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Genetics and Genomics

About Us

Genetics is the study of heredity by looking at one or multiple genes whereas genomics is the study of the complete set of genes as a whole, known as the genome. Mutations in genomic sequence can lead to health disorders and disease and also influence patient treatment response. More recent areas of study are epigenomics and pharmacogenomics, which are also encompassed within the genetics and genomics discipline. Epigenomics is the study of the regulation of the genome rather than changes within the genome and pharmacogenomics is the study of an individual’s response to pharmaceutical treatment based on his/her genomic sequence.

Genetics and Genomics Advisory Group

Genetics and genomics affects all aspects of human health, from inherited and de novo congenital disorders, to acquired disease such as cancer, to infectious disease caused by microorganisms. Established in 2018, the advisory group includes representative subject matter experts from all specialties.  The committee will support and guide the Agency’s Genetics and Genomics discipline team and PHSA in bringing the most efficient and effective laboratory diagnostic approach to achieve the best possible clinical outcomes for the province.

2019 Advisory Group Members

Dr. Jim Cupples, Vice President, Medical
Dr. David Huntsman, Medical Lead, Genetics and Genomics
Dr. Leah Prentice, Strategic Lead, Genetics and Genomics
Dr. Ceola McLynn, Project Manager, Genetics and Genomics
Dr. Alison Elliott
Dr. Mel Krajden
Dr. Tanya Nelson
Dr. Colin Ross
Dr. Stephen Yip

Best Practice Documents

SOURCE: Genetics and Genomics ( )
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