December 17, 2025
For families facing a rare disease, the hardest part is often not knowing. What’s causing their child’s symptoms? Will it get worse? Is there anything they can do? Thanks to more than a decade of Genome BC investment, those questions are finally getting answers.
Landmark initiatives, such as CAUSES, TIDEX, RapidOMICS and Silent Genomes, have helped position BC as a leader in rare disease genomics. Diagnostic rates have risen from under 10% to more than 50% and in some projects, over 60%.
In neonatal intensive care units, rapid sequencing now delivers results in just days, enabling life-saving interventions before symptoms fully appear. For other families, genomic testing has ended years-long diagnostic odysseys, connecting them to specialists, clinical trials and sometimes even treatments. These advances reflect close collaboration with BC Children’s Hospital, Indigenous governance leaders and care teams across BC’s health system.
New infrastructure now allows cutting-edge sequencing to be performed in BC, improving turnaround times and reinforcing data stewardship. And with a focus on equity, Indigenous-led projects are helping ensure no community is left behind. Rare diseases may be individually uncommon, but together they affect millions. With genomics, more families in BC are finding answers faster and closer to home.
This article appears in Genome BC’s 2024/25 Annual Report. View the whole report here.
