Abstract
Most of the current drugs are approved and developed on the basis of their performance in a large population of people and each drug is prescribed to all patients with a certain diagnosis. However, medicine is now developing as personalized solutions for a particular patient’s needs. In case of complex disorders, the conventional “one-drug-fits-all” approach involves trial and error before an appropriate treatment is found. Clinical trial data for a new drug merely show the average response of a study group. There is considerable individual variation; some patients show no response whereas others show a dramatic response. Although approximately 99.9% of our DNA sequence is identical, the 0.1% difference between any two individuals (except identical twins) is medically significant. Buried within this small percentage of difference lie the clues to hereditary susceptibility to virtually all diseases. At the DNA level, this 0.1% difference translates into 3 million sites of genomic variation. Studies of structural variations (SV) in the human genome, cited later in this chapter, indicate that differences between individuals are much higher than 0.1%. It is obvious that the concept “one medicine for all patients with the same disease” does not hold and a more individualized approach is needed. Although individualization of certain treatments has been carried out in the pregenomic era, the concept of personalized medicine as described in this report follows progress in study of human diseases at molecular level, advances in molecular diagnostics, and genomics-based drug development. The aim of the personalized medicine is to match the right drug to the right patient and in some cases, even to design the treatment for a patient according to genotype and other individual characteristics. A broader term is integrated healthcare, which includes development of genomics-based personalized medicines, predisposition testing, preventive medicine, combination of diagnostics with therapeutics, and monitoring of therapy.
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References
Auffray C, Chen Z, Hood L (2009) Systems medicine: the future of medical genomics and healthcare. Genome Med 1(1):2.
Beutler E, Dern RJ, Alving AS (1955) The hemolytic effect of primaquine. VI. An in vitro test for sensitivity of erythrocytes to primaquine. J Lab Clin Med 45:40–50
Chae H, Park SH, Lee SJ et al (2004) Sasang typology from a personality perspective. J Korean Orient Med 25:151–164
Chopra A, Doiphode VV (2002) Ayurvedic medicine. Core concept, therapeutic principles, and current relevance. Med Clin North Am 86:75–89
Clamp M, Fry B, Kamal M et al (2007) Distinguishing protein-coding and noncoding genes in the human genome. Proc Natl Acad Sci USA 104:19428–19433
Cotton RG, Auerbach AD, Axton M et al (2008) The human variome project. Science 322:861–862
Fahy GM (1993) Molecular nanotechnology. Clin Chem 39:2011–2016
Garrod AE (1931) The inborn factors in disease. Oxford University Press, London.
Gosden RG, Feinberg AP (2007) Genetics and epigenetics nature’s pen-and-pencil set. N Eng J Med 356:731–733
Iafrate AJ, Feuk L, Rivera MN et al (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949–951
Jain KK (1973) Health care in new China. Rodale Press, Emmaus, PA.
Jain KK (1998a) Personalized medicine. Decision resources Inc. Waltham, MA.
Jain KK (2009m) Role of nanobiotechnology in the development of personalized medicine. Nanomed 4:249–252
Kalow W (1956) Familial incidence of low pseudocholinesterase level. Lancet 2:576–577
Kalow W (1962) Pharmacogenetics: heredity and the response to drugs. Saunders, Philadelphia.
Khaja R, Zhang J, MacDonald JR et al (2006) Genome assembly comparison identifies structural variants in the human genome. Nat Genet 38:1413–1418
Kidd JM, Cooper GM, Donahue WF et al (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453:56–64
Kim S, Misra A (2007) SNP Genotyping: technologies and biomedical applications. Annu Rev Biomed Eng 9:289–320
Korbel JO, Urban AE, Affourtit JP et al (2007) Paired-end mapping reveals extensive structural variation in the human genome. Science 318:420–426
Kuska B (1998) Beer, Bethesda, and biology: how “genomics” came into being. J Natl Cancer Inst 90:93.
Marshall A (1997) Genset-Abbott deal heralds pharmacogenomics era. Nat Biotechnol 15:829–830
Mills RE, Luttig CT, Larkins CE et al (2006) An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res 16:1182–1190
Motulsky AG (1957) Drug reactions, enzymes and biochemical genetics. JAMA 165:835–837
Mullis K, Faloona F, Scharf S et al (1986) Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harbor Symp Quant Biol 51:263–273
Redon R, Ishikawa S, Fitch KR et al (2006) Global variation in copy number in the human genome. Nature 444:444–454
Ross JR, Rutter D, Welsh K et al (2005) Clinical response to morphine in cancer patients and genetic variation in candidate genes. Pharmacogenomics J 5:324–336
Vogel F (1959) Moderne Probleme der Humangenetik. Ergeb Inn Med Kinderheilk 12:52–125
Voit E, Neves AR, Santos H (2006) The intricate side of systems biology. Proc Natl Acad Sci USA 103: 9452–9457
Watson JD, Crick FHC (1953) Genetic implications of the structure of deoxyribonucleic acid. Nature 171:964–969
Weston AD, Hood L (2004) Systems biology, proteomics, and the future of health care: toward predictive, preventative, and personalized medicine. J Proteome Res 3:179–196
Wilkins MR, Sanchez JC, Gooley AA et al (1995) Progress with proteome projects: why all proteins expressed by genome should be identified and how to do it. Biotech Genet Eng Rev 13:19–50
Wilson JM, Jungner YG (1968) Principles and practice of mass screening for disease. Bol Oficina Sanit Panam 65:281–393
Wist AD, Berger SI, Iyengar R (2009) Systems pharmacology and genome medicine: a future perspective. Genome Med 1:11 doi:10.1186/gm11
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Jain, K.K. (2009). Basics of Personalized Medicine. In: Textbook of Personalized Medicine. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-0769-1_1
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