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Personalized Medicine: What’s in it for Rare Diseases?

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Rare Diseases Epidemiology: Update and Overview

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

Personalised Medicine has become a reality over the last years. The emergence of ‘omics’ and big data has started revolutionizing healthcare. New ‘omics’ technologies lead to a better molecular characterization of diseases and a new understanding of the complexity of diseases. The approach of PM is already successfully applied in different healthcare areas such as oncology, cardiology, nutrition and for rare diseases. However, health systems across the EU are often still promoting the ‘one-size fits all’ approach, even if it is known that patients do greatly vary in their molecular characteristics and response to drugs and other interventions. To make use of the full potentials of PM in the next years ahead several challenges need to be addressed such as the integration of big data, patient empowerment, translation of basic to clinical research, bringing the innovation to the market and shaping sustainable healthcare systems.

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References

  1. Alyass A, Turcotte M, Meyre D (2015) From big data analysis to personalized medicine for all: challenges and opportunities. BMC Med Genet 8(1):33

    Google Scholar 

  2. Auffray C, Balling R, Barroso I, Bencze L, Benson M, Bergeron J, Bernal-Delgado E, Blomberg N, Bock C, Conesa A (2016) Making sense of big data in health research: towards an EU action plan. Genome Med 8(1):1

    Article  Google Scholar 

  3. Bereczki D (2012) Personalized medicine: a competitor or an upgrade of evidence-based medicine? Per Med 9(2):211–221

    Article  Google Scholar 

  4. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14(10):681–691

    Article  CAS  PubMed  Google Scholar 

  5. Cutica I, Mc Vie G, Pravettoni G (2014) Personalised medicine: the cognitive side of patients. Eur J Intern Med 25(8):685–688

    Article  PubMed  Google Scholar 

  6. Directorate-General for Internal Policies – European Parliament (2015) Towards a harmonised EU assessment of the added therapeutic value of medicines. European Parliament, Brussels

    Google Scholar 

  7. Estape EA, Mays MH, Sternke EA (2016) Translation in data mining to advance personalized medicine for health equity. Intell Inf Manag 8(01):9

    PubMed  PubMed Central  Google Scholar 

  8. European Alliance for Personalised Medicine (2013) Innovation and patient access to personalised medicine. Report from Irish Presidency Conference Brussels

    Google Scholar 

  9. European Alliance for Personalised Medicine (2014) MEP’s Briefing Paper 2014–2019 Legislature

    Google Scholar 

  10. European Commission (2016) European networks of reference for rare diseases. http://ec.europa.eu/health/rare_diseases/european_reference_networks/erf_en. Accessed 7 Dec 2016

  11. European Commission (2014) The use of big data in public health policy research

    Google Scholar 

  12. European Commission (2016) Towards an International Consortium for Personalised Medicine (IC PerMed)

    Google Scholar 

  13. European Commission (2012) Biobanks for Europe. A challenge for governance Belgium

    Google Scholar 

  14. European Commission (2013) Use of “-omics” technologies in the development of personalised medicine Belgium

    Google Scholar 

  15. European Commission (2014) Advice for 2016/2017 of the Horizon 2020 advisory group for societal challenge 1, “Health, Demographic Change and Wellbeing”

    Google Scholar 

  16. European Federation of Pharmaceutical Industries and Associations (2014) What are Medicines Adaptive Pathways to Patients (MAPPs)?

    Google Scholar 

  17. European Federation of Pharmaceutical Industries and Associations (2010) Patients W.A.I.T. Indicator

    Google Scholar 

  18. European Science Foundation (2012) Personalised medicine for the European citizen. Towards more precise medicine for the diagnosis, treatment and prevention of disease (iPM) European Science Foundation, Strasbourg November

    Google Scholar 

  19. Ferrario A, Kanavos P (2013) Managed entry agreements for pharmaceuticals: the European experience. London school of economics and political science 154

    Google Scholar 

  20. Francioso S, Almerighi C, Forte P, Bandiera F, Nosotti L, Lionetti R, Taliani G, Piras MR, Ponti ML, Parruti G (2014) A simple rule to personalize standard dual therapy across all genotypes in naive chronic hepatitis C patients: the TT4 randomized trial. Dig Liver Dis 46(2):164–169

    Article  PubMed  Google Scholar 

  21. Gantz J, Reinsel D (2012) The digital universe in 2020: big data, bigger digital shadows, and biggest growth in the far east. IDC iView: IDC Analyze the future 2007:1–16

    Google Scholar 

  22. Garfield S (2011) Advancing access to personalized medicine: a comparative assessment of European reimbursement systems. Personalized Medicine Coalition Bridgehead International

