Insight into Variant IQ

Variant Investigation by Quest (Variant IQTM): Finding Color in a World of Gray Results

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 might 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. That’s why we’ve developed a team and a process for determining the significance of genetic variants.
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.

The Team: Variant IQTM and Athena InsightTM

Athena Insight™ (focuses on the neurology division) and Variant IQ™, are a team of highly specialized and rigorously trained scientists and genetic counselors, whose primary focus is to assess the pathogenicity of genetic variants identified in patients. We strive to provide the best service for our customers by staying up to date with relevant literature and diagnostic tools. We stay current with medical science by attending conferences, presenting research, and sustaining collaborations, such as participation in ClinGen Working Groups and partnerships with academia.

The Process

To assess the pathogenicity of genetic variants in patients, we conduct a thorough investigation of published research, which is then integrated with data from our internal dataset, external databases, research collaborations, and clinician-provided phenotypes. We then apply our rules-based, weighted process (published by our group in 2015) that is aligned with the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines to arrive at a final variant classification. If the variant remains of uncertain clinical significance (VUS), all available data regarding the variant is compiled and presented on our clinical reports. Click here for an ‘Athena Insight pathogenicity assessment’ example.   

The key to our success is our close collaboration among our scientists, genetic counselors and clinical laboratory directors which ensures all relevant variant information has been collected and systematically analyzed in order to provide the most clinically-informative result to our clients.

Additional Services Provided:

Variant Update Requests

To request an update of the classification of a variant, please use the form below.

Family Insight Program

Click here to learn about the Family Insight Program.

Physician Genetic Counseling

Click here to contact for our genetic counselors.