Genomics-driven health care for children with rare diseases

Issue: BCMJ, vol. 61, No. 6, July August 2019, Page 248 News

Two million Canadian children are classified as having a rare disease, and over 80% of rare diseases are thought to have a genetic origin. 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 about these technologies: Are they valued by patients? Are they an efficient use of health care resources? At what point do 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 lives and how patients and the general public value the trade-offs of benefits versus 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 2 years, a $500 000 project (funded through Genome BC’s Genesolve program and Illumina Inc.) will draw on 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. The work will be undertaken by Dr Regier in collaboration with colleagues from the University of Oxford, the University of British Columbia, BC Children’s Hospital, and BC Women’s Hospital and Health Centre. For more information about Genome BC visit

. Genomics-driven health care for children with rare diseases. BCMJ, Vol. 61, No. 6, July, August, 2019, Page(s) 248 - News.

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