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Gene Classification
Our approach to determining gene-disease validity—critical to offering reliable results that inform patient care.
Leadership in Gene-Disease Validity
Ambry invests in the expertise needed for ongoing evaluation of new and existing gene-disease associations to drive better variant classification, smart product design, and unique service offerings.
Dedicated Experts
With over 100 years of combined experience in the field of Medical Genetics, the Ambry Genetics Gene Team is a dedicated group of scientists committed to enhancing patient care and treatment outcomes through precise genetic insights.
Evidence Evaluation
Our unique gene-disease validity assessment framework for a clinical laboratory is the only one published in peer-reviewed medical literature. We use it to methodically evaluate available and evolving genetic and experimental evidence. This sets us apart, ensures accuracy and reliability, and enhances our ability to offer an accurate diagnosis and help guide a patient’s medical management.
Literature Surveillance
As pioneers in gene curation, we prioritize evaluating the latest scientific literature to better understand human disease. This rigorous approach allows us to deliver the most pertinent genetic insights to healthcare providers so patients can benefit. By doing so, we aim offer timely, precise, and actionable genetic information that can make a difference to diagnosis, treatment, and overall medical management.
Gene Classification in Hereditary Cancer Testing
Setting the Standard: Our Published Gene Validity Scheme
Videos
Smith et al. “Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.” Human Mutation (2017).
doi: 10.1002/humu.23183
Video produced by researchsquare.com
Educational Webinars
Peer-Reviewed Publications
- Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK2, Tang S, Farwell Hagman KD. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutation. 2017 Jan 20
- Kelly D. Farwell Hagman MS, CGC,Deepali N. Shinde PhD, Cameron Mroske MS, Erica Smith PhD, Kelly Radtke PhD, Layla Shahmirzadi MS, CGC, Dima El-Khechen MS, CGC, Zöe Powis MS, CGC, Elizabeth C. Chao MD, FACMG, Wendy A. Alcaraz PhD, DABMG, Katherine L. Helbig MS, CGC, Samin A. Sajan PhD, Mari Rossi MS, PhL, Hsiao-Mei Lu PhD, Robert Huether PhD, Shuwei Li PhD, Sitao Wu PhD, Mark E. Nuñes MD & Sha Tang PhD, FACMG. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in Medicine, 2016.