Dr Jarinova is a clinical molecular geneticist directly involved with patient care. In 2012, after completing Postdoctoral Fellowships at the Ottawa Heart Institute and CHEO, she obtained board certification in Molecular Genetics from the Canadian College of Medical Geneticists. Subsequently, she assumed the position of Associate Head of CHEO’s Molecular Genetics Diagnostic Laboratory and was promoted to the rank of Associate Professor at the University of Ottawa. Dr Jarinova is an active member of several international committees, including ClinGen, an international authoritative body that defines the clinical relevance of genes and variants for use in precision medicine. Dr Jarinova’s scientific expertise was sought out for a CHEO court challenge that aimed to serve the best interests of Canadians by breaking down legal barriers to making genetic testing accessible. Under her scientific leadership, CHEO has become the leading facility providing molecular diagnostic testing for thoracic aortic aneurysms and dissections and expanded cardiomyopathies. Dr Jarinova’s publication list includes first and senior author publications in top tier scientific journals including Genome Research, Development and Genetics in Medicine.
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.
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.
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.
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.