2003, Number 4
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Rev Med Hosp Gen Mex 2003; 66 (4)
Genomic, medicine and society
Cervantes PA
Language: Spanish
References: 49
Page: 224-234
PDF size: 145.36 Kb.
ABSTRACT
The results of the Human Genome Project and the development of genomics will alter medicine and society. The knowledge of our genes and their variants will allow us to determine the causes of hereditary diseases, to develop molecular, prenatal and pre-symptomatic diagnostic methods and to design new therapy strategies. The most important contribution of genomics to medicine will be the identification of susceptibility genes for common conditions as diabetes, cancer, cardiovascular, neurological and psychiatric disorders and infectious diseases. In addition to predicting future risks of illness, genetic testing may also improve the likelihood of a good outcome from drug therapy. Genomic medicine requires that health professionals, patients and the public at large understand the concepts of genetic and the information necessary to make complex decisions that are relevant to reproductive issues, medical interventions and lifestyle. However, genetic data could represent a potential risk of discrimination that results in ethical issues, this implies that genetic screening must be validated and legally regulated.
REFERENCES
International Human Genome Sequencing Consortium. Lander ES, Linton LM, Birren B et al. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science 2001; 291: 1304-1351.
Green ED. The Human Genome Project and its impact on the study of human disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The metabolic and molecular basis of inherited disease. 8th ed. New York: Mc Graw Hill, 2001; 259-298..
McKusick VA, Ruddle FH. A new discipline, a new name, a new journal. Genomics 1987; 1: 1-2
Guttmacher AE, Collins FS. Genomic medicine – a primer. N Engl J Med 2002; 34: 1512-1520.
Collins FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA 2001; 286: 2322-2324.
Beaudet AL, Scriver CR, Sly WS, Valle D. Genetics, biochemistry and molecular bases of variant human phenotypes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The metabolic and molecular basis of inherited disease. 8th ed. New York: Mc Graw Hill, 2001; 3-45.
Chesney RW, Friedman A, Kanto WP, Stanton BF, Stull TL. Pediatric practice and education in the genomic/posgenomic era. J Pediatr 2002; 141: 453-458.
Subramanian G, Adams MD, Venter JC, Broder S. Implications of the human genome for understanding human biology and medicine. JAMA 2001; 286: 2296-2307.
Chakravarti A. Population genetics: making sense out of sequence. Nat Genet 1999; 21 (suppl 1): 56-60.
Mc Kusick VA. The anatomy of the human genome. A neo-vesalian basis for medicine in the 21st century. JAMA 2001; 286: 2289-2307.
Peltonen L, McKusick VA. Genomics and medicine. Science 2001; 291: 1224-1229.
Online Mendelian Inheritance in Man. http://www.ncbi.nlm. nih.gov/omim/
Human Genome Organization (HUGO): http//www.gene. ucl.ac.uk/hugo/
Goldstein JL, Hobbs HH, Brown MS. Familial hypercolesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw Hill, 2001; 2863-2913.
Alonso Vilatela ME. Enfermedad de Huntington. Series del Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. México: INNN, 2000; 136.
Johnson GCL, Todd JA. Strategies in complex dosage mapping. Curr Op Genet Develop 2000; 10: 330-334.
Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet 2000; 10: 715-720.
Peto J. Breast cancer susceptibility- A new look at an old model. Cancer Cell 2002; 411-412.
Peltomäki P. Deficient DNA mismatch repair: A common etiologic factor for colon cancer. Hum Mol Genet 2001; 10: 735-740.
Froguel P, Velho G. Molecular genetics of matury-onset diabetes of the young. Trends Endocrinol Metab 1999; 10: 142-146.
Mouradian MM. Recent advances in the genetics and pathogenesis of Parkinson disease. Neurology 2002; 58: 179-185.
Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet 2001; 10: 721-733.
Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S et al. Mutation cluster region, association between germline and somatic mutations and genotype phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am J Pathol 2002; 160: 2055-2061.
Major DA, Sane DC, Herrington DM. Cardiovascular implications of the factor V Leiden mutation. Am Heart J 2000; 140: 189-195.
Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M et al. Early onset autosomal dominant Alzheimer’s disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999; 65: 664-670.
HardyJ, Selkee DJ. The amyloid hypothesis of Alzheimer’s disease: Progress and problems on the road to therapeutics. Science 2002; 297: 353-356.
Roses AD. Alzheimer disease: A model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases. Am J Med Genet 1998; 81: 49-57.
Roses AD. Apolipoprotein E alleles as risk factors in Alzheimer’s disease. Annu Rev Med 1996; 47: 387-400.
Curtis LK, Boisvert WA. Apolipoprotein E and atherosclerosis. Curr Opin Lipidol 2000; 11: 243-251.
Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R et al. Genetic restriction of HIV-1 infection and progression of AIDS by a deletion allele of the CKR5 structural gene. Science 1996; 273: 1856-1862.
Carrington M, Dean M, Martin MP, O’Brien SJ. Genetics of HIV-1 infection: chemokine receptor CCR5 polimorphism and its consequences. Hum Mol Genet 1999; 8: 1939-1945.
Ramalay PA, French N, Kaleebur P, Gilks C, Whitworth J, Hill AVS. Chemokine-receptor genes and AIDS risk. Nature 2002; 417: 140.
Smith DJ, Lusis AJ. The allelic structure of common diseases. Hum Mol Genet 2002; 11: 2455-2461.
Pritchard JK, Cox NJ. The allelic architecture of human disease genes: Common disease-common variant... or not? Hum Mol Genet 2002; 11: 2417-2423.
Velazquez A, Vela Amieve M, Ciceron Arellano I, Ibarra Gonzalez I, Perez Andrade ME, Olivares Sandoval Z, Jiménez Sánchez G. Diagnosis of inborn errors of metabolism. Arch Med Res 2000; 31: 145-50.
Khoury MJ, McCabe LL, McCabe ERB. Population screening in the age of genomic medicine. New Engl J Med 2003; 348: 50-58.
Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001; 5: 201-211.
Margolin J. From comparative and functional genomics to practical decisions in the clinic: A view from trenches. Genome Res 2001;11: 923-925.
Chanock S, Wacholder S. One gene and one outcome? No way. Trends Mol Med 2002; 8: 266-269.
Weil J. Genetic counseling in the era of genomic medicine. EMBO Reports 2002; 3: 590-593.
Biesecker BB. Goals of genetic counseling. Clin Genet 2001; 60: 323-330.
Guttmacher AE, Jenkins J, Uhlmann WR. Genomic medicine: who will practice? A call to open arms. Am J Med Genet 2001; 106: 216-222.
Vizirianakis IS. Pharmaceutical education in the wake of genomic technologies for drug development and personalized medicine. Eur J Pharma Sci 2002; 15:243-250
Roses AD. Pharmacogenetics and the practice of medicine. Nature 2000; 857-865.
ten Have HA. Genetics and culture: the geneticization thesis. Med Health Care Philos 2001; 4: 295-304.
Mossialos E, Dixon A. Genetic testing and insurance: opportunities and challenges for society. Trend Mol Med 2001; 7: 323-324.
Human Genome Project. http://www.ornl.gov/hgmis/project/
Cantú JM, Figuera LE. Virtual molecular medicine in developing countries: The Mexican initiative. Mol Med Today 2000; 6: 190-192.