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Updated: Aug 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Genomic medicine. Myths and reality]
1Dirección de Investigación, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. rlisker@quetzal.innsz.mx
Abstract:
Genomic medicine is simply the routine use of genomic analysis, preferably by direct DNA studies, to improve the quality of medical care. A likely consequence will be to increase the predictive and prevention capacities of medicine, including common diseases, such as cancer, diabetes and others. The most common variability of the genome are the SNPs (single nucleotide polymorphisms), every person having between 3 and 10 million of them. SNPs may or not be harmless, and studies are in progress in cases and controls studies to answer the question of whether they determine why some persons have a given disease and others do not, and if they have something to do with that the individual variation in the response to drugs. We discuss in the same context the haplotype map project (HapMap) as a tool to facilitate the study of possible associations of genome changes and common diseases. We discuss the most successful effort in gene therapy, that of severe combined immunodeficiency, in which 17 out of 18 patients responded well to the procedure, although 2 of them developed late side effects in the form of acute leukemia, very likely related to the therapy. The ethical social and legal problems of genomic medicine are discussed very lightly and several references are given to readers interested in this matter.
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