as well as their associated diagnostic, prognostic, and therapeutic implications, but they often differ in their information curations, designs, and user experiences. It is advisable that oncologists use multiple knowledgebases during their practice to have them complement each other. In the future, convergence toward common standards and formats is needed to ensure that the comprehensive knowledge across all sources can be unified to bring the oncology community closer to the achievement of the goal of precision oncology.
引用
收藏
页数:8
相关论文
共 50 条
  • [1] Concepts of Actionability in Precision Oncology
    Chin-Yee, Benjamin
    Plutynski, Anya
    PHILOSOPHY OF SCIENCE, 2024, 91 (05) : 1349 - 1360
  • [2] Quantifying the growth of clinical actionability in precision oncology using OncoKB
    Suehnholz, Sarah P.
    Kundra, Ritika
    Nandakumar, Subhiksha
    Nissan, Moriah H.
    Zhang, Hongxin
    Lu, Calvin
    Dhaneshwar, Amanda
    Fernandez, Nicole
    Carrero, Stephanie
    Arcila, Maria E.
    Ladanyi, Marc
    Berger, Michael F.
    Syed, Aijazuddin
    Brannon, Angela Rose
    Levine, Ross L.
    Dogan, Ahmet
    Drilon, Alexander E.
    Solit, David B.
    Schultz, Nikolaus
    Chakravarty, Debyani
    JOURNAL OF CLINICAL ONCOLOGY, 2023, 41 (16)
  • [3] Assessing actionability and incidental findings of germline variants in two precision oncology trials
    Ibrahim, Maria Baz
    Adnani, Yahia
    Clement, Gerome Jules
    Lacroix, Ludovic
    Loriot, Yohann
    Besse, Benjamin
    Massard, Christophe
    Rouleau, Etienne
    EUROPEAN JOURNAL OF CANCER, 2024, 210
  • [4] Standardization and coordination of variant interpretation knowledgebases improves clinical genome actionability
    Wagner, Alex H.
    Walsh, Brian
    Sonkin, Dmitriy
    Dienstmann, Rodrigo
    Li, Xuan S.
    Beckmann, Jacques
    Mayfield, Georgia
    Tamborero, David
    Lopez-Bigas, Nuria
    Goecks, Jeremy
    Margolin, Adam
    Griffith, Malachi
    Griffith, Obi
    CANCER RESEARCH, 2018, 78 (13)
  • [5] Global integration of knowledgebases for clinical interpretation of cancer variants
    Griffith, Obi L.
    Griffith, Malachi
    Tamborero, David
    Wagner, Alex H.
    Krysiak, Kilannin
    Del, Catherine
    Fitz, Vecchio
    Chakravarty, Debyani
    Cerami, Ethan
    Elemento, Olivier
    Schultz, Nikolaus
    Margolin, Adam
    Lopez-Bigas, Nuria
    CANCER RESEARCH, 2017, 77
  • [6] COSMIC Actionability: Supporting precision oncology through Identification of actionable mutations from clinical trials databases and publications
    Jupe, Steven C.
    Bindal, Nidhi
    Sondka, Zbyslaw
    Wang, Shicai
    Nair, Sumodh
    Ponting, Laura
    Sondheimer, Doron
    Hathaway, Charlie
    Forbes, Simon A.
    CANCER RESEARCH, 2022, 82 (12)
  • [7] Implementing the European Society for Medical Oncology Scale for Clinical Actionability of Molecular Targets in a Comprehensive Profiling Program: Impact on Precision Medicine Oncology
    Martin-Romano, Patricia
    Mezquita, Laura
    Hollebecque, Antoine
    Lacroix, Ludovic
    Rouleau, Etienne
    Gazzah, Anas
    Bahleda, Rastilav
    Planchard, David
    Varga, Andrea
    Baldini, Capucine
    Postel-Vinay, Sophie
    Friboulet, Luc
    Loriot, Yohann
    Verlingue, Loic
    Geraud, Arthur
    Camus, Maud Ngo
    Nicotra, Claudio
    Soria, Jean Charles
    Andre, Fabrice
    Besse, Benjamin
    Massard, Christophe
    Italiano, Antoine
    JCO PRECISION ONCOLOGY, 2022, 6
  • [8] Clinical actionability of genetic findings in cerebral palsy
    Lewis, S.
    Chopra, M.
    Cohen, J.
    Bain, J.
    Aravamuthan, B.
    Carmel, J.
    Fahey, M.
    Wintle, R.
    Zech, M.
    Segel, R.
    Haque, N.
    May, H.
    Fehlings, D.
    Srivastava, S.
    Kruer, M.
    ANNALS OF NEUROLOGY, 2023, 94 : S103 - S103
  • [9] Automatic Extraction of Genomic Variants for Locating Precision Oncology Clinical Trials
    Chen, Hui
    Xiaoyuan, Huyan
    Hu, Danqing
    Duan, Huilong
    Lu, Xudong
    HEALTH INFORMATION PROCESSING, CHIP 2022, 2023, 1772 : 109 - 123
  • [10] Clinical Application of Computational Methods in Precision Oncology A Review
    Panagiotou, Orestis A.
    Hogg, Lori Hoffman
    Hricak, Hedvig
    Khleif, Samir N.
    Levy, Mia A.
    Magnus, David
    Murphy, Martin J.
    Patel, Bakul
    Winn, Robert A.
    Nass, Sharyl J.
    Gatsonis, Constantine
    Cogle, Christopher R.
    JAMA ONCOLOGY, 2020, 6 (08) : 1282 - 1286