Ivan Y Iourov*
Department of Medical Genetics, Russian Medical Academy of Postgraduate Education, Moscow
Received date: March 28, 2016; Accepted date: March 29, 2016; Published date: March 31, 2016
Citation: Iourov IY (2016) Post Genomics: towards a Personalized Approach to Chromosome Abnormalities. J Down Syndr Chr Abnorm 2:e104. doi:10.4172/2472-1115.1000e104
Copyright: © 2016 Iourov IY, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Regardless of organizational and attitudinal difficulties, the application of post genomic technologies in personalized medicine provides a solid basis for individual molecular diagnosis and therapy with potential therapeutic benefits for genetic counseling. Generally, these opportunities are found considerable for complex and singlegene diseases [1,2]. However, probably due to the multilateral impact of chromosome abnormalities in the genomic context, post genomic technologies have been rarely used to address chromosomal syndromes and related cases. On the other hand, high-resolution genome-wide analysis of chromosome abnormalities demonstrates the possibilities of empirical and bio informatic post genomic technologies to represent a basis for increasing the efficiency of the diagnosis and management [3-5]. Nevertheless, there is still no consensus on the way these developments can be used in genetic counseling.
Recently, a combination of molecular cytogenetic techniques with post genomic bio informatic analyses has been shown as an effective way to genotype-phenotype correlations, elucidating disease mechanisms, and potential development of personalized molecular therapy in patients with chromosome abnormalities [4,5]. Moreover, similar approaches to chromosome aberrations based on in silico epigenomic, interactomic and meta bolomic analyses of molecular cytogenetic data allow developing a therapeutic strategy through proposing the pathogenic mechanism . As a result, normalization of metabolic processes produced by chromosome abnormalities was proposed to be a way for treatments in at least a small proportion of cases of these presumably incurable genetic conditions.
Implementation of post genomics into clinical practice requires sophisticated roadmaps for organizational solutions despite convincible research data on appreciable success in personalized medicine obtained using poste genomic technologies . Furthermore, there are several types of genomic variations manifesting at chromosomal level (i.e chromosome abnormalities and instability, somatic mosaicism), which require additional research efforts to enhance corresponding post genomic approaches for the molecular diagnosis and correct clinical interpretation . Still, state-of-the-art poste genomic technologies for molecular cytogenetic analyses of chromosome abnormalities are able to shed light on disease mechanisms in chromosomal syndromes and cases of chromosome rearrangements for developing therapeutic strategies [3-7]. The potential of such emerging technologies increases, since new perspectives on treating at least a small proportion of chromosome abnormalities seem to exist. In conclusion, these achievements in post genomics clearly indicate that an important step forward towards a personalized approach to chromosome abnormalities has been made.
Author is supported by a grant from the Russian Science Foundation (project #14-15-00411).