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The BC Provincial Health Services Authority (PHSA), introduced a 3-year pilot program [the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Clinic], and provided clinical Exome Sequencing (ES) to 531 BC children and their families for the diagnosis of rare genetic diseases. Current laboratory tests provided by PHSA detect the genetic cause in only a small subset of children with suspected genetic disorders.  

In partnership with Dr. Friedman (UBC), the user project leader, Dr. Elliott (PHSA), developed, validated and implemented this program with support from BC Children’s Hospital Foundation. The CAUSES Clinic provided clinical assessment, genetic counselling, sequencing, bioinformatics and interpretation, and facilitated a customized care plan with the treating physician. 

ES identified the genetic cause in 52.5% of individuals with rare disease  in this study. Of these, 17 new genetic disorders were discovered and diagnosed. Families were provided with genomic consultations before and after testing. Consultation by telehealth was implemented across all 5 health authorities. An online tool named DECIDE was developed to assist in family genomic education and decision making. These activities illustrated the benefits of genetic counselling throughout the diagnostic odyssey. This project developed a diagnostic pipeline for children in BC with a suspected genetic disorder, which includes an interdisciplinary team of health care providers.