    Google Scholar 

  23. Gomes L (2015) Tech giants bet on biometrics. IEEE Spectr 52(6):52–55

    Article  Google Scholar 

  24. Hafen E, Kossmann D, Brand A (2014) Health data cooperatives–citizen empowerment. Methods Inf Med 53(8)

    Google Scholar 

  25. Horgan D, Jansen M, Leyens L, Lal JA, Sudbrak R, Hackenitz E, Bußhoff U, Ballensiefen W, Brand A (2014) An index of barriers for the implementation of personalised medicine and pharmacogenomics in Europe. Public Health Genomics 17(5–6):287–298

    Article  PubMed  Google Scholar 

  26. Horgan D, Paradiso A, McVie G, Banks I, Van der Wal T, Brand A, Lawler M (2015) Is precision medicine the route to a healthy world? Lancet 386(9991):336–337

    Article  PubMed  Google Scholar 

  27. Ianuale C, Leoncini E, Mazzucco W, Marzuillo C, Villari P, Ricciardi W, Boccia S (2014) Public health genomics education in post-graduate schools of hygiene and preventive medicine: a cross-sectional survey. BMC Med Educ 14(1):213

    Article  PubMed  PubMed Central  Google Scholar 

  28. IDC (2016) Big data and analytics is increasingly a game of inches. https://www.idc.com/prodserv/4Pillars/bigdata

  29. Intel (2013) Care customization: Appying big data to clinical analytics and life sciences

    Google Scholar 

  30. Kanavos P, Vandoros S, Irwin R, Nicod E, Casson M (2011) Differences in costs of and access to pharmaceutical products in the EU

    Google Scholar 

  31. Kickbusch I, Wait S, Maag D, Banks I (2006) Navigating health. The role of health literacy. Alliance for Health and the Future, International Longevity Centre-UK, London

    Google Scholar 

  32. Lehrach H (2015) Virtual clinical trials, an essential step in increasing the effectiveness of the drug development process. Public Health Genomics 18(6):366–371

    Article  PubMed  Google Scholar 

  33. Lehrach H (2012) A revolution in healthcare: challenges and opportunities for personalized medicine. Per Med 9(2):105–108

    Article  Google Scholar 

  34. Leopold C, Vogler S, Habl C, Mantel-Teeuwisse A, Espin J (2013) Personalised medicine as a challenge for public pricing and reimbursement authorities–a survey among 27 European countries on the example of trastuzumab. Health Policy 113(3):313–322

    Article  CAS  PubMed  Google Scholar 

  35. Leyens L, Brand A (2016) Early patient access to medicines: health technology assessment bodies need to catch up with new marketing authorization methods. Public Health Genomics 19(3):187–191

    Article  PubMed  PubMed Central  Google Scholar 

  36. Leyens L, Horgan D, Lal JA, Steinhausen K, Satyamoorthy K, Brand A (2014) Working towards personalization in medicine: main obstacles to reaching this vision from today’s perspective. Per Med 11(7):641–649

    Article  CAS  Google Scholar 

  37. Leyens L, Reumann M, Malats N, Brand A (2017) Use of big data for drug development and for public and personal health and care. Genet Epidemiol 41(1):51–60

    Article  PubMed  Google Scholar 

  38. Loscalzo J, Kohane I, Barabasi AL (2007) Human disease classification in the postgenomic era: a complex systems approach to human pathobiology. Mol Syst Biol 3(1):124

    PubMed  PubMed Central  Google Scholar 

  39. Martin-Sanchez F, Verspoor K (2014) Big data in medicine is driving big changes. Yearb Med Inform 9(1):14–20

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. McGovern L, Miller G, Hughes-Cromwick P (2014) The relative contribution of multiple determinants to health outcomes. Health Aff (Millwood) (2):1–9. http://healthaffairs.org/healthpolicybriefs/brief_pdfs/healthpolicybrief_123.pdf

  41. McGregor C, James A, Eklund M, Sow DM, Ebling M, Blount M (2013) Real-time multidimensional temporal analysis of complex high volume physiological data streams in the neonatal intensive care unit. In: MedInfo, pp 362–366

    Google Scholar 

  42. Meyer M (2015) Digitale chancen: next generation healthcare – siemens keynote

    Google Scholar 

  43. Negrouk A, Horgan D, Gorini A, Cutica I, Leyens L, Schee genannt Halfmann S, Pravettoni G (2015) Clinical trials, data protection and patient empowerment in the era of the new EU regulations. Public Health Genomics 18(6):386–395

    Article  PubMed  Google Scholar 

  44. Ogino S, Fuchs CS, Giovannucci E (2012) How many molecular subtypes? implications of the unique tumor principle in personalized medicine. Expert Rev Med Diagn 12(6):621–628

