Ranomics changing the genetic testing industry with functional studies

April 18, 2016 – TORONTO. Ranomics, a Toronto based biotech startup with a mission to resolve Variants of Unknown Significance (VUS) in genetic testing results, today launches Ranomics Ring-Domain, a first-in-class database of functional studies including 2,000 variants of BRCA1, a commonly mutated gene in hereditary breast and ovarian cancers. About sixty percent of genetic tests for hereditary cancers contain an unknown variant, which means the significance is unknown until further study of the genotype and corresponding phenotype — a major issue in the genomics industry.

With a goal to determine the consequences of all variants in hereditary cancer genes before they are seen in patients, Ranomics is the first company to provide functional study results based on wet lab assays to genetic testing companies in order to classify VUS and all variants. Functional lab studies provide understanding of unique and rare genetic variants more accurately than predictive software algorithms and more efficiently than family-tree testing. Once Ranomics catalogues the functionality of each genetic variant in its experimental assays, it uses data from the organisms to demonstrate whether that particular variant is harmful for that particular gene.

To make functional studies readily available to clinical labs and genetic testing companies, Ranomics have compiled functional variant data for 2,000 BRCA1 variants, which is now available through its web application or third party API channels. Each dataset includes a variant report documenting a calculated functional score and suggested pathogenic/benign classification for the variant. The database is priced at $100 per variant on a pay-as-you-go plan with additional bulk-subscription options based on various lab sizes.

“Once health care providers are able to fully interpret their patients’ individual genetic variations, they will make more informed decisions to help the patients prevent hereditary diseases,” said Cathy Tie, CEO and Co-founder of Ranomics. “Our vision is to eliminate unclassified genetic variants in all genetic tests. We are very excited to accomplish this goal using functional studies because we believe testing genetic mutations in model organisms would be the closest model to understanding the genetic mutation in the human body.”

Veritas Genetics, a genetic testing company that offers affordable whole genome sequencing, is one of the first clinical laboratories to implement Ranomics’ functional data as part of their variant classification process. Interactive Biosoftware, a software company in France that focuses on genetic variant annotation, and SolveBio, a genomic intelligence platform in New York are also currently using Ranomics’ API system.

Source: Ranomics,