Ranomics: Eliminating variants of unknown significance (VUS) in genetic testing

3^rd International Conference on Genomics & Pharmacogenomics

September 21-23, 2015 San Antonio, USA

Cathy Tie

Ranomics Inc., USA

Posters-Accepted Abstracts: J Mol Genet Med

Abstract :

In this evolving age of personalized health care, genetic testing companies are sequencing disease-associated genes in a fast and cost-effective fashion. This has given rise to multi-million dollar enterprises such as 23 and me, which specializes in determining disease-risk based on consumer DNA samples. However, the majority (>90%) of genetic variations that may increase disease-risk are rare and unique in nature and have not undergone rigorous scientific analysis, these variations are referred to as Variants of Unknown Significance (VUS). Paradoxically, this prevents personalized genetic testing companies from providing personalized insights into the health and disease risk of their consumers and additionally limits the number of diseases they can predict associated risks for. At Ranomics, we strive to overcome the barrier of VUS using high-throughput genetic techniques in model organisms. By exploiting our ability to test human gene function in the model organism Saccharomyces cerevisaie using gold-standard complementation techniques, we are systematically generating all possible genetic variations of conserved diseaseassociated genes and quantifying the functional implications of every genetic variation. The resulting database will be accessible to personalized genetic testing companies such that they can confidently reported on the functional implications and associated disease risk of the rare genetic variations identified in their consumers.

Biography :

Email: cathy@ranomics.com