Korean Circ J.  2012 Sep;42(9):583-591. 10.4070/kcj.2012.42.9.583.

Personalized Medicine in Cardiovascular Diseases

Affiliations
  • 1Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA. lerman.amir@mayo.edu
  • 2Department of Preventive Medicine, College of Medicine, Konyang University, Daejeon, Korea.
  • 3Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

Abstract

Personalized medicine is a novel medical model with all decisions and practices being tailored to individual patients in whatever ways possible. In the era of genomics, personalized medicine combines the genetic information for additional benefit in preventive and therapeutic strategies. Personalized medicine may allow the physician to provide a better therapy for patients in terms of efficiency, safety and treatment length to reduce the associated costs. There was a remarkable growth in scientific publication on personalized medicine within the past few years in the cardiovascular field. However, so far, only very few cardiologists in the USA are incorporating personalized medicine into clinical treatment. We review the concepts, strengths, limitations and challenges of personalized medicine with a particular focus on cardiovascular diseases (CVDs). There are many challenges from both scientific and policy perspectives to personalized medicine, which can overcome them by comprehensive concept and understanding, clinical application, and evidence based practices. Individualized medicine serves a pivotal role in the evolution of national and global healthcare reform, especially, in the CVDs fields. Ultimately, personalized medicine will affect the entire landscape of health care system in the near future.

Keyword

Personalized medicine; Cardiovascular diseases; Genomics

MeSH Terms

Cardiovascular Diseases
Delivery of Health Care
Genomics
Health Care Reform
Humans
Precision Medicine
Publications

Figure

  • Fig. 1 The role of genome-based information across the continuum of health to disease. Currently, in the time course of a chronic disease (line), treatment usually occurs at the point in the disease process indicated by "typical current intervention"-a point where it is most costly to treat and where prospects for reversibility are low. Novel genome-based biomarkers can help clinicians identify baseline risks as well as early initiating events in disease. Source. Ginsburg GS, Willard HF. Genomic and personalized medicine: foundations and applications. Transl. Res. 2009;154:277-87. Refigured and modified with permission from Author.


