September 26, 2012
Provincial Health Services Authority
Genome British Columbia
BC Cancer Agency
Ministry of Health
Vancouver – Cancer patients waiting to find out if they have inherited mutations in two major breast cancer genes will soon get their results much faster, thanks to new genomics-based screening technology in BC.
The Centre for Clinical Diagnostic Genomics (CDG) at the Provincial Health Services Authority (PHSA), in partnership with the PHSA Cancer Genetics Laboratory, is the first clinical laboratory in Canada to use a revolutionary “NextGen” DNA sequencing process for routine clinical testing of the BRCA1 and BRCA2 breast cancer genes. By using NextGen sequencing technologies, the CDG will dramatically speed up the testing process and analysis of results for these mutations and anticipates testing time to decrease from the current six months to two months.
The new technology helps deliver results faster, which means therapy decisions are made more quickly. If a woman inherits a mutation in either of the BRCA1 or BRCA2 gene, her lifetime risk to develop both breast and ovarian cancer is greatly increased. The sooner women (and a small portion of men) know they have the mutation, the sooner they and close family members who may also have inherited the same abnormality can take preventative action.
Patients who are eligible for this test must have had breast or ovarian cancer themselves and be referred by a doctor to the BC Cancer Agency’s Hereditary Cancer Program for genetic counselling. Because fewer than 10% of breast and ovarian cancers are hereditary, BRCA1 and BRCA2 genetic testing is available only when specific criteria are met.
DNA sequencing is the process of “reading” the information in a DNA molecule. Knowledge gained from this process is being used increasingly in many aspects of disease diagnosis and management. NextGen sequencing technologies are the most advanced DNA sequencing method and deliver inexpensive and accurate genome information needed for testing for genetic disease, such as breast cancer.
Genome BC and PHSA provided $400,000 in funding through Genome BC’s Strategic Opportunities Fund program. This program provides one-time funding to start or move forward new genomics-based projects and initiatives of strategic importance to BC’s life science sectors. The extensive capacity of NextGen sequencing allows testing of up to four times the current volume of samples in a highly efficient and cost-effective manner. Incorporating this new technology into the clinic is the key to delivering centralized genomic testing services in a fiscally sustainable manner. The cost of this sequencing is 15-20% less than standard processing and is expected to drop significantly more in the next few years.
An additional benefit of the work done by the CDG is the potential for growth of the service. With the capacity of the CDG for inherited cancer testing being four times that of current provincial demand within BC, the province is well-poised to expand services across Canada and provide testing for other provinces to become a national centre for inherited cancer sequencing. The CDG will continue to expand its services to include new tests for both cancer and other chronic diseases.
Dr. Margaret MacDiarmid, BC Health Minister – “This is a significant step towards improving cancer care in BC and potentially across Canada. The Centre for Clinical Diagnostic Genomics will transform patient care-related diagnostic sequencing services, which means a better experience for patients. It is also rewarding to know that we may have a positive impact on cancer patients across Canada.”
Wynne Powell, Board Chair, Provincial Health Service Authority – “British Columbia is well known for being a leader in delivering the highest quality health care. Our goal is to ensure that everyone in the province has equal and timely access to specializedservices and a consistent standard of care.”
Dr. Aly Karsan, Medical Director, Centre for Clinical Diagnostic Genomics – “The establishment of a clinically accredited next-generation sequencing pipeline is a key milestone for the CDG in developing the capacity to deliver genomic testing for BC patients and potentially to other jurisdictions. This type of capacity is paramount in order to achieve the goalsof personalized medicine.”
Dr. Alan Winter, President & CEO, Genome BC – “Genome BC is proud to be playing an integral role in a project which truly illustrates the translation of genomics-based research with clinical uptake resulting in better patient care. This type of partnership with a service provider such as the PHSA is a step towards our goal of creating social and economic benefits for British Columbians.”
People who are eligible for this test must have had breast or ovarian cancer themselves and be referred by a doctor to the BC Cancer Agency’s Hereditary Cancer Program for genetic counselling. Because fewer than 10% of breast and ovarian cancers are hereditary, BRCA1 and BRCA2 genetic testing is available only when specific criteria are met. These include:
- a woman who was diagnosed with:
- breast cancer at age 35 or younger
- two separate breast cancers, at least one of which was at age 50 or younger high-grade serous ovarian cancer at any age
- breast cancer at age 50 or younger AND has a close relative who also had breast cancer at age 50 or younger
- breast cancer at any age AND has a close relative who had high-grade serous ovarian cancer
- breast cancer at any age AND has two or more close relatives who also had breast cancer, one or more of whom were diagnosed at age 50 or younger
- a man who was diagnosed with breast cancer and has one or more close relatives with breast or ovarian cancer
If you think you might be eligible for this test, please discuss your interest in a genetic counselling referral with your doctor.
About the Centre for Clinical Diagnostic Genomics:
The Centre for Clinical Diagnostic Genomics (CDG) is part of Lower Mainland Pathology and Laboratory Medicine Services, a department of the Provincial Health Services Authority (PHSA). The CDG is a partnership between Canada’s Michael Smith Genome Sciences Centre and the Cancer Genetics Laboratory (both located at the BC Cancer Agency) and works with its partners to ensure timely and accurate delivery of clinically-actionable information required to ensure excellent patient care.
In July 2010, Genome BC and PHSA each provided $200,000 in funding for a project entitled “Rapid evolution of a clinical high throughput DNA sequencing pipeline to next-generation sequencing”, which had the primary goal of validating a NextGen sequencing-based test to replace traditional testing for inherited forms of breast and ovarian cancer. The project was successful, and effective July 25, 2012, NextGen sequencing replaced the traditionaltechnologies. Patient care will improve with more rapid turnaround times. Reduced costs will allow further development of this platform for clinical genetic testing.
About Provincial Health Services Authority:
The Provincial Health Services Authority (PHSA) plans, manages and evaluates selected specialty and province-wide health care services across BC, working with the five geographic health authorities to deliver province-wide solutions that improve the health of British Columbians. For more information, visit www.phsa.ca.
About the BC Cancer Agency:
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 qualityof 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. For more information, visit www.bccancer.ca.