Catherine Cottrell, PhD, FACMG (Project leader)

Nationwide Children's Hospital, The Ohio State University

Catherine Cottrell, PhD, FACMG, serves as a Senior Director of the Institute for Genomic Medicine (IGM) Clinical Laboratory at Nationwide Children’s Hospital. She is an Associate Professor - Clinical in the Departments of Pathology and Pediatrics at The Ohio State University College of Medicine. Dr. Cottrell is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Cytogenetics and Molecular Genetics having completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio in 2010. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, she ultimately served as the Director of the Cytogenetics and Molecular Pathology Laboratory, and as an Associate Professor in the Department of Pathology and Immunology, and Department of Genetics.

Dr. Cottrell specializes in the clinical interpretation of high-complexity genomic laboratory tests including next-generation sequencing, Sanger sequencing, chromosome analysis, FISH, and chromosomal and methylation microarrays. She is highly engaged in the development of new clinical diagnostic assays. She directs the Genomic Clinical Analysis Team within the IGM Clinical Laboratory, which is focused on germline and somatic variant interpretation, curation, and reporting activities. She is active in improvements in somatic variant classification having served on the AMP Variant Interpretation Testing Across Laboratories Somatic workgroup. Dr. Cottrell is an active member through the AMP of the Interpretation of Sequence Variation Somatic workgroup tasked with updating the AMP/ASCO/CAP guidelines.