Medical genomics: The intricate path from genetic variant identification to clinical interpretation

Publication date: 1 September 2014 Source:Applied & Translational Genomics, Volume 3, Issue 3 Author(s): B. Quintáns , A. Ordóñez-Ugalde , P. Cacheiro , A. Carracedo , M.J. Sobrido The field of medical genomics involves translating high throughput genetic methods to the clinic, in order to improve diagnostic efficiency and treatment decision making. Technical questions related to sample enrichment, sequencing methodologies and variant identification and calling algorithms, still need careful investigation in order to validate the analytical step of next generation sequencing techniques for clinical applications. However, the main foreseeable challenge will be interpreting the clinical significance of the variants observed in a given patient, as well as their significance for family members and for other patients. Every step in the variant interpretation process has limitations and difficulties, and its quote of contribution to false positive and false negative results. There is no single piece of evidence enough on its own to make firm conclusions on the pathogenicity and disease causality of a given variant. A plethora of automated analysis software tools is being developed that will enhance efficiency and accuracy. However a risk of misinterpretation could derive from biased biorepository content, facilitated by annotation of variant functional consequences using previous datasets stored in the same or linked repositories. In order to improve variant int...

Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research