Abstract
Anticipatory guidance is the application of general guidelines for care of individuals with health conditions (e.g., asthma) once a diagnosis has been established. This activity is also applied to myriad genetic conditions such as Down syndrome, cystic fibrosis, and neurofibromatosis type 1. As an extension of this care, personalized medicine is a concept that holds great promise for the individualization of anticipatory guidance provided to a population within a diagnostic category. We are on the verge of applying the principles of personalized medicine to NF1. However, to fully implement such programs, we must integrate evidence-based medicine (outcomes research), biomarkers, and clinical decision support into comprehensive health-care plans.
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References
Balas E, Boren S (2000) Managing clinical knowledge for health care improvement. In: Bemmel J, McCray AT (eds) Yearbook of medical informatics 2000: patient-centered systems. Schattauer, Stuttgart, pp 65–70
Chabernauda C, Mennes M, Kardelb P, Gaillardc W, Kalbfleischd M, VanMeter J, Packer R, Milham M, Castellanos F, Acosta M (2012) Lovastatin regulates brain spontaneous low-frequency brain activity in neurofibromatosis type 1. Neurosci Lett 515:28–33
De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E (2003) Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 72:1288–1292
Ginsburg G, Willard H (2009) Genomic and personalized medicine: foundations and applications. Transl Res 154:277–287
KayesLM BW, Riccardi VM, Bennett R, Ehrlich P, Rubenstein A, Stephens K (1994) Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet 54:424–436
Krab L, Aarsen F, de Goede-Bolder A, Catsman-Berrevoets C, Arts W, Moll H, Elgersma Y (2008) Impact of neurofibromatosis type 1 on school performance. J Child Neurol 23:1002–1010
Mautner V-F, Asuagbor F, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann B, Friedman J (2008) Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol 10:593–598
Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H (2010) Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet 47:623–630
Osheroff J, Teich J, Middleton B, Steen E, Wright A, Detmer D (2007) A roadmap for national action on clinical decision support. J Am Med Inform Assoc 14:141–145
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D, Members of the NF France Network (2010) NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 31:E1506–E1518
Plotkin S, Bredella M, Cai W, Kassarjian A, Harris G, Esparza S, Merker V, Munn L, Muzikansky A, Askenazi M, Nguyen R, Wenzel R, Mautner V (2012) Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS One 7:e35711
Poon A, Hamid Q (2012) Personalized medicine for asthma: are we there yet? Ann Thorac Med 7:55–56
Rasmussen S, Yang Q, Friedman J (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 68:1110–1118
Rosenfeld A, Listernick R, Charrow J, Goldman S (2010) Neurofibromatosis type 1 and high-grade tumors of the central nervous system. Childs Nerv Syst 25:663–667
Sbidian E, Wolkenstein P, Valeyrie-Allanore L, Rodriguez D, Hadj-Rabia S, Ferkal S, Lacour J-P, Leonard J-C, Taillandier L, Sportich S, Berbis P, Bastuji-Garin S, Members of the NF France Network (2010) NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Derm 130:2173–2178
Sharif S, Moran A, Huson S, Iddenden R, Shenton A, Howard E, Evans D (2007) Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 44:481–484
Stevenson D, Viskochil D, Rope A, Carey J (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin Genet 69:246–253
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L (2007) An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970–2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80:140–151
Viskochil D (2010) Neurofibromatosis Type 1. In: Allanson J, Cassidy S (eds) Management of genetic syndromes. Wiley, New York
Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, Baralle D (2006) A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 95:233–238
Willard HF, Ginsburg GS (eds) (2009) Genomic and personalized medicine. vols. 1 and 2. Academic, Amsterdam
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Viskochil, D. (2012). Personalized Medicine in NF1. In: Upadhyaya, M., Cooper, D. (eds) Neurofibromatosis Type 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-32864-0_43
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