Advertisement

Personalized Medicine

  • Federico Goodsaid
  • Felix Frueh
  • Michael E. Burczynski
Living reference work entry

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.

References and Further Reading

  1. Alix-Panabières C, Pantel K (2013) Circulating tumor cells: liquid biopsy of cancer. Clin Chem 59(1):110–118CrossRefGoogle Scholar
  2. 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
  3. 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):1073–1082CrossRefGoogle Scholar
  4. Brandão M, Pondé N, Piccart-Gebhart M (2018) Mammaprint™: a comprehensive review. Future Oncol.  https://doi.org/10.2217/fon-2018-0221
  5. Brooks JJ (1982) Immunohistochemistry of soft tissue tumors: progress and prospects. Hum Pathol 13(11):969–974CrossRefGoogle Scholar
  6. Cheong PL, Caramins M (2014) Approaches for classifying DNA variants found by Sanger sequencing in a medical genetics laboratory. Methods Mol Biol 1168:227–250CrossRefGoogle Scholar
  7. Cholon DM, Gentzsch M (2018) Recent progress in translational cystic fibrosis research using precision medicine strategies. J Cyst Fibros 17(2S):S52–S60CrossRefGoogle Scholar
  8. Dawson SJ (2018) Characterizing the cancer genome in blood. Cold Spring Harb Perspect Med.  https://doi.org/10.1101/cshperspect.a026880. pii: a026880
  9. 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):1CrossRefGoogle Scholar
  10. Gao QQ, McNally EM (2015) The dystrophin complex: structure, function, and implications for therapy. Compr Physiol 5(3):1223–1239CrossRefGoogle Scholar
  11. 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):290–303CrossRefGoogle Scholar
  12. 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):596–603CrossRefGoogle Scholar
  13. 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):12316–12322CrossRefGoogle Scholar
  14. Hoffman EP (1989) Human molecular genetics and the elucidation of the primary biochemical defect in Duchenne muscular dystrophy. Cell Motil Cytoskeleton 14(1):163–168CrossRefGoogle Scholar
  15. 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):354–360CrossRefGoogle Scholar
  16. 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–692sCrossRefGoogle Scholar
  17. Jørgensen JT (2013) Companion diagnostics in oncology – current status and future aspects. Oncology 85(1):59–68CrossRefGoogle Scholar
  18. 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):1556–1563CrossRefGoogle Scholar
  19. 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):99–109CrossRefGoogle Scholar
  20. 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):67Google Scholar
  21. Lim KR, Maruyama R, Yokota T (2017) Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Des Devel Ther 11:533–545CrossRefGoogle Scholar
  22. Lin CH, Lin E, Lane HY (2017) Genetic biomarkers on age-related cognitive decline. Front Psych 8:247CrossRefGoogle Scholar
  23. Linsdell P (2017) Structural changes fundamental to gating of the cystic fibrosis transmembrane conductance regulator anion channel pore. Adv Exp Med Biol 925:13–32CrossRefGoogle Scholar
  24. Loewe RP (2013) Combinational usage of next generation sequencing and qPCR for the analysis of tumor samples. Methods 59(1):126–131CrossRefGoogle Scholar
  25. 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 335:135–145PubMedGoogle Scholar
  26. 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 4:27CrossRefGoogle Scholar
  27. 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.7805CrossRefPubMedPubMedCentralGoogle Scholar
  28. 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):691–708CrossRefGoogle Scholar
  29. Moran O (2017) The gating of the CFTR channel. Cell Mol Life Sci 74(1):85–92CrossRefGoogle Scholar
  30. 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):2270–2279CrossRefGoogle Scholar
  31. Randeree L, Eslick GD (2018) Eteplirsen for paediatric patients with Duchenne muscular dystrophy: a pooled-analysis. J Clin Neurosci 49:1–6CrossRefGoogle Scholar
  32. Ross JS, Hatzis C, Symmans WF, Pusztai L, Hortobágyi GN (2008) Commercialized multigene predictors of clinical outcome for breast cancer. Oncologist 13(5):477–493CrossRefGoogle Scholar
  33. 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):621–637CrossRefGoogle Scholar
  34. 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–E457Google Scholar
  35. 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 10:89–100CrossRefGoogle Scholar
  36. Syed YY (2016) Eteplirsen: first global approval. Drugs 76(17):1699–1704CrossRefGoogle Scholar
  37. Torga G, Pienta KJ (2018) Patient-paired sample congruence between 2 commercial liquid biopsy tests. JAMA Oncol 4(6):868–870CrossRefGoogle Scholar
  38. Wiencek JR, Lo SF (2018) Advances in the diagnosis and management of cystic fibrosis in the genomic era. Clin Chem 64(6):898–908CrossRefGoogle Scholar
  39. 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):831–842CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Federico Goodsaid
    • 1
  • Felix Frueh
    • 1
  • Michael E. Burczynski
    • 2
  1. 1.Opus Three LLC Life SciencesPescaderoUSA
  2. 2.Department of Translational Medicine, Global R&DTeva PharmaceuticalsFrazerUSA

Personalised recommendations