    Article  CAS  Google Scholar 

  45. Palau F (2012) Personalized medicine in rare diseases. Per Med 9(2):137–141

    Article  Google Scholar 

  46. Pavelić K, Martinović T, Pavelić SK (2015) Do we understand the personalized medicine paradigm? EMBO Rep 16(2):133–136

    Article  PubMed  Google Scholar 

  47. PerMed (2015) Shaping Europe’s vision for personalised medicine – Strategic Research Innovation Agenda (SRIA)

    Google Scholar 

  48. Powers Dirette D (2015) Personalized medicine: definitions, history, and implications for the OT profession. Open JOccup Ther 3(4):1

    Google Scholar 

  49. Roden DM (2015) Cardiovascular pharmacogenomics: current status and future directions. J Hum Genet 61(1):79–85

    Article  PubMed  PubMed Central  Google Scholar 

  50. Rometty V (2014) The year of the smarter enterprise. The economist, The world in

    Google Scholar 

  51. Rose J, Rehse O, Röber B (2012) The value of our digital identity. Boston Cons Gr

    Google Scholar 

  52. Sackett DL, Rosenberg WM, Gray JM, Haynes RB, Richardson WS (1996) Evidence based medicine: what it is and what it isn’t. BMJ 312(7023):71–72

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  53. Schleidgen S, Klingler C, Bertram T, Rogowski WH, Marckmann G (2013) What is personalized medicine: sharpening a vague term based on a systematic literature review. BMC Med Ethics 14(1):55

    Article  PubMed  PubMed Central  Google Scholar 

  54. Schork NJ (2015) Personalized medicine: time for one-person trials. Nature 520(7549):609–611

    Article  CAS  PubMed  Google Scholar 

  55. Snyderman R (2014) Personalized medicine 2014: has healthcare been transformed? Per Med 11(4):365–368

    Article  CAS  Google Scholar 

  56. Sørensen K, Pelikan JM, Röthlin F, Ganahl K, Slonska Z, Doyle G, Fullam J, Kondilis B, Agrafiotis D, Uiters E (2015) Health literacy in Europe: comparative results of the European health literacy survey (HLS-EU). Eur J Public Health 25(6):1053–1058

    Article  PubMed  PubMed Central  Google Scholar 

  57. Spear BB, Heath-Chiozzi M, Huff J (2001) Clinical application of pharmacogenetics. Trends Mol Med 7(5):201–204

    Article  CAS  PubMed  Google Scholar 

  58. Taylor D, Al-Saeed E (2010) Can (and will) governments afford personalized medicine? Per Med 7(5):587–595

    Article  Google Scholar 

  59. Turner RM, Pirmohamed M (2014) Cardiovascular pharmacogenomics: expectations and practical benefits. Clin Pharmacol Ther 95(3):281–293

    Article  CAS  PubMed  Google Scholar 

  60. Zhang J, Chiodini R, Badr A, Zhang G (2011) The impact of next-generation sequencing on genomics. J Genet Genomics 38(3):95–109

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgment

Part of the research leading to this book chapter has received funding from the European Union Seventh Framework Programme (FP7/2007–2013) under grant agreement No. 602139 (CSA PerMed, 2013–2015) and under grant agreement No. 305690 (RARE-Bestpractices, 2013–2016).

Author information

Authors and Affiliations

  1. Maastricht Economic and Social Research Institute on Innovation and Technology (MERIT), Maastricht University, Boschstraat 24, 6211AX, Maastricht, The Netherlands

    Sebastian Schee genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann & Angela Brand

  2. Department of Psyciatry (UPK), University of Basel, Wilhelm Klein. Strasse 27, 4012, Basel, Switzerland

    Laura Mählmann

  3. Swissmedic, Hallerstrasse, 7, P.O. Box, 3000, Bern 9, Switzerland

    Lada Leyens

  4. IBM Research–Zurich, Saeumerstrasse 4, 8803, Rueschlikon, Switzerland

    Matthias Reumann

  5. Department of International Health, Faculty of Health, Medicine and Life Sciences, Maastricht University, Duboisdomein 30, 6229GT, Maastricht, The Netherlands

    Angela Brand

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  1. Sebastian Schee genannt Halfmann
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  2. Laura Mählmann
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  3. Lada Leyens
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  4. Matthias Reumann
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  5. Angela Brand
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Corresponding author

Correspondence to Angela Brand .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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Schee genannt Halfmann, S., Mählmann, L., Leyens, L., Reumann, M., Brand, A. (2017). Personalized Medicine: What’s in it for Rare Diseases?. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_22

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