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Personalized Medicine

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Abstract

Personalized medicine (PM) has grown in both clinical importance and in cultural recognition and popularity over the last two decades. In this chapter we will first address the different public perceptions of the term “personalized medicine,” with the ultimate goal of identifying the definition(s) of PM which best reflect how it is currently prosecuted within modern drug development. A brief historical context will then be provided, followed by a discussion of the general tenets of personalized medicine as employed within the pharmaceutical industry and in clinical practice. The chapter concludes with some tables and a small number of case studies that highlight the PM concept in both oncology and rare diseases and a consideration of what the future holds for the field.

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References and Further Reading

  • Alix-Panabières C, Pantel K (2013) Circulating tumor cells: liquid biopsy of cancer. Clin Chem 59(1):110–118

    Article  Google Scholar 

  • Andree KC, Mentink A, Zeune LL, Terstappen LWMM, Stoecklein NH, Neves RP, Driemel C, Lampignano R, Yang L, Neubauer H, Fehm T, Fischer JC, Rossi E, Manicone M, Basso U, Marson P, Zamarchi R, Loriot Y, Lapierre V, Faugeroux V, Oulhen M, Farace F, Fowler G, Sousa Fontes M, Ebbs B, Lambros M, Crespo M, Flohr P, de Bono JS (2018) Towards a real liquid biopsy in metastatic breast and prostate cancer: diagnostic LeukApheresis increases CTC yields in a European prospective multi-center study (CTCTrap). Int J Cancer. https://doi.org/10.1002/ijc.31752

  • Bacchelli C, Williams HJ (2016) Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Rev Mol Diagn 16(10):1073–1082

    Article  CAS  Google Scholar 

  • Brandão M, Pondé N, Piccart-Gebhart M (2018) Mammaprint™: a comprehensive review. Future Oncol. https://doi.org/10.2217/fon-2018-0221

  • Brooks JJ (1982) Immunohistochemistry of soft tissue tumors: progress and prospects. Hum Pathol 13(11):969–974

    Article  CAS  Google Scholar 

  • Cheong PL, Caramins M (2014) Approaches for classifying DNA variants found by Sanger sequencing in a medical genetics laboratory. Methods Mol Biol 1168:227–250

    Article  Google Scholar 

  • Cholon DM, Gentzsch M (2018) Recent progress in translational cystic fibrosis research using precision medicine strategies. J Cyst Fibros 17(2S):S52–S60

    Article  Google Scholar 

  • Dawson SJ (2018) Characterizing the cancer genome in blood. Cold Spring Harb Perspect Med. https://doi.org/10.1101/cshperspect.a026880. pii: a026880

  • Esposito A, Criscitiello C, Trapani D, Curigliano G (2017) The emerging role of “Liquid Biopsies,” Circulating tumor cells, and circulating cell-free tumor DNA in lung cancer diagnosis and identification of resistance mutations. Curr Oncol Rep 19(1):1

    Article  Google Scholar 

  • Gao QQ, McNally EM (2015) The dystrophin complex: structure, function, and implications for therapy. Compr Physiol 5(3):1223–1239

    Article  Google Scholar 

  • Giuliano AE, Connolly JL, Edge SB, Mittendorf EA, Rugo HS, Solin LJ, Weaver DL, Winchester DJ, Hortobagyi GN (2017) Breast cancer-major changes in the American Joint Committee on cancer eighth edition cancer staging manual. CA Cancer J Clin 67(4):290–303

    Article  Google Scholar 

  • Hamuro L, Chan P, Tirucherai G, AbuTarif M (2017) Developing a natural history progression model for Duchenne muscular dystrophy using the Six-Minute Walk Test. CPT Pharmacometrics Syst Pharmacol 6(9):596–603

    Article  CAS  Google Scholar 

  • Haslem DS, Chakravarty I, Fulde G, Gilbert H, Tudor BP, Lin K, Ford JM (2018) Nadauld LD precision oncology in advanced cancer patients improves overall survival with lower weekly healthcare costs. Oncotarget 9(15):12316–12322

    Article  Google Scholar 

  • Hoffman EP (1989) Human molecular genetics and the elucidation of the primary biochemical defect in Duchenne muscular dystrophy. Cell Motil Cytoskeleton 14(1):163–168

    Article  CAS  Google Scholar 

  • Jaafar H, Bashir MA, Taher A, Qawasmeh K, Jaloudi M (2014) Impact of oncotype DX testing on adjuvant treatment decisions in patients with early breast cancer: a single-center study in the United Arab Emirates. Asia Pac J Clin Oncol 10(4):354–360

    Article  Google Scholar 

  • Jones J, Libermann TA (2007) Genomics of renal cell cancer: the biology behind and the therapy ahead. Clin Cancer Res 13(2 Pt 2):685s–692s

    Article  CAS  Google Scholar 

  • Jørgensen JT (2013) Companion diagnostics in oncology – current status and future aspects. Oncology 85(1):59–68

    Article  Google Scholar 

  • Krebs MG, Sloane R, Priest L, Lancashire L, Hou JM, Greystoke A, Ward TH, Ferraldeschi R, Hughes A, Clack G, Ranson M, Dive C, Blackhall FH (2011) Evaluation and prognostic significance of circulating tumor cells in patients with non-small-cell lung cancer. J Clin Oncol 29(12):1556–1563

    Article  Google Scholar 

  • Le Tourneau C, Vidal L, Siu LL (2008) Progress and challenges in the identification of biomarkers for EGFR and VEGFR targeting anticancer agents. Drug Resist Updat 11(3):99–109

