Children with rare, unexplained medical conditions may be able to obtain a diagnosis through the new ‘CAUSES’ research clinic at BC Children’s Hospital – ending a diagnostic odyssey for some families unable to get answers from standard tests.

CAUSES will see its first patient and family on June 4, 2015. Using ‘genome-wide sequencing’ (scanning all of a person’s 22,000 genes) the program will determine if the child’s symptoms are caused by one of the thousands of known genetic disorders. Over three years, 500 children and their parents will have their genomes sequenced through the program by researchers at the Child & Family Research Institute.

If a child is diagnosed with a genetic condition that has a known treatment, therapies can be started immediately. For some children, this will be transformational: the right treatment provided at the right time can help prevent medical complications and in some cases, save lives.

The research program Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES), is bringing advanced genetic technology to children with serious undiagnosed conditions in BC. It will also provide children and families with a clinical interpretation of their results, genetic counselling, and personalized recommendations for treatment.

Today, over 65 per cent of children admitted to BC Children’s Hospital do not know the cause of their illness. It is hoped that genome-wide sequencing will greatly increase the number of children who receive a diagnosis, identifying rare illnesses caused by genetic disorders. This sequencing technology is also being used in other studies at leading children’s hospitals throughout the world. The CAUSES research team will share their findings through their involvement in national and international networks.

By decreasing the number of invasive tests – such as biopsies, expensive biochemical tests, or MRI scans – needed to obtain a diagnosis, CAUSES aims to reduce costs for both families and the BC health care system.

Mining for Miracles, BC’s mining community’s longstanding fundraising campaign through BC Children’s Hospital Foundation, committed $3-million in 2015/16 towards the development of CAUSES. Genome British Columbia has pledged to match Mining for Miracles’ commitment up to an additional $1-million and CAUSES is seeking opportunities to leverage this partnership to secure additional funding. CAUSES is supported by the Provincial Health Services Authority and the University of British Columbia.

The CAUSES research clinic will:

 • Test at least 500 children and their parents by 2018 to identify disorders that would previously have gone undiagnosed.

• Provide genetic counselling, interpretation of complex test results, personalized treatment recommendations, and access to improved services for children who receive a diagnosis from genome-wide sequencing.

• Help reduce the number of invasive tests – such as biopsies, biochemical tests, expensive single gene tests, or MRI scans – needed to obtain a diagnosis for children. This is expected to reduce the average number of tests per child required for a diagnosis from 10 or more to one, resulting in significant savings for both families and the health-care system.

• Help prevent medical complications by identifying previously unsuspected treatable conditions for which treatment can be started immediately. Obtaining the right treatment earlier in some children will help prevent problems from getting worse and in some cases, save lives.

• Provide many opportunities for discovery and therapeutic research that will benefit patients at BC Children’s Hospital in partnership with the BC Children’s Hospital BioBank (also funded by Mining for Miracles) and other investigators at Child & Family Research Institute, throughout Canada, and around the world.

For more information about CAUSES, contact Dr. Alison Elliott, Project Lead at: or 604-875-2819.