Personalized Medicine. Medical opportunities and challenges in the massive sequencing era

Leandro Sastre, Elena G. Árias-Salgado, Leandro Sastre

Abstract


DNA sequencing capacity has increased tremendously in the last ten years due to the development of massive sequencing techniques, also known as Next Generation Sequencing. A large amount of information on the sequence of the human genome, its organization, transcription and regulation of gene expression has been generated form healthy individuals and also from patients suffering a broad group of diseases. The technical capacity to determine the sequence of patients’ DNAs at decreasing cost and the knowledge already generated is making possible a precise molecular diagnosis for many diseases in clinical settings. Determining the molecular basis of the disease for each particular patient has important implications in diagnosis, prognosis, genetic counselling and for the determination of an optimal treatment, moving towards a personalized medicine. In this review the available sequencing platforms will be briefly analyzed. DNA sequencing for clinical practice can be extended to different levels and the advantages and disadvantages of Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), RNA sequencing, Targeted Panel Sequencing and Mehylated DNA Sequencing will be discussed. The application of these technologies to Monogenic, Multigenic diseases and Cancer will be reviewed. Finally, the clinical implementation of massive parallel sequencing technologies and the present challenges will be discussed.

Keywords


massive sequencing; molecular genetics; exome; genome; personalized medicine

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References


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DOI: http://dx.doi.org/10.18103/imr.v3i7.525

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