Genomics investment allows for new diagnostic tools
Vancouver, BC – Understanding hereditary cancer is life and death for Chiquita Hessels. In 2011, just ten months after her mother’s death from breast cancer, and one month after her maternal aunt’s passing from bowel and jaw cancer, Chiquita herself was diagnosed with breast cancer.
In January of this year Chiquita sought advice about whether there was a hereditary connection behind her family’s cancer history. Fortunately, with investment from Genome British Columbia (Genome BC) and the Provincial Health Services Authority (PHSA), the Lower Mainland Pathology and Laboratory Medicine’s Centre for Clinical Genomics has recently developed a new genetic panel test that looks for mutations in 14 of the more common genes that can cause cancer.
The use of a gene panel is a significant advancement in screening for a predisposition to cancer. Previously a pattern like the one found in Chiquita’s family could indicate a number of inherited conditions, meaning she would need to have a number of tests, one after another, to test for each possible inherited gene. This process previously took months and used many health care resources.
The new screening panel looks for mutations in all 14 genes at the same time so that final results are delivered faster. The outcome for Chiquita was a positive test for the gene causing Li Fraumeni Syndrome, a rare hereditary cancer disorder.
“For Chiquita, this means that we know what other cancers she is at risk of in the future, what screening tests would be best for her and what tests and cancer treatments she needs to avoid if they could be harmful to her,” says Dr. Gillian Mitchell, medical director of the Hereditary Cancer Program at the BC Cancer Agency. “Using a 14 gene panel rather than testing one gene at a time has really shortened the time needed to give Chiquita and her family the answers they need to look after their health, and the cost savings to the health care system by doing one rather than multiple gene tests means that we are able to offer genetic testing to more patients.”
This test result is just as important for Chiquita’s family’s health as it is for her own. Some blood relatives will have inherited the same gene mutation and some will not. Those with the mutation will be able to undertake effective cancer screening and prevention measures. Chiquita’s niece has been tested for the family-specific mutation using a targeted genetic test for that mutation alone, and her two young sons will also be tested this year.
“Chiquita’s story is one of courage and the work conducted in partnership with the BC Cancer Agency will hopefully provide her with a level of comfort in offering answers to the family’s health history as well as the proper course of treatment,” said Health Minister Terry Lake. “The Province provides funding to PHSA and Genome BC to support projects like hereditary cancer screening to help improve care and outcomes for British Columbians.”
The long-term objective of the project is to market the test Canada-wide. Savings to the health care system could be significant in terms of the cost per test, but also in terms of reduced numbers of appointments and the reduced time to get final test results for patients and their health care providers.
While the 14 gene panel test has been a great practical step for patients, it cannot detect all the types of mutations that can occur in these genes. Mutations called copy number alterations (CNA) may not be reliably detected with the 14 gene panel test and need another form of testing. With this new research project the Lower Mainland Pathology and Laboratory Medicine’s Centre for Clinical Genomics will develop and validate another test to detect CNA in all 14 genes simultaneously using a platform that is scalable and sustainable.
“Genomics is making a difference to the way we approach cancer diagnosis and treatment,” says Dr. Alan Winter, President and CEO of Genome BC. “The Hereditary Cancer Program at the BC Cancer Agency will be much enriched with this new test and all British Columbians will benefit.”
Hereditary cancers are thought to account for between five and 20 per cent of cancer diagnoses, with the proportion varying for different tumour types. With the successful implementation of the project to identify CNAs in 14 genes, the BC Cancer Agency will soon be routinely screening for all the genetic variants in the most common 14 genes predisposing to breast, ovarian and colorectal cancers.
The project, Application of DNA microarray technologies to clinical testing in hereditary cancer syndromes is valued at close to $400,000 and was funded through Genome BC’s User Partnership Program (UPP).
Lower Mainland Pathology and Laboratory Medicine, a service of the Provincial Health Services Authority (PHSA), is responsible for providing public laboratory services throughout the Lower Mainland of British Columbia. Hospital-based laboratories in Vancouver Coastal Health, Fraser Health, Providence Health Care and PHSA provide both inpatient and outpatient laboratory services. Our specialty laboratories, including the Cancer Genetics Lab, provide a variety of reference and specialized testing for the Province. www.lmlabs.phsa.ca
The BC Cancer Agency, an agency of the Provincial Health Services Authority, is committed to reducing the incidence of cancer, reducing the mortality from cancer, and improving the quality of life of those living with cancer. It provides a comprehensive cancer control program for the people of British Columbia by working with community partners to deliver a range of oncology services, including prevention, early detection, diagnosis and treatment, research, education, supportive care, rehabilitation and palliative care. www.bccancer.bc.ca.