Journal of Pharmacogenomics & Pharmacoproteomics

NGS sounds really good. But, what kind of NGS-based test might be offered to my patient?

3^rd International Conference on Predictive, Preventive and Personalized Medicine & Molecular Diagnostics

September 01-03, 2015 Valencia, Spain

Javier Garcia-Planells

Instituto de Medicina Genomica, Spain

Posters-Accepted Abstracts: J Pharmacogenomics Pharmacoproteomics

Abstract:

NGS is being established as a new alternative for the diagnosis of genetic diseases in the clinical practice. The great advantages of this promising technology have been duly demonstrated in research. But some considerations need to be taken into account before being implemented as a clinical routine. NGS is a great technology, or better said, a set of technologies and different applications, but more important than the technology itself is the use that is made of it. We have developed different NGS based strategies for the analysis of genetic conditions. An accurate and highly sensitive approach based on a PCR specific design, which we have called NextGeneDx®. This approach was extensively validated to be used for diagnostic applications. An exome analysis focused only to the genes associated to clinical phenotypes according to OMIM (Clinical Exome). And a phenotype driven or Ad Hoc Exome focused to the genes associated to a specific condition or phenotype. Specific bioinformatics pipelines and interpretation algorithms were implemented for all these strategies. NGS technology enables to address the genetic diagnosis more efficiently, reducing costs and times. Depending on the clinical needs we can choose between two types of NGS strategies: High accuracy or high amount of data. NextGeneDx® is a highly accurate NGS strategy suitable for the diagnosis of genetically heterogeneous diseases. Highest diagnostic yield is obtained when a definite group of genes or genomic regions can be selected and analyzed through a precise clinical orientation.

Biography :

Email: javier.garcia@imegen.es