You hear them every day. The questions patients ask. What’s causing my symptoms? Why did this happen to me? What are the chances that I can pass this onto my children? The answers aren’t always clear. When it comes to a genetic diagnosis, you want the most reliable, up-to-date, understandable information.
We understand your challenge. We understand your quest for insight. When a variant of unknown significance (VUS) is found, we know that the interpretation is not always straight forward. That’s why we’ve developed Athena Insight™, a process for determining the significance of genetic variants.
Athena Insight™ is a team of highly trained scientists whose primary focus is to assess the pathogenicity of genetic variants identified in patients. To achieve this goal, we conduct a thorough investigation of published research which is then integrated with data from an internal dataset, external databases, research collaborations and clinician-provided phenotypes. A comprehensive and objective assessment of the data is made by utilizing a standardized, rules-based algorithm resulting in a final pathogenicity assessment score. Close collaboration among our scientists, genetic counselors and clinical laboratory directors ensures that all the relevant information has been collected and systematically analyzed in order to provide the most clinically-informative result to our clients.
We understand your goals, and we work with you. Our high-touch approach optimizes the value of modern science and human insight. We look for color in a world of gray results.