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Approximately 500,000 Canadian children are classified as having a rare disease. Rare diseases are often complex, life-threatening, or chronically debilitating and over 80% of rare diseases have a genetic origin. Before a firm causal diagnosis is established, children and families often go through a diagnostic odyssey that includes many hospital and clinic visits, tests and several misdiagnoses. The economic and social costs of childhood rare disease are significant and growing.

Next generation sequencing technologies, including whole exome/genome sequencing (WES/WGS), may enable more accurate disease diagnosis and treatment guidance for childhood rare diseases, but the translation of WES/WGS into the clinic has been limited. A key obstacle to WES/WGS implementation is the limited empirical evidence on whether these technologies can direct clinical management and improve patient outcomes.

Through this project, evidence was generated to support the use of new genomic tests for diagnosing children with suspected rare diseases as part of everyday care from the perspectives of two healthcare systems: British Columbia((BC) and the National Health Service (NHS) in England. Evidence included: (1) views from the general public on which outcomes of new genomic tests are valued and what trade-offs they might consider when deciding whether to access testing; (2) quantitative estimates of how much the general public values quality of life and genomic testing outcomes for childhood rare diseases; and (3) estimates of the costs and benefits of genomic testing for diagnosing childhood rare diseases as part of everyday care. This evidence can be used by healthcare systems to makes changes to routine clinical care for childhood rare diseases. The evidence will also help industry better tailor their genomic tests to the patients and families who might access them.