Personalized medicine

Definition

Personalized medicine is a therapeutic approach involving the use of an individual’s genetic and epigenetic information to tailor drug therapy or preventive care.

Latest Research and Reviews

  • Reviews |

    Radiomics is the high-throughput mining of quantitative image features from standard-of-care medical imaging to enable data to be extracted and applied within clinical-decision support systems. The process of radiomics is described and its pitfalls, challenges, opportunities, and capacity to improve clinical decision making. The radiomics field requires standardized evaluation of scientific findings and their clinical relevance. This review provides guidance for investigations to meet this urgent need in the field of radiomics.

    • Philippe Lambin
    • , Ralph T.H. Leijenaar
    • , Timo M. Deist
    • , Jurgen Peerlings
    • , Evelyn E.C. de Jong
    • , Janita van Timmeren
    • , Sebastian Sanduleanu
    • , Ruben T.H.M. Larue
    • , Aniek J.G. Even
    • , Arthur Jochems
    • , Yvonka van Wijk
    • , Henry Woodruff
    • , Johan van Soest
    • , Tim Lustberg
    • , Erik Roelofs
    • , Wouter van Elmpt
    • , Andre Dekker
    • , Felix M. Mottaghy
    • , Joachim E. Wildberger
    •  & Sean Walsh
  • Research | | open

    Oral squamous cell carcinoma is a prevalent malignancy in Taiwan. Here, the authors show that OSCC in Taiwanese show a frequent deletion polymorphism in the cytidine deaminases gene cluster APOBEC3 resulting in increased expression of A3A, which is shown to be of clinical prognostic relevance.

    • Ting-Wen Chen
    • , Chi-Ching Lee
    • , Hsuan Liu
    • , Chi-Sheng Wu
    • , Curtis R. Pickering
    • , Po-Jung Huang
    • , Jing Wang
    • , Ian Yi-Feng Chang
    • , Yuan-Ming Yeh
    • , Chih-De Chen
    • , Hsin-Pai Li
    • , Ji-Dung Luo
    • , Bertrand Chin-Ming Tan
    • , Timothy En Haw Chan
    • , Chuen Hsueh
    • , Lichieh Julie Chu
    • , Yi-Ting Chen
    • , Bing Zhang
    • , Chia-Yu Yang
    • , Chih-Ching Wu
    • , Chia-Wei Hsu
    • , Lai-Chu See
    • , Petrus Tang
    • , Jau-Song Yu
    • , Wei-Chao Liao
    • , Wei-Fan Chiang
    • , Henry Rodriguez
    • , Jeffrey N. Myers
    • , Kai-Ping Chang
    •  & Yu-Sun Chang
  • Research |

    Paz Polak, Jaegil Kim, Lior Z. Braunstein and colleagues have identified patterns of genome-wide mutation in certain breast cancers that can be used to identify those with DNA-repair deficiencies that make the tumor more likely to respond to therapies based on PARP inhibitors or platinum. In contrast, oncogenic mutations in several other DNA-repair genes do not generate these patterns.

    • Paz Polak
    • , Jaegil Kim
    • , Lior Z Braunstein
    • , Rosa Karlic
    • , Nicholas J Haradhavala
    • , Grace Tiao
    • , Daniel Rosebrock
    • , Dimitri Livitz
    • , Kirsten Kübler
    • , Kent W Mouw
    • , Atanas Kamburov
    • , Yosef E Maruvka
    • , Ignaty Leshchiner
    • , Eric S Lander
    • , Todd R Golub
    • , Aviad Zick
    • , Alexandre Orthwein
    • , Michael S Lawrence
    • , Rajbir N Batra
    • , Carlos Caldas
    • , Daniel A Haber
    • , Peter W Laird
    • , Hui Shen
    • , Leif W Ellisen
    • , Alan D D'Andrea
    • , Stephen J Chanock
    • , William D Foulkes
    •  & Gad Getz
    Nature Genetics 49, 1476–1486
  • Reviews |

    For clinical cases of Mendelian disease that lack a genetic diagnosis, genome and exome sequencing are increasingly used for seeking the genetic cause. This Review discusses the strategies and computational tools for prioritizing the many genetic variants identified in each genome into those that are most likely to be causal for disease. The authors discuss how diverse types of biochemical, evolutionary, pedigree and clinical-phenotype information are used, and they highlight common pitfalls to be aware of for responsible variant prioritization.

    • Karen Eilbeck
    • , Aaron Quinlan
    •  & Mark Yandell

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