    Article  Google Scholar 

  • Lee T, Awano H, Yagi M, Matsumoto M, Watanabe N, Goda R, Koizumi M, Takeshima Y, Matsuo M (2017) 2′-O-methyl RNA/ethylene-bridged nucleic acid chimera antisense oligonucleotides to induce dystrophin exon 45 skipping. Genes (Basel) 8(2):67

    Google Scholar 

  • Lim KR, Maruyama R, Yokota T (2017) Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Des Devel Ther 11:533–545

    Article  CAS  Google Scholar 

  • Lin CH, Lin E, Lane HY (2017) Genetic biomarkers on age-related cognitive decline. Front Psych 8:247

    Article  Google Scholar 

  • Linsdell P (2017) Structural changes fundamental to gating of the cystic fibrosis transmembrane conductance regulator anion channel pore. Adv Exp Med Biol 925:13–32

    Article  CAS  Google Scholar 

  • Loewe RP (2013) Combinational usage of next generation sequencing and qPCR for the analysis of tumor samples. Methods 59(1):126–131

    Article  CAS  Google Scholar 

  • Luthra R, Medeiros LJ (2006) TaqMan reverse transcriptase-polymerase chain reaction coupled with capillary electrophoresis for quantification and identification of bcr-abl transcript type. Methods Mol Biol 335:135–145

    CAS  PubMed  Google Scholar 

  • Mamounas EP, Russell CA, Lau A, Turner MP, Albain KS (2018) Clinical relevance of the 21-gene recurrence score® assay in treatment decisions for patients with node-positive breast cancer in the genomic era. NPJ Breast Cancer 4:27

    Article  Google Scholar 

  • Marziniak M, Brichetto G, Feys P, Meyding-Lamadé U, Vernon K, Meuth SG (2018) The use of digital and remote communication technologies as a tool for multiple sclerosis management: narrative review. JMIR Rehabil Assist Technol 5(1):e5. https://doi.org/10.2196/rehab.7805

    Article  PubMed  PubMed Central  Google Scholar 

  • Merk D, Schubert-Zsilavecz M (2013) Repairing mutated proteins – development of small molecules targeting defects in the cystic fibrosis transmembrane conductance regulator. Expert Opin Drug Discovery 8(6):691–708

    Article  CAS  Google Scholar 

  • Moran O (2017) The gating of the CFTR channel. Cell Mol Life Sci 74(1):85–92

    Article  CAS  Google Scholar 

  • Phillips KA, Veenstra DL, Oren E, Lee JK, Sadee W (2001) Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. JAMA 286(18):2270–2279

    Article  CAS  Google Scholar 

  • Randeree L, Eslick GD (2018) Eteplirsen for paediatric patients with Duchenne muscular dystrophy: a pooled-analysis. J Clin Neurosci 49:1–6

    Article  CAS  Google Scholar 

  • Ross JS, Hatzis C, Symmans WF, Pusztai L, Hortobágyi GN (2008) Commercialized multigene predictors of clinical outcome for breast cancer. Oncologist 13(5):477–493

    Article  Google Scholar 

  • Rouzier R, Pronzato P, Chéreau E, Carlson J, Hunt B, Valentine WJ (2013) Multigene assays and molecular markers in breast cancer: systematic review of health economic analyses. Breast Cancer Res Treat 139(3):621–637

    Article  CAS  Google Scholar 

  • Shah KN, Hofmann MR, Schwarzkopf R, Pourmand D, Bhatia NN, Rafijah G, Bederman SS (2016) Patient-reported outcome measures: how do digital tablets stack up to paper forms? A randomized, controlled study. Am J Orthop (Belle Mead NJ) 45(7):E451–E457

    Google Scholar 

  • Siow ZR, De Boer RH, Lindeman GJ, Mann GB (2018) Spotlight on the utility of the Oncotype DX® breast cancer assay. Int J Womens Health 10:89–100

    Article  Google Scholar 

  • Syed YY (2016) Eteplirsen: first global approval. Drugs 76(17):1699–1704

    Article  CAS  Google Scholar 

  • Torga G, Pienta KJ (2018) Patient-paired sample congruence between 2 commercial liquid biopsy tests. JAMA Oncol 4(6):868–870

    Article  Google Scholar 

  • Wiencek JR, Lo SF (2018) Advances in the diagnosis and management of cystic fibrosis in the genomic era. Clin Chem 64(6):898–908

    Article  CAS  Google Scholar 

  • Yokota T, Pistilli E, Duddy W, Nagaraju K (2007) Potential of oligonucleotide-mediated exon-skipping therapy for Duchenne muscular dystrophy. Expert Opin Biol Ther 7(6):831–842

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Opus Three LLC Life Sciences, Pescadero, CA, USA

    Federico Goodsaid & Felix Frueh

  2. Department of Translational Medicine, Global R&D, Teva Pharmaceuticals, Frazer, PA, USA

    Michael E. Burczynski

Authors
  1. Federico Goodsaid
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  2. Felix Frueh
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  3. Michael E. Burczynski
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Corresponding author

Correspondence to Michael E. Burczynski .

Editor information

Editors and Affiliations

  1. CorDynamics , Dieburg, Germany

    Franz J. Hock

  2. CorDynamics , Chicago, IL, USA

    Michael R. Gralinski

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Goodsaid, F., Frueh, F., Burczynski, M.E. (2019). Personalized Medicine. In: Hock, F., Gralinski, M. (eds) Drug Discovery and Evaluation: Methods in Clinical Pharmacology. Springer, Cham. https://doi.org/10.1007/978-3-319-56637-5_47-1

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  • DOI: https://doi.org/10.1007/978-3-319-56637-5_47-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-56637-5

  • Online ISBN: 978-3-319-56637-5

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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