Reference

1. Shapiro SD. Merging personalized medicine and biology of aging in chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2011. 184:864–866.
2. Aspinall MG, Hamermesh RG. Realizing the promise of personalized medicine. Harv Bus Rev. 2007. 85:108–117. 165
3. Piquette-Miller M, Grant DM. The art and science of personalized medicine. Clin Pharmacol Ther. 2007. 81:311–315.
4. Spear BB, Heath-Chiozzi M, Huff J. Clinical application of pharmacogenetics. Trends Mol Med. 2001. 7:201–204.
5. Lunshof JE, Pirmohamed M, Gurwitz D. Personalized medicine: decades away? Pharmacogenomics. 2006. 7:237–241.
6. Kongkaew C, Noyce PR, Ashcroft DM. Hospital admissions associated with adverse drug reactions: a systematic review of prospective observational studies. Ann Pharmacother. 2008. 42:1017–1025.
7. The International HapMap Consortium. International HapMap Project. Accessed on: July 2, 2012. Available at: http://hapmap.ncbi.nlm.nih.gov.
8. Guttmacher AE, Collins FS. Genomic medicine--a primer. N Engl J Med. 2002. 347:1512–1520.
9. Chan IS, Ginsburg GS. Personalized medicine: progress and promise. Annu Rev Genomics Hum Genet. 2011. 12:217–244.
10. Manace LC, Godiwala TN, Babyatsky MW. Genomics of cardiovascular disease. Mt Sinai J Med. 2009. 76:613–623.
11. Hudson TJ. Personalized medicine: a transformative approach is needed. CMAJ. 2009. 180:911–913.
12. Collins F. Has the revolution arrived? Nature. 2010. 464:674–675.
13. Ku CS, Loy EY, Salim A, Pawitan Y, Chia KS. The discovery of human genetic variations and their use as disease markers: past, present and future. J Hum Genet. 2010. 55:403–415.
14. Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest. 2008. 118:1590–1605.
15. Ginsburg GS, Willard HF. Genomic and personalized medicine: foundations and applications. Transl Res. 2009. 154:277–287.
16. Hamburg MA, Collins FS. The path to personalized medicine. N Engl J Med. 2010. 363:301–304.
17. Bonter K, Desjardins C, Currier N, Pun J, Ashbury FD. Personalised medicine in Canada: a survey of adoption and practice in oncology, cardiology and family medicine. BMJ Open. 2011. 1:e000110.
18. Bates S. Progress towards personalized medicine. Drug Discov Today. 2010. 15:115–120.
19. Wright CF, Kroese M. Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how? Hum Genet. 2010. 127:125–134.
20. Lewin J. Genetics, Your Heart and Your Future, The American College of Cardiology. 2011. 01. 06. Available at: http://www.personalizedmedicinecoalition.org/sites/default/files/files/Jack%20Lewin.pdf.
21. Jørgensen JT. A challenging drug development process in the era of personalized medicine. Drug Discov Today. 2011. 16:891–897.
22. Zineh I, Pebanco GD, Aquilante CL, et al. Discordance between availability of pharmacogenetics studies and pharmacogenetics-based prescribing information for the top 200 drugs. Ann Pharmacother. 2006. 40:639–644.
23. US President's Council of Advisors on Science and Technology (PCAST). Priorities for Personalized Medicine. 2008. 09. 15. Washington DC: Executive Office of the President of United States.
24. Aquilante C. Pharmacogenomics: The Promise of Personalized Medicine. 2007. Denver: University of Colorado.
25. Kasper DL, Braunwald E, Fauci AS, et al. Harrison's principles of internal medicine. 2008. 17th ed. New York: McGraw-Hill Medical Publishing Division.
26. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001. 103:89–95.
27. Bristow M. New Frontiers in Personalized Medicine: Cardiovascular Research and Clinical Care. Personalized Medicine Coalition. 2011. 01. 06. Washington DC: The George Washington University.
28. The National Forum for Heart Disease and Stroke Prevention. Update to A Public Health Action Plan to Prevent Heart disease and Stroke. 2008. Washington DC: Nexus.
29. Ruben RJ. Otitis media: the application of personalized medicine. Otolaryngol Head Neck Surg. 2011. 145:707–712.
30. Kardia SL, Modell SM, Peyser PA. Family-centered approaches to understanding and preventing coronary heart disease. Am J Prev Med. 2003. 24:143–151.
31. Lloyd-Jones DM, Nam BH, D'Agostino RB Sr, et al. Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: a prospective study of parents and offspring. JAMA. 2004. 291:2204–2211.
32. Marenberg ME, Risch N, Berkman LF, Floderus B, de Faire U. Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med. 1994. 330:1041–1046.
33. Arnar DO, Thorvaldsson S, Manolio TA, et al. Familial aggregation of atrial fibrillation in Iceland. Eur Heart J. 2006. 27:708–712.
34. Fox CS, Parise H, D'Agostino RB Sr, et al. Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA. 2004. 291:2851–2855.
35. Lee DS, Pencina MJ, Benjamin EJ, et al. Association of parental heart failure with risk of heart failure in offspring. N Engl J Med. 2006. 355:138–147.
36. Peyser PA, Bielak LF, Chu JS, et al. Heritability of coronary artery calcium quantity measured by electron beam computed tomography in asymptomatic adults. Circulation. 2002. 106:304–308.
37. O'Donnell CJ, Chazaro I, Wilson PW, et al. Evidence for heritability of abdominal aortic calcific deposits in the Framingham Heart Study. Circulation. 2002. 106:337–341.
38. Manolio TA, Boerwinkle E, O'Donnell CJ, Wilson AF. Genetics of ultrasonographic carotid atherosclerosis. Arterioscler Thromb Vasc Biol. 2004. 24:1567–1577.
39. O'Donnell CJ, Nabel EG. Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era. Circ Cardiovasc Genet. 2008. 1:51–57.
