Desde la Genética Médica hacia la Medicina Genómica
DOI:
https://doi.org/10.37536/RIECS.2019.4.1.137Palabras clave:
Genética Médica, Consejo Genético, Asesoramiento Genético, Medicina Genómica, Medicina Personalizada, Medicina de PrecisiónResumen
En las dos primeras décadas del siglo 21 se ha producido una explosión del conocimiento y las tecnologías genéticas en el ámbito de la biomedicina. La consecuencia es un cambio radical de la comprensión de la enfermedad en cuanto a sus mecanismos moleculares y la aparición de nuevas estrategias para su tratamiento. Este impacto trasciende de los trastornos hereditarios clásicos, la mayoría de ellos individualmente raros, y afecta a toda la patología humana, incluidas las enfermedades con alta prevalencia en la población. Por ello, el conocimiento de los fundamentos de Genética ya no es una necesidad para una especialidad médica concreta, sino que es obligado para todas las profesiones sanitarias. En nuestro país existe una discordancia entre el excelente desarrollo tecnológico y científico en este campo y una traslación deficiente de sus avances a la práctica clínica. Es urgente poner los cimientos de la formación en Genética Médica para todos los profesionales de la salud. Sólo de esta manera será posible el desarrollo de la llamada Medicina Genómica en nuestro entorno, condición imprescindible para que sea una realidad el nuevo paradigma de la Medicina Personalizada o de Precisión.
Citas
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Feinberg AP. The Key Role of Epigenetics in Human Disease Prevention and Mitigation. N Engl J Med 2018; 378(14):1323-1334.
Dor Y, Cedar H. Principles of DNA methylation and their implications for biology and medicine. Lancet 2018; 392(10149):777-786.
Hombach S, Kretz M. Non-coding RNAs: Classification, Biology and Functioning. Adv Exp Med Biol 2016; 937:3-17. doi: 10.1007/978-3-319-42059-2_1.:3-17.
Kohler S, Carmody L, Vasilevsky N et al. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res 2019; 47(D1):D1018-D1027.
Forsberg LA, Gisselsson D, Dumanski JP. Mosaicism in health and disease - clones picking up speed. Nat Rev Genet 2017; 18(2):128-142.
The International HapMap Project. Nature 2003; 426(6968):789-796.
Auton A, Brooks LD, Durbin RM et al. A global reference for human genetic variation. Nature 2015; 526(7571):68-74.
Wain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and disease. Lancet 2009; 374(9686):340-350.
Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome. Nat Rev Genet 2015; 16(3):172-183.
Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 2015; 56(5):419-436.
McKusick VA. History of Medical Genetics. In: Rimoin DL, Connor JM, Pyeritz, R.E., Korf.B.R., editors. Principles and Practice of Medical Genetics. Philadelphia: Churchill Livingstone Elsevier, 2002: 3-32.
Harper PS. From Human to Medical Genetics. In: Harper PS, editor. A short history of Medical Genetics. New York: Oxford University Press, 2008: 271-312.
Harper PS. The Elements of Medical Genetics. In: Harper PS, editor. A short history of Medical Genetics. New York: Oxford University Press, 2008: 313-343.
Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2015; 17(9):e3.
Korf BR, Irons M, Watson MS. Competencies for the physician medical geneticist in the 21st century. Genet Med 2011; 13(11):911-912.
Kamien B. What is a clinical geneticist? Insights and an audit from first year training. Intern Med J 2010; 40(7):537-541.
Kristoffersson U, Macek M. From Mendel to Medical Genetics. Eur J Hum Genet 2017; 25(s2):S53-S59.
Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2015; 17(6):505-507.
Garcia Diaz JD, Mesa Latorre JM. [Usefulness of Clinical Genetics in medical practice]. Med Clin (Barc ) 2012; 138(12):525-527.
Taylor MR, Edwards JG, Ku L. Lost in transition: challenges in the expanding field of adult genetics. Am J Med Genet C Semin Med Genet 2006; 142C(4):294-303.
Wolyniak MJ, Bemis LT, Prunuske AJ. Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices. Adv Med Educ Pract 2015; 6:597-607. doi: 10.2147/AMEP.S73644. eCollection;%2015.:597-607.
Finkler K, Skrzynia C, Evans JP. The new genetics and its consequences for family, kinship, medicine and medical genetics. Soc Sci Med 2003; 57(3):403-412.
Taylor MR. A survey of chairpersons of departments of medicine about the current and future roles of clinical genetics in internal medicine. Genet Med 2003; 5(4):328-331.
