Jean McGowan-Jordan

Investigator, CHEO Research Institute

Jean McGowan-Jordan is the Head of the regional Genetics Diagnostic Lab at CHEO and an Assistant Professor in the Department of Pathology and Laboratory Medicine at the University of Ottawa.  After completing fellowships in Molecular Genetics and Cytogenetics in Ottawa and Kingston, she was credentialed in both specialties through the Canadian College of Medical Geneticists (CCMG) in 2002.  She has been instrumental in the
transition of prenatal diagnosis of aneuploidies in Eastern Ontario to a more efficient molecular-based approach and has been heavily involved in the introduction of SNP microarray testing in the CHEO Genetics lab.

Jean is Laboratory Lead and Director of the CHEO Genetics Lab, working in close collaboration with medical and operations leadership. She has served as Chair of the CHEO/University of Ottawa CCMG Fellowship Committee, the Genetics Scientific Committee of the Quality Management Program
– Laboratory Services under the Ontario Medical Association, the CCMG Cytogenetics Committee and more recently the CCMG Genetic and Genomic
Diagnostic Working Group. Currently, Jean is Chair of the Standing Committee for the International System for Human Cytogenetic Nomenclature (ISCN); she was a co-editor of ISCN (2013), and lead editor of ISCN (2016).

Research Projects

  1. ALU transposition induces familial hypertrophic cardiomyopathy


    Our results demonstrate that haploinsufficiency resulting from MYBPC3 complete deletion, potentially mediated by Alu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM.

  2. Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories


    these data demonstrate that implementing FAF thresholds may considerably decrease the amount of variant interpretations and significantly reduce the cost of genetic testing for clinical genetic laboratories, without compromising the accuracy of genetic diagnostic services.

  3. Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting


    Our genetics diagnostic laboratory has been providing clinical diagnostic testing for ICs since 2012. We began by testing nine genes and expanded our panel by fivefold in 2015.

  4. Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines


    Ongoing variant reinterpretation is required to maintain the highest standards for delivering genetics laboratory services.