LA ATENCIÓN CLÍNICA DE LAS ENFERMEDADES RARAS: UN RETO PARA LA EDUCACIÓN MÉDICA
Palabras clave:
enfermedades raras, educación médica, Genética Médica, BioInfomática, Investigación en Medicina TraslacionalResumen
La comprensión de las enfermedades raras, ha permitido el desarrollo de esquemas de tratamiento y aplicación de biotecnología de punta que han sustentado el desarrollo de la Medicina traslacional, la cual apunta tanto a la comprensión de las enfermedades de baja prevalencia como a la aplicación de conocimientos de ciencias básicas para el diagnóstico y tratamiento de las enfermedades más comunes. El enfoque de las enfermedades raras le plantea a la Medicina, diversos retos conceptuales que deben ser afrontados por los currículos de las facultades. El presente artículo describe los desafíos que tiene la educación médica, frente a la enseñanza de las enfermedades raras, teniendo en cuenta que es un área de la Medicina que cobra mayor importancia en la atención clínica y que representa conceptos fundamentales de la asistencia sanitaria contemporánea, como la medicina traslacional y la medicina personalizada. Así mismo, se enfatiza que los adelantos diagnósticos y terapéuticos derivados del estudio de las enfermedades raras, influenciarán diversas áreas de la Medicina, señalando que, a pesar de la particularidad y baja prevalencia de estas enfermedades, su influencia va más allá del ejercicio efectivo del derecho a la salud por parte de un grupo de pacientes.
Biografía del autor/a
Fernando Suárez-Obando, Pontificia Universidad Javeriana
Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana. Servicio de Genética, Hospital Universitario San Ignacio.
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9. Bavisetty S, Grody WW, Yazdani S. Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement. Rare Dis. 2013;1:e23579.
10. Barrera LA, Galindo GC. Ethical aspects on rare diseases. Adv Exp Med Biol. 2010;686:493-511.
11. Gulbakan B, Ozgul RK, Yuzbasioglu A, Kohl M, Deigner HP, Ozguc M. Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine. EPMA J. 2016;7:24.
12. Litterman NK, Rhee M, Swinney DC, Ekins S. Collaboration for rare disease drug discovery research. F1000Res. 2014;3:261.
13. Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, et al. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Mol Genet Metab. 2016;119(3):187-206.
14. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18):1723-32.
15. Beck M. Treatment strategies for lysosomal storage disorders. Dev Med Child Neurol. 2018;60(1):13-8.
16. Fishman MC, Porter JA. Pharmaceuticals: a new grammar for drug discovery. Nature. 2005;437(7058):491-3.
17. Morales-Piga A, Garcia Ribes M, Arribas Alvaro P, Casado Alvaro C, Posada de La Paz M, Bachiller-Corral J. [Is there a place in primary care for rare diseases? The case of fibrodysplasia ossificans progressiva]. Aten Primaria. 2013;45(6):324-8.
18. Senior T, Knight A. Rare diseases: a role for primary care. Lancet. 2008;372(9642):890.
19. Pariser AR, Gahl WA. Important role of translational science in rare disease innovation, discovery, and drug development. J Gen Intern Med. 2014;29 Suppl 3:S804-7.
20. Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El ChERadER-Djebbar S, et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet. 2016;89(6):700-7.
21. Basel D, McCarrier J. Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis. Pediatr Clin North Am. 2017;64(1):265-72.
22. Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, et al. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016;91(3):297-307.
23. Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, et al. Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet Med. 2013;15(6):415-22.
24. Hawkes CP, Walsh A, O’Sullivan S, Crushell E. Doctors’ knowledge of the acute management of Inborn Errors of Metabolism. Acta Paediatr. 2011;100(3):461-3.
25. Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, et al. Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism. Mol Genet Metab. 2013;109(4):319-28.
26. Zand DJ, Brown KM, Lichter-Konecki U, Campbell JK, SalERi V, Chamberlain JM. Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism. Pediatrics. 2008;122(6):11915.
27. Camp KM, Lloyd-Puryear MA, Huntington KL. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol Genet Metab. 2012;107(1-2):3-9.
28. Leonard JV, Morris AA. Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta Paediatr. 2006;95(1):6-14.
29. Valayannopoulos V, Poll-The BT. Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases. Handb Clin Neurol. 2013;113:1553-62.
30. Grosse SD, Wordsworth S, Payne K. Economic methods for valuing the outcomes of genetic testing: beyond costeffectiveness analysis. Genet Med. 2008;10(9):648-54.
31. Lopez-Bastida J, Oliva-Moreno J. Cost of illness and economic evaluation in rare diseases. Adv Exp Med Biol. 2010;686:273-82.
32. Winter SC, Buist NR. Inborn errors of metabolism: medical and administrative “orphans”. Am J Manag Care. 1998;4(8):1164-8.
33. Novoa MC, Burnham TF. [Challenges for the universalization of clinical genetics: the Brazilian case]. Rev Panam Salud Publica. 2011;29(1):61-8.
34. Paez P, Suarez-Obando F, Zarante I. [Genetic diseases in pediatric patients hospitalised in the town of Ubate, Colombia]. Rev Salud Publica (Bogota). 2008;10(3):41422.
35. Rolfo C, Caglevic C, Bretel D, Hong D, Raez LE, Cardona AF, et al. Cancer clinical research in Latin America: current situation and opportunities. Expert opinion from the first ESMO workshop on clinical trials, Lima, 2015. ESMO Open. 2016;1(4):e000055.
36. de la Fuente J, Martuscelli J, Alarcón–Segovia D. El futuro de la investigación médica en México. Gac Méd Méx 2004;40(5):519-24.
37. Kalergis AM, Lacerda M, Rabinovich GA, Rosenstein Y. Challenges for Scientists in Latin America. Trends Mol Med. 2016;22(9):743-5.
38. Zúñiga J. La enseñanza de las ciecnias básicas en medicina desde la perspectiva de la justificación epistemológica del curriculo. Educación. 2009;33(2).
39. Bellgard MI, Sleeman MW, Guerrero FD, Fletcher S, Baynam G, Goldblatt J, et al. Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes. Health Policy and Technology. 2014;3(4):325-35.
40. Benitez-Paez A, Cardenas-Brito S. [Bioinformatics in Colombia: state of the art and perspectives]. Biomedica. 2010;30(2):170-7.
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Cómo citar
[1]
Suárez-Obando, F. 2018. LA ATENCIÓN CLÍNICA DE LAS ENFERMEDADES RARAS: UN RETO PARA LA EDUCACIÓN MÉDICA. Medicina. 40, 2 (jun. 2018), 228–241.
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2018-06-28
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