About this Journal Submit a Manuscript Table of Contents
International Journal of Pediatrics
Volume 2013 (2013), Article ID 136524, 8 pages
http://dx.doi.org/10.1155/2013/136524
Review Article

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium

Received 15 June 2012; Accepted 20 December 2012

Academic Editor: Edward Y. Lee

Copyright © 2013 O. M. Vanakker and A. De Paepe. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. U. Amstutz and B. C. Carleton, “Pharmacogenetic testing: time for clinical practice guidelines,” Clinical Pharmacology and Therapeutics, vol. 89, no. 6, pp. 924–927, 2011. View at Publisher · View at Google Scholar · View at Scopus
  2. K. A. Neville, M. L. Becker, J. L. Goldman, and G. L. Kearns, “Developmental pharmacogenomics,” Paediatric Anaesthesia, vol. 21, no. 3, pp. 255–265, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. R. Russo, M. Capasso, P. Paolucci, and A. Iolascon, “Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives,” European Journal of Clinical Pharmacology, vol. 67, no. 1, supplement, pp. S17–S27, 2011. View at Publisher · View at Google Scholar · View at Scopus
  4. N. K. Zgheib, T. Arawi, R. A. Mahfouz, and R. Sabra, “Attitudes of health care professionals toward pharmacogenetic testing,” Molecular Diagnosis and Therapy, vol. 15, no. 2, pp. 115–122, 2011. View at Scopus
  5. F. Sanger, S. Nicklen, and A. R. Coulson, “DNA sequencing with chain-terminating inhibitors,” Proceedings of the National Academy of Sciences of the United States of America, vol. 74, no. 12, pp. 5463–5467, 1977.
  6. T. Tucker, M. Marra, and J. M. Friedman, “Massively parallel sequencing: the next big thing in genetic medicine,” American Journal of Human Genetics, vol. 85, no. 2, pp. 142–154, 2009. View at Publisher · View at Google Scholar · View at Scopus
  7. A. Desai and A. Jere, “Next-generation sequencing: ready for the clinics?” Clinical Genetics, vol. 81, no. 6, pp. 503–510, 2012.
  8. E. A. Ashley, A. J. Butte, M. T. Wheeler, et al., “Clinical assessment incorporating a personal genome,” The Lancet, vol. 375, no. 9725, pp. 1525–1535, 2010.
  9. X. Lin, W. Tang, S. Ahmad, et al., “Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities,” Hearing Research, vol. 288, no. 1-2, pp. 67–76, 2012.
  10. C. Gilissen, A. Hoischen, H. G. Brunner, and J. A. Veltman, “Disease gene identification strategies for exome sequencing,” European Journal of Human Genetics, vol. 20, no. 5, pp. 490–497, 2012.
  11. L. Sastre, “New DNA sequencing technologies open a promising era for cancer research and treatment,” Clinical and Translational Oncology, vol. 13, no. 5, pp. 301–306, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. C. Gonzaga-Jauregui, J. R. Lupski, and R. A. Gibbs, “Human genome sequencing in health and disease,” Annual Review of Medicine, vol. 63, no. 1, pp. 35–61, 2012.
  13. H. Varmus, “Ten years on—the human genome and medicine,” The New England Journal of Medicine, vol. 362, no. 21, pp. 2028–2029, 2010.
  14. R. Hoppe, H. Brauch, D. L. Kroetz, and M. Esteller, “Exploiting the complexity of the genome and transcriptome using pharmacogenomics towards personalized medicine,” Genome Biology, vol. 12, no. 1, article 301, 2011.
  15. Y. He, J. M. Hoskins, and H. L. McLeod, “Copy number variants in pharmacogenetic genes,” Trends in Molecular Medicine, vol. 17, no. 5, pp. 244–251, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. S. Ghosh, F. Krux, V. Binder, M. Gombert, T. Niehues, O. Feyen, et al., “Array-based sequence capture and next-generation sequencing for the identification of primary immunodeficiencies,” Scandinavian Journal of Immunology, vol. 75, no. 3, pp. 350–354, 2012.
  17. M. Nelen and J. A. Veltman, “Genome and exome sequencing in the clinic: unbiased genomic approaches with a high diagnostic yield,” Pharmacogenomics, vol. 13, no. 5, pp. 511–514, 2012.
