October 09, 2024
Approximately 300,000 Canadians are at high risk for hereditary cancers, making it crucial to identify these genetic changes for timely and effective intervention.
What is Hereditary Cancer?
Hereditary cancers are caused by inherited gene mutations that increase the risk of certain cancers. Unlike sporadic cancers, which occur due to random mutations throughout a person’s life, hereditary cancers are passed from parents to their children. Common hereditary cancers include breast, ovarian, colorectal and prostate cancers. Early identification of these mutations can lead to preventive measures and personalized treatment plans, significantly improving outcomes for at-risk individuals.
Genome BC’s Innovations in Personalized Treatment for Hereditary Cancer
Genome BC has been at the forefront of advancing genetic testing and personalized treatment for hereditary cancer. One of the standout projects is the Parent-of-Origin-Aware Genomic Analysis.
Parent-of-Origin-Aware Genomic Analysis: A New Approach to Hereditary Cancer Risk
Determining whether a genetic mutation comes from the mother or the father can be crucial for understanding hereditary cancer risks. Traditional genetic testing often struggles with this, leading to inefficient and expensive follow-up tests. The Parent-of-Origin-Aware Genomic Analysis project aims to revolutionize this process.
This project focuses on developing a technology that can accurately identify the parent of origin of a genetic change using only the child’s blood sample. This innovation could make genetic testing 50% more efficient, saving time and money for families and the healthcare system. Preliminary data demonstrates that this technology offers 99% accurate prediction of the parent‐of‐origin, using only the blood sample of the child. If successful, BC Cancer could lead in this area, potentially extending this technology to other genetic diseases as well.
Enhancements in Testing and Diagnosis of Hereditary Cancer
Hereditary Cancer Program (HCP) at the BC Cancer Agency has also seen significant advancements thanks to Genome BC’s funding and support. Before 2016, the program could only test four genes at high resolution within their laboratory. For additional genes, samples had to be sent to laboratories outside of Canada, which was both logistically challenging and costly.
In 2015, with funding from Genome BC, Dr. Aly Karsan and his team at the BC Cancer Agency developed a methodology to simultaneously screen 17 genes associated with hereditary cancers. This new testing method marked a substantial improvement in the field:
- Increased Gene Testing: From 4 to 17 genes.
- Cost Reduction: Testing costs per patient decreased by 56%.
- Reduced Wait Times: Patient wait times dropped from 13 months to six weeks.
This advanced screening test became part of standard care in Canada in 2016 and was fully integrated into clinical practice in BC. The efficiency and effectiveness of this new method have made BC a leader in hereditary cancer testing, with other Canadian jurisdictions now seeking BC’s expertise to alleviate testing backlogs and expedite genetic testing nationwide.
Conclusion
Hereditary cancers present significant challenges, but advancements in genomic research and testing are paving the way for more efficient and personalized treatments. Genome BC’s initiatives, such as the Parent-of-Origin-Aware Genomic Analysis and the expansion of gene testing in the Hereditary Cancer Program, are critical steps forward in this fight. These innovations not only improve patient outcomes but also streamline processes within the healthcare system, making a substantial impact on public health.
Through continued research and collaboration, Genome BC is helping to shape a future where hereditary cancers are identified and managed more effectively, offering hope and improved quality of life for countless individuals and families.