Riegert-Johnson DL, Korf BR, Alford RL et al. Outline of a medical genetics curriculum for internal medicine residency training programs. Genet Med 2004; 6(6):543-547.
Sheffield L. Clinical genetics as a subspecialty of internal medicine. Intern Med J 2010; 40(7):474-475.
Korf BR. The medical genetics residency milestones. J Grad Med Educ 2014; 6(1 Suppl 1):87-90.
Harper PS. Genetic Counselling: an Introduction. In: Harper PS, editor. Practical Genetic Counselling. London: Edward Arnorld, 2010: 3-22.
Skirton H. More than an information service: are counselling skills needed by genetics professionals in the genomic era? Eur J Hum Genet 2018; 26(9):1239-1240.
Harper PS. The Genetic Counselling Clinic. In: Harper PS, editor. Practical Genetic Counselling. London: Edward Arnold, 2010: 150-164.
Abacan M, Alsubaie L, Barlow-Stewart K et al. The Global State of the Genetic Counseling Profession. Eur J Hum Genet 2019; 27(2):183-197.
Paneque M, Serra-Juhe C, Pestoff R et al. Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe. Eur J Hum Genet 2017; 25(8):918-923.
Manrai AK, Funke BH, Rehm HL et al. Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med 2016; 375(7):655-665.
Adams DR, Eng CM. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med 2018; 379(14):1353-1362.
Payne K, Gavan SP, Wright SJ, Thompson AJ. Cost-effectiveness analyses of genetic and genomic diagnostic tests. Nat Rev Genet 2018; 19(4):235-246.
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med 2014; %19;370(25):2418-2425.
Posey JE, Harel T, Liu P et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 2017; 376(1):21-31.
Strande NT, Brnich SE, Roman TS, Berg JS. Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. Genet Med 2018; 20(9):918-926.
Newson AJ, Leonard SJ, Hall A, Gaff CL. Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Med Genomics 2016; 9(1):57-0219.
Shkedi-Rafid S, Dheensa S, Crawford G, Fenwick A, Lucassen A. Defining and managing incidental findings in genetic and genomic practice. J Med Genet 2014; 51(11):715-723.
Claustres M, Kozich V, Dequeker E et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet 2014; 22(2):160-170.
Guttmacher AE, Collins FS, Carmona RH. The family history--more important than ever. N Engl J Med 2004; 351(22):2333-2336.
Burke W. Taking family history seriously. Ann Intern Med 2005; 143(5):388-389.
Clarke AJ. Musings on genome medicine: the value of family history. Genome Med 2009; 1(8):75.
Pyeritz RE. The family history: the first genetic test, and still useful after all those years? Genet Med 2012; 14(1):3-9.
McGrath BB, Edwards KL. When family means more (or less) than genetics: the intersection of culture, family and genomics. J Transcult Nurs 2009; 20(3):270-277.
Costain G, Bassett AS. Incomplete knowledge of the clinical context as a barrier to interpreting incidental genetic research findings. Am J Bioeth 2013; 13(2):58-60.
Offit K, Groeger E, Turner S, Wadsworth EA, Weiser MA. The "duty to warn" a patient's family members about hereditary disease risks. JAMA 2004; 292(12):1469-1473.
Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008; 17(5):424-433.
Hickey KT, Katapodi MC, Coleman B, Reuter-Rice K, Starkweather AR. Improving Utilization of the Family History in the Electronic Health Record. J Nurs Scholarsh 2017; 49(1):80-86.
Becker F, van El CG, Ibarreta D et al. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet 2011; 19 Suppl 1:S6-44. doi: 10.1038/ejhg.2010.249.:S6-44.
Guttmacher AE, Jenkins J, Uhlmann WR. Genomic medicine: who will practice it? A call to open arms. Am J Med Genet 2001; 106(3):216-222.
Feero WG, Guttmacher AE, Collins FS. Genomic medicine--an updated primer. N Engl J Med 2010; 362(21):2001-2011.
Haendel MA, Chute CG, Robinson PN. Classification, Ontology, and Precision Medicine. N Engl J Med 2018; 379(15):1452-1462.
Chowkwanyun M, Bayer R, Galea S. "Precision" Public Health - Between Novelty and Hype. N Engl J Med 2018; 379(15):1398-1400.
Roberts J, Middleton A. Genetics in the 21st Century: Implications for patients, consumers and citizens. F1000Res 2017; 6:2020. doi: 10.12688/f1000research.12850.2. eCollection;%2017.:2020.
Korf BR, Berry AB, Limson M et al. Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics. Genet Med 2014; 16(11):804-809.
Phillips TJ, Belknap JK, Hitzemann RJ, Buck KJ, Cunningham CL, Crabbe JC. Internet resources for genomic, bioinformatics, and medical genetics information. Curr Protoc Neurosci 2003; Appendix 5:Appendix 5A. doi: 10.1002/0471142301.nsa05as22.:Appendix.
Uhlmann WR, Guttmacher AE. Key Internet genetics resources for the clinician. JAMA 2008; 299(11):1356-1358.
Waggoner DJ. Internet resources in medical genetics. Curr Protoc Hum Genet 2014; 80:Unit 9.12.. doi: 10.1002/0471142905.hg0912s80.:Unit.
Feinberg AP. The Key Role of Epigenetics in Human Disease Prevention and Mitigation. N Engl J Med 2018; 378(14):1323-1334.
Dor Y, Cedar H. Principles of DNA methylation and their implications for biology and medicine. Lancet 2018; 392(10149):777-786.
Hombach S, Kretz M. Non-coding RNAs: Classification, Biology and Functioning. Adv Exp Med Biol 2016; 937:3-17. doi: 10.1007/978-3-319-42059-2_1.:3-17.
Kohler S, Carmody L, Vasilevsky N et al. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res 2019; 47(D1):D1018-D1027.
Forsberg LA, Gisselsson D, Dumanski JP. Mosaicism in health and disease - clones picking up speed. Nat Rev Genet 2017; 18(2):128-142.
The International HapMap Project. Nature 2003; 426(6968):789-796.
Auton A, Brooks LD, Durbin RM et al. A global reference for human genetic variation. Nature 2015; 526(7571):68-74.
Wain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and disease. Lancet 2009; 374(9686):340-350.
Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome. Nat Rev Genet 2015; 16(3):172-183.
Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 2015; 56(5):419-436.
McKusick VA. History of Medical Genetics. In: Rimoin DL, Connor JM, Pyeritz, R.E., Korf.B.R., editors. Principles and Practice of Medical Genetics. Philadelphia: Churchill Livingstone Elsevier, 2002: 3-32.
Harper PS. From Human to Medical Genetics. In: Harper PS, editor. A short history of Medical Genetics. New York: Oxford University Press, 2008: 271-312.
Harper PS. The Elements of Medical Genetics. In: Harper PS, editor. A short history of Medical Genetics. New York: Oxford University Press, 2008: 313-343.
Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2015; 17(9):e3.
Korf BR, Irons M, Watson MS. Competencies for the physician medical geneticist in the 21st century. Genet Med 2011; 13(11):911-912.
Kamien B. What is a clinical geneticist? Insights and an audit from first year training. Intern Med J 2010; 40(7):537-541.
Kristoffersson U, Macek M. From Mendel to Medical Genetics. Eur J Hum Genet 2017; 25(s2):S53-S59.
Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2015; 17(6):505-507.
Garcia Diaz JD, Mesa Latorre JM. [Usefulness of Clinical Genetics in medical practice]. Med Clin (Barc ) 2012; 138(12):525-527.
Taylor MR, Edwards JG, Ku L. Lost in transition: challenges in the expanding field of adult genetics. Am J Med Genet C Semin Med Genet 2006; 142C(4):294-303.
Wolyniak MJ, Bemis LT, Prunuske AJ. Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices. Adv Med Educ Pract 2015; 6:597-607. doi: 10.2147/AMEP.S73644. eCollection;%2015.:597-607.
Finkler K, Skrzynia C, Evans JP. The new genetics and its consequences for family, kinship, medicine and medical genetics. Soc Sci Med 2003; 57(3):403-412.
Taylor MR. A survey of chairpersons of departments of medicine about the current and future roles of clinical genetics in internal medicine. Genet Med 2003; 5(4):328-331.
Riegert-Johnson DL, Korf BR, Alford RL et al. Outline of a medical genetics curriculum for internal medicine residency training programs. Genet Med 2004; 6(6):543-547.
Sheffield L. Clinical genetics as a subspecialty of internal medicine. Intern Med J 2010; 40(7):474-475.
Korf BR. The medical genetics residency milestones. J Grad Med Educ 2014; 6(1 Suppl 1):87-90.
Harper PS. Genetic Counselling: an Introduction. In: Harper PS, editor. Practical Genetic Counselling. London: Edward Arnorld, 2010: 3-22.
Skirton H. More than an information service: are counselling skills needed by genetics professionals in the genomic era? Eur J Hum Genet 2018; 26(9):1239-1240.