  18. M. Margulies, M. Egholm, W. E. Altman et al., “Genome sequencing in microfabricated high-density picolitre reactors,” Nature, vol. 437, no. 7057, pp. 376–380, 2005. View at Publisher · View at Google Scholar · View at Scopus
  19. I. S. Kohane, “(Mis)treating the pharmacogenetic incidentalome,” Nature Reviews Drug Discovery, vol. 11, no. 2, pp. 89–90, 2012.
  20. E. R. Gamazon, A. D. Skol, and M. A. Perera, “The limits of genome-wide methods for pharmacogenomic testing,” Pharmacogenet Genomics, vol. 22, no. 4, pp. 261–272, 2012.
  21. T. J. Albert, M. N. Molla, D. M. Muzny et al., “Direct selection of human genomic loci by microarray hybridization,” Nature Methods, vol. 4, no. 11, pp. 903–905, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. J. Li, S. Wang, J. Barone, and B. Malone, “Warfarin pharmacogenomics,” P and T, vol. 34, no. 8, pp. 422–427, 2009. View at Scopus
  23. R. Kimura, K. Miyashita, Y. Kokubo et al., “Genotypes of vitamin K epoxide reductase, γ-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients,” Thrombosis Research, vol. 120, no. 2, pp. 181–186, 2007. View at Publisher · View at Google Scholar · View at Scopus
  24. J. F. Carlquist, B. D. Horne, J. B. Muhlestein et al., “Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose: a prospective study,” Journal of Thrombosis and Thrombolysis, vol. 22, no. 3, pp. 191–197, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. D. W. Stafford, “The vitamin K cycle,” Journal of Thrombosis and Haemostasis, vol. 3, no. 8, pp. 1873–1878, 2005.
  26. F. Takeuchi, R. McGinnis, S. Bourgeois et al., “A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose,” PLoS Genetics, vol. 5, no. 3, Article ID e1000433, 2009. View at Publisher · View at Google Scholar · View at Scopus
  27. S. T. Weiss, “New approaches to personalized medicine for asthma: where are we?” Journal of Allergy and Clinical Immunology, vol. 129, no. 2, pp. 327–334, 2012.
  28. T. E. Froehlich, J. J. McGough, and M. A. Stein, “Progress and promise of attention-deficit hyperactivity disorder pharmacogenetics,” CNS Drugs, vol. 24, no. 2, pp. 99–117, 2010. View at Publisher · View at Google Scholar · View at Scopus
  29. C. Kieling, J. P. Genro, M. H. Hutz, and L. A. Rohde, “A current update on ADHD pharmacogenomics,” Pharmacogenomics, vol. 11, no. 3, pp. 407–419, 2010.
  30. N. Kondo, E. Matsui, A. Nishimura, and H. Kaneko, “Pharmacogenetics of asthma in children,” Allergy, Asthma and Immunology Research, vol. 2, no. 1, pp. 14–19, 2010. View at Publisher · View at Google Scholar · View at Scopus
  31. L. Wang, H. L. McLeod, and R. M. Weinshilboum, “Genomics and drug response,” The New England Journal of Medicine, vol. 364, no. 12, pp. 1144–1153, 2011.
  32. M. N. Bainbridge, W. Wiszniewski, D. R. Murdock, J. Friedman, C. Gonzaga-Jauregui, I. Newsham, et al., “Whole-genome sequencing for optimized patient management,” Science Translational Medicine, vol. 3, no. 87, Article ID 87re3, 2011.
  33. J. S. Leeder, J. Lantos, and S. P. Spielberg, “Conference Scene: pediatric pharmacogenomics and personalized medicine,” Pharmacogenomics, vol. 11, no. 12, pp. 1691–1702, 2010. View at Publisher · View at Google Scholar · View at Scopus
  34. A. Clarke, “The genetic testing of children. Working Party of the Clinical Genetics Society (UK),” Journal of Medical Genetics, pp. 785–797, 1994.
  35. S. B. Haga, K. Kawamoto, R. Agans, and G. S. Ginsburg, “Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results,” Genetics in Medicine, vol. 13, no. 10, pp. 887–890, 2011.
  36. S. B. Haga and W. Burke, “Practical ethics: establishing a pathway to benefit for complex pharmacogenomic tests,” Clinical Pharmacology & Therapeutics, vol. 90, no. 1, pp. 25–27, 2011.
  37. H. C. Howard, Y. Joly, D. Avard, N. Laplante, M. Phillips, and J. C. Tardif, “Informed consent in the context of pharmacogenomic research: ethical considerations,” Pharmacogenomics Journal, vol. 11, no. 3, pp. 155–161, 2011. View at Publisher · View at Google Scholar · View at Scopus