Elaine Lyon PhD, FACMG

Elaine Lyon, PhD, FACMG, became the director of the Clinical Services Laboratory at HudsonAlpha Institute for Biotechnology in 2018. Lyon has her PhD in Medical Genetics from the University of Alabama at Birmingham and is certified by the American Board of Medical Genetics in Clinical Molecular Genetics. Her degrees and accomplishments highlight a decades-long pursuit of excellence in the field, with an aim toward bringing the very best of genomics into the clinical setting.

Lyon served as a tenured professor in the Pathology Department at the University of Utah and a Medical Director at ARUP Laboratories. As a Medical Director of Molecular Genetics and Genomics at ARUP Laboratories, she oversaw molecular testing for inherited diseases. She and her team designed and validated laboratory assays for clinical use, including genomic sequencing assays. Her roles comprised test development, quality assurance and review of technical data, but much of her time was spent with the interpretation of molecular results in the context of clinical indications. Lyon has also overseen internal efforts to design and maintain databases for sequencing results, tracking classifications and combining results with clinical symptoms.

Lyon also participated in developing guidelines such as the CDC’s “Assuring Quality in Next Generation Sequencing”, the ACMG’s “Clinical Standards for Next Generation Sequencing”, and the ACMG/AMP/CAP “Interpretation of Sequence Variants”. She is part of national efforts to share sequence variants and evidences for classification with ClinVar, a database hosted by the National Center for Biotechnology Information. She was also involved with initial discussions with DIGITizE, an initiative from the Institutes of Medicine for Pharmacogenetics decision support. Her role was to evaluate how to structure and build genetic laboratory results facilitating transfer to the electronic health record.