Two million Canadian children are classified as having a rare disease. As these children and their families navigate these complex, life-threatening, or chronically debilitating conditions, their stories are often similar — they spend years experiencing a diagnostic odyssey that includes many hospital and clinic visits, tests and several misdiagnoses before a firm diagnosis is established.
Over 80% of rare diseases are thought to have a genetic origin. And while next generation sequencing technologies, such as whole exome and whole genome sequencing, may enable more accurate disease diagnosis and treatment guidance for childhood rare diseases, these technologies are not routinely available in clinical care. There are outstanding questions as to whether these technologies are valued by patients, or an efficient use of healthcare resources, as well as understanding at what point they become cost-effective. Answering these questions helps inform the adoption of these tools as a standard of clinical care and potentially validates the impact that genomics has on the quality of life for patients.
Dr. Dean Regier, a scientist at BC Cancer, focuses his research on improving methods to understand how genes play a role in our personal lives and how patients and the general public value the trade-offs between the benefits and risks when making decisions to undergo genomic testing. He gathers evidence from patients for input into economic models, which evaluate whether these technologies provide value for money.
Over the next two years, a $500,000 project, funded through Genome BC’s Genesolve program and Illumina Inc., will draw upon health care data from BC as well as the 100,000 Genomes Project in the UK to generate evidence for the appropriate and sustainable adoption of whole exome and whole genome sequencing to diagnose and guide treatment for children with rare diseases. This work will be undertaken by Dr. Regier in collaboration with colleagues from the University of Oxford, the University of British Columbia and BC Children’s Hospital and BC Women’s Hospital + Health Centre.
“Genomics is already saving lives and improving health outcomes in many areas, including rare disease. However, the validation of these technologies as a cost-effective way to direct clinical management and improve patient outcomes is critical to optimizing the uptake of genomics into the healthcare system.”
— Dr. Catalina Lopez-Correa, Chief Scientific Officer and VP, Sectors, Genome British Columbia
“Genome wide sequencing improves the health and well-being of patients and families with rare diseases. What is needed in BC and around the world is robust, high quality evidence of the cost effectiveness of these tools as well as the value patients and families place on improved diagnoses. This evidence can aid decision makers in assessing value for money in context to the many competing demands on our scarce healthcare resources”
— Dr. Dean Regier, Scientist, BC Cancer and Assistant Professor, School of Population and Public Health, University of British Columbia
“In the past few years, we have seen strong evidence emerge in the peer-reviewed scientific literature demonstrating the clinical utility of genome sequencing in the care of patients with rare and undiagnosed genetic diseases. However, we recognize the importance of also evaluating the economic utility and cost effectiveness of new genomics applications. Illumina is committed to supporting development of economic evidence that healthcare systems need to make informed decisions for their communities. We are extremely pleased to be partnering with Genome BC and the Genesolve program to support these critical health economic studies.”
— Dr. Brock Schroeder, Director, Health Economic and Outcomes Research, Illumina
About Genome BC’s GeneSolve program
GeneSolve seeks to foster applied and translational research by connecting the producers of genomics driven technologies with its end-users or consumers in BC’s Health, Agrifood and Natural Resources sectors.
About Genome British Columbia:
Genome British Columbia invests in genomics innovation to address critical challenges in key economic sectors such as health, forestry, fisheries and aquaculture, agrifood, energy, mining and environment. In addition to scientific programming, Genome BC works to integrate genomics in to society by supporting responsible research and innovation and is committed to fostering an understanding and appreciation of the life sciences among educators, students and the public. genomebc.ca
About Illumina Inc.
At Illumina, our goal is to apply innovative technologies to the analysis of genetic variation and function, making studies possible that were not even imaginable just a few years ago. It is mission critical for us to deliver innovative, flexible, and scalable solutions to meet the needs of our customers. As a global company that places high value on collaborative interactions, rapid delivery of solutions, and providing the highest level of quality, we strive to meet this challenge. Illumina innovative sequencing and array technologies are fueling groundbreaking advancements in life science research, translational and consumer genomics, and molecular diagnostics.
About BC Cancer
BC Cancer, a program 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. For more information, visit www.bccancer.bc.ca or follow us on Twitter @BCCancer.