Variant Investigation

Variant Investigation by Quest (Variant IQ^TM): 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 IQ^TM and Athena Insight^TM

Variant IQ^TM and Athena Insight™, Variant IQ’s Neurology Division, 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 use a 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. 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. 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. 

For details about our process, please refer to the following publications: http://onlinelibrary.wiley.com/doi/10.1002/humu.22918/abstract

https://www.acmg.net/docs/Standards_Guidelines_for_the_Interpretation_of_Sequence_Variants.pdf

Action and Education

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

To learn about the Family Insight Program and to contact our Genetic Counselors, please click here: http://www.questvantage.com/quest-insight-variant-classification-program

To learn more about our group’s research please refer to our publications and conference presentations:  https://education.questdiagnostics.com/publications. 
https://education.questdiagnostics.com/conference_presentations

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