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 reliable, up-to-date and informative analysis.
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.
Variant IQ™ 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 stay current with medical science by, among other things, attending conferences, presenting research, and sustaining collaborations, such as participation in ClinGen Working Groups and partnerships with academia.
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 facilitates the collection and systemic analysis of relevant information in order to provide 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
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
Please use the form below if you would like to request a variant update.