Harper PS. The Genetic Counselling Clinic. In: Harper PS, editor. Practical Genetic Counselling. London: Edward Arnold, 2010: 150-164.
Abacan M, Alsubaie L, Barlow-Stewart K et al. The Global State of the Genetic Counseling Profession. Eur J Hum Genet 2019; 27(2):183-197.
Paneque M, Serra-Juhe C, Pestoff R et al. Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe. Eur J Hum Genet 2017; 25(8):918-923.
Manrai AK, Funke BH, Rehm HL et al. Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med 2016; 375(7):655-665.
Adams DR, Eng CM. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders. N Engl J Med 2018; 379(14):1353-1362.
Payne K, Gavan SP, Wright SJ, Thompson AJ. Cost-effectiveness analyses of genetic and genomic diagnostic tests. Nat Rev Genet 2018; 19(4):235-246.
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med 2014; %19;370(25):2418-2425.
Posey JE, Harel T, Liu P et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 2017; 376(1):21-31.
Strande NT, Brnich SE, Roman TS, Berg JS. Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. Genet Med 2018; 20(9):918-926.
Newson AJ, Leonard SJ, Hall A, Gaff CL. Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Med Genomics 2016; 9(1):57-0219.
Shkedi-Rafid S, Dheensa S, Crawford G, Fenwick A, Lucassen A. Defining and managing incidental findings in genetic and genomic practice. J Med Genet 2014; 51(11):715-723.
Claustres M, Kozich V, Dequeker E et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet 2014; 22(2):160-170.
Guttmacher AE, Collins FS, Carmona RH. The family history--more important than ever. N Engl J Med 2004; 351(22):2333-2336.
Burke W. Taking family history seriously. Ann Intern Med 2005; 143(5):388-389.
Clarke AJ. Musings on genome medicine: the value of family history. Genome Med 2009; 1(8):75.
Pyeritz RE. The family history: the first genetic test, and still useful after all those years? Genet Med 2012; 14(1):3-9.
McGrath BB, Edwards KL. When family means more (or less) than genetics: the intersection of culture, family and genomics. J Transcult Nurs 2009; 20(3):270-277.
Costain G, Bassett AS. Incomplete knowledge of the clinical context as a barrier to interpreting incidental genetic research findings. Am J Bioeth 2013; 13(2):58-60.
Offit K, Groeger E, Turner S, Wadsworth EA, Weiser MA. The "duty to warn" a patient's family members about hereditary disease risks. JAMA 2004; 292(12):1469-1473.
Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008; 17(5):424-433.
Hickey KT, Katapodi MC, Coleman B, Reuter-Rice K, Starkweather AR. Improving Utilization of the Family History in the Electronic Health Record. J Nurs Scholarsh 2017; 49(1):80-86.
Becker F, van El CG, Ibarreta D et al. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet 2011; 19 Suppl 1:S6-44. doi: 10.1038/ejhg.2010.249.:S6-44.
Guttmacher AE, Jenkins J, Uhlmann WR. Genomic medicine: who will practice it? A call to open arms. Am J Med Genet 2001; 106(3):216-222.
Feero WG, Guttmacher AE, Collins FS. Genomic medicine--an updated primer. N Engl J Med 2010; 362(21):2001-2011.
Haendel MA, Chute CG, Robinson PN. Classification, Ontology, and Precision Medicine. N Engl J Med 2018; 379(15):1452-1462.
Chowkwanyun M, Bayer R, Galea S. "Precision" Public Health - Between Novelty and Hype. N Engl J Med 2018; 379(15):1398-1400.
Roberts J, Middleton A. Genetics in the 21st Century: Implications for patients, consumers and citizens. F1000Res 2017; 6:2020. doi: 10.12688/f1000research.12850.2. eCollection;%2017.:2020.
Korf BR, Berry AB, Limson M et al. Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics. Genet Med 2014; 16(11):804-809.
Phillips TJ, Belknap JK, Hitzemann RJ, Buck KJ, Cunningham CL, Crabbe JC. Internet resources for genomic, bioinformatics, and medical genetics information. Curr Protoc Neurosci 2003; Appendix 5:Appendix 5A. doi: 10.1002/0471142301.nsa05as22.:Appendix.
Uhlmann WR, Guttmacher AE. Key Internet genetics resources for the clinician. JAMA 2008; 299(11):1356-1358.
Waggoner DJ. Internet resources in medical genetics. Curr Protoc Hum Genet 2014; 80:Unit 9.12.. doi: 10.1002/0471142905.hg0912s80.:Unit.
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31-05-2019
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Artículos de Revisión