40. Arnett DK, Baird AE, Barkley RA, et al. Relevance of genetics and genomics for prevention and treatment of cardiovascular disease: a scientific statement from the American Heart Association Council on Epidemiology and Prevention, the Stroke Council, and the Functional Genomics and Translational Biology Interdisciplinary Working Group. Circulation. 2007. 115:2878–2901.
41. National Heart, Lung, and Blood Institute. Summary Report. National Heart, Lung, and Blood Institute Working Group on Atheroprotective Genes. 2000. 03. 29. Accessed on: July 2, 2012. Available at: http://www.nhlbi.nih.gov/meetings/workshop/athro_rpt.htm.
42. Nordlie MA, Wold LE, Kloner RA. Genetic contributors toward increased risk for ischemic heart disease. J Mol Cell Cardiol. 2005. 39:667–679.
43. Hindorff LA, Junkins HA, Hall PN, Mehta JP, Manolio TO. A catalog of published genome-wide association studies. 2011. Accessed on: May 27, 2011. Available at: http://www.genome.gov/gwastudies.
44. Helgadottir A, Thorleifsson G, Manolescu A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007. 316:1491–1493.
45. McCarthy JJ, Parker A, Salem R, et al. Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes. J Med Genet. 2004. 41:334–341.
46. McPherson R, Pertsemlidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007. 316:1488–1491.
47. Samani NJ, Erdmann J, Hall AS, et al. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007. 357:443–453.
48. Topol EJ, McCarthy J, Gabriel S, et al. Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction. Circulation. 2001. 104:2641–2644.
49. Thomas M, Lieberman J, Lal A. Desperately seeking microRNA targets. Nat Struct Mol Biol. 2010. 17:1169–1174.
50. Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther. 2001. 69:89–95.
51. Genentech USA Inc. PERSONALIZED MEDICINE: Identifying the Appropriate Patient Through Biomarkers in Oncology. Manag Care. 2011. 20(7):Supplement 3.
52. Roden DM, Altman RB, Benowitz NL, et al. Pharmacogenomics: challenges and opportunities. Ann Intern Med. 2006. 145:749–757.
53. Tester DJ, Ackerman MJ. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation. 2011. 123:1021–1037.
54. Shimizu W. Clinical impact of genetic studies in lethal inherited cardiac arrhythmias. Circ J. 2008. 72:1926–1936.
55. Mateos-Cáceres PJ, García-Méndez A, López Farré A, et al. Proteomic analysis of plasma from patients during an acute coronary syndrome. J Am Coll Cardiol. 2004. 44:1578–1583.
56. Sabatine MS, Liu E, Morrow DA, et al. Metabolomic identification of novel biomarkers of myocardial ischemia. Circulation. 2005. 112:3868–3875.
57. Parguiña AF, Grigorian-Shamajian L, Agra RM, et al. Proteins involved in platelet signaling are differentially regulated in acute coronary syndrome: a proteomic study. PLoS One. 2010. 5:e13404.
58. Deng MC, Eisen HJ, Mehra MR, et al. Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. Am J Transplant. 2006. 6:150–160.
59. Degoma EM, Rivera G, Lilly SM, Usman MH, Mohler ER 3rd. Personalized vascular medicine: individualizing drug therapy. Vasc Med. 2011. 16:391–404.
60. Voora D, McLeod HL, Eby C, Gage BF. The pharmacogenetics of coumarin therapy. Pharmacogenomics. 2005. 6:503–513.
61. Weinshilboum R. Inheritance and drug response. N Engl J Med. 2003. 348:529–537.
62. Aithal GP, Day CP, Kesteven PJ, Daly AK. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet. 1999. 353:717–719.
63. US Food and Drug Administration. FDA approves updated warfarin (Coumadin®) prescribing information. 2007. 08. 16. Available at: http://www.fda.gov/bbs/topics/news/2007/new01684.html.
64. Lerman A, Zeiher AM. Endothelial function: cardiac events. Circulation. 2005. 111:363–368.
65. Deanfield JE, Halcox JP, Rabelink TJ. Endothelial function and dysfunction: testing and clinical relevance. Circulation. 2007. 115:1285–1295.
66. Ganz P, Vita JA. Testing endothelial vasomotor function: nitric oxide, a multipotent molecule. Circulation. 2003. 108:2049–2053.
67. Rubinshtein R, Yang EH, Rihal CS, et al. Coronary microcirculatory vasodilator function in relation to risk factors among patients without obstructive coronary disease and low to intermediate Framingham score. Eur Heart J. 2010. 31:936–942.
68. Rubinshtein R, Kuvin JT, Soffler M, et al. Assessment of endothelial function by non-invasive peripheral arterial tonometry predicts late cardiovascular adverse events. Eur Heart J. 2010. 31:1142–1148.
69. Hamburg NM, Keyes MJ, Larson MG, et al. Cross-sectional relations of digital vascular function to cardiovascular risk factors in the Framingham Heart Study. Circulation. 2008. 117:2467–2474.
70. McCrea CE, Skulas-Ray AC, Chow M, West SG. Test-retest reliability of pulse amplitude tonometry measures of vascular endothelial function: implications for clinical trial design. Vasc Med. 2012. 17:29–36.
71. Monroe JB. A coalition to drive personalized medicine forward. Pers Med. 2004. 1:9–13.
72. Kramer BS, Croswell JM. Cancer screening: the clash of science and intuition. Annu Rev Med. 2009. 60:125–137.
73. Weinshilboum R. Inheritance and drug response. N Engl J Med. 2003. 348:529–537.
74. Johnson JA, Lima JJ. Drug receptor/effector polymorphisms and pharmacogenetics: current status and challenges. Pharmacogenetics. 2003. 13:525–534.
75. Personalized Medicine Coalition. The case for Personalized Medicine. 2009. 3rd ed. New York: Personalized Medicine Coalition.
76. Califf RM, Ginsburg GS. Organizational improvements to enhance modern clinical epidemiology. JAMA. 2008. 300:2300–2302.
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