Last Updated : February 27, 2024
Molecular and genomic testing refers to medical tests that can detect individuals’ unique genetic and/or protein make up to inform treatment and care.
Molecular and genomic testing can be done for a variety of reasons including diagnostic testing, pre-symptomatic or predictive testing, newborn screening, and to inform treatment decisions. The testing is also increasingly being used for personalized medicine to provide cancer therapy based on a person’s individual genetic profile, leading to better clinical outcomes.
The emergence of whole genome sequencing (or more commonly, sequencing of protein-coding regions) will be disruptive and transformative to the Canadian health care landscape. Molecular and genomic testing has the potential to have a major impact on health care systems because the large amount of detailed patient data that would be collected and used to make precision medicine a routine part of health care in Canada.
This growth may be associated with an increased demand for genetic counselors and raise important considerations related to equitable access to testing, the implications of incidental findings, the cost-benefit impact of testing, and Canada’s technological and data privacy infrastructure for housing large amounts of genomic data.
Emerging examples of molecular and genomic testing include: