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Genomic Approaches to Disease Diagnosis and Prevention

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Personalized Oral Health Care

Abstract

Genomic approaches are the basis for proposing personalization of medicine, a philosophy that customizes healthcare using molecular analysis to guide medical decisions tailoring them to individual patients. Specific treatments will be prescribed only to patients who will positively respond to them, avoiding additional suffering and costs and focusing on therapies that better suit each particular case. This chapter briefly revisits the current state of the art of genomics, transcriptomics, proteomics, and pharmacogenomics and proposes that greater emphasis on phenomics will possibly accelerate discovery and implementation of a healthcare system that utilizes molecular information for bedside care.

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References

  1. Botstein D, White RL, Skolnick M, Favis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980;32:314–31.

    PubMed Central  PubMed  Google Scholar 

  2. Donis-Keller H, Green P, Helms C, Cartinhour S, Weiffenbach B, Stephens K, et al. A genetic linkage map of the human genome. Cell. 1987;51:319–37.

    Article  PubMed  Google Scholar 

  3. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, et al. The 1993–94 Généthon human genetic linkage map. Nat Genet. 1994;7:246–339.

    Article  PubMed  Google Scholar 

  4. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science. 1994;265:2049–54.

    Article  PubMed  Google Scholar 

  5. The International Human Genome Mapping Consortium. A physical map of the human genome. Nature. 2001;409:934–41.

    Article  Google Scholar 

  6. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009;106:19096–101.

    Article  PubMed Central  PubMed  Google Scholar 

  7. Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011;89:289–94.

    Article  PubMed Central  PubMed  Google Scholar 

  8. Kumar SV, Hurteau GJ, Spivack SD. Validity of messenger RNA expression analysis of human sliva. Clin Cancer Res. 2006;12:5033–9.

    Article  PubMed  Google Scholar 

  9. Rezende TMB, Lima SMF, Petriz BA, Silva ON, Freire MS, Franco OL. Dentistry proteomics: from laboratory development to clinical practice. J Cell Physiol. 2013;228:2271–84.

    Article  PubMed  Google Scholar 

  10. Eng G, Chen A, Vess T, Ginsburg GS. Genome technologies and personalized dental medicine. Oral Dis. 2012;18:223–35.

    Article  PubMed  Google Scholar 

  11. Shi M, Christensen K, Weinberg CR, Romitti P, Bathem L, Lozada A, et al. Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Am J Hum Genet. 2007;80:76–90.

    Article  PubMed Central  PubMed  Google Scholar 

  12. Dere WH, Suto TS. The role of pharmacogenomics and pharmacogenomics in improving translational medicine. Clin Cases Miner Bone Metab. 2009;6:13–6.

    PubMed Central  PubMed  Google Scholar 

  13. Stallings SC, Huse D, Finkelstein SN, Crown WH, Witt WP, Maguire J, et al. A framework to evaluate the economic impact of pharmacogenomics. Pharmacogenomics. 2006;7:853–62.

    Article  PubMed  Google Scholar 

  14. Ohashi J, Tokunaga K. The power of genome-wide association studies of complex disease genes; statistical limitations of indirect approaches using SNP markers. J Hum Genet. 2001;46:478–82.

    Article  PubMed  Google Scholar 

  15. Letra A, Menezes R, Granjeiro JM, Vieira AR. Defining cleft subphenotypes based on dental development. J Dent Res. 2007;86:986–91.

    Article  PubMed Central  PubMed  Google Scholar 

  16. Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genet Med. 2008;10:668–74.

    Article  PubMed Central  PubMed  Google Scholar 

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Correspondence to Alexandre R. Vieira DDS, MS, PhD .

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Vieira, A.R. (2015). Genomic Approaches to Disease Diagnosis and Prevention. In: Polverini, P. (eds) Personalized Oral Health Care. Springer, Cham. https://doi.org/10.1007/978-3-319-23297-3_2

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  • DOI: https://doi.org/10.1007/978-3-319-23297-3_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-23296-6

  • Online ISBN: 978-3-319-23297-3

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