Athena Diagnostics is dedicated to providing the very best diagnostic tools and services for our customers. Our primary objective is to provide test reports that are clinically significant. A key feature of that commitment is the Athena Insight Variant Investigation program.
Since its initial launch in 2010, Athena Insight investigations have grown to cover every gene test offered by Athena. In addition, the team continuously expands its investigations to include coverage for every newly launched gene test. To date, we have classified over 8,000 variants, including over 2,000 as likely benign or likely pathogenic. We draw on our enormous database to constantly refine our understanding of both new genes and old.
Variants of unknown significance (VUS) are those DNA sequence variants whose clinical impact is not entirely known. Such variant findings are often the rule, rather than the exception, in many forms of genetic testing. In the past, clinicians and patients were often without any tools to understand the potential significance of such a result. Athena Insight was developed to address this urgent clinical need for interpretation of VUS results.
The Athena Insight team accumulates and integrates data from scientific and medical literature, our own extensive database and bioinformatics experience, in silico predictive algorithms, and other scientific sources, to provide physicians key information that characterizes variants as benign, pathogenic or somewhere in between.
The Athena Insight result report includes a visual interpretive scale, detailed data on each VUS, and bulleted points of evidence summarizing the relevant information available. This analysis can save physicians time and provide them with enhanced test reports containing significant scientific data to help improve patient treatment and care. Although some variants remain unclassified due to limitations of available information, Athena’s mission is to provide details of the available data on each variant so clinicians can better assess the findings relative to the patient’s clinical presentation. These details are included in the Comments section of the report.
Athena Diagnostics strives to communicate genetic diagnostic guidance to physicians. The Variant Investigation Team remains steadfast in delivering precise and exhaustive investigation processes that have profound impact upon patient management. Athena’s Genetic Counselors and Laboratory Directors are accessible to help interpret test results and answer technical questions as they arise.