Rare childhood disease diagnosis clues a comfort to families

Some Canadian children with rare genetic disorders have benefited from new treatments thanks to a countrywide research project that harnesses technological advances.

The two-year study was called Finding of Rare Disease Genes in Canada or FORGE. An estimated 75 per cent of rare diseases affect children, with an enormous effect on a family’s well-being.

A total of 264 rare undiagnosed disorders were selected for the study representing more than 1,000 Canadian samples and another 300 international ones. Researchers succeeded in solving 146 disorders or 55 per cent.

The success rate is unheard of for rare diseases and triple the original goal, said Kym Boycott, a clinician investigator with the Children’s Hospital of Eastern Ontario in Ottawa.

"The excitement from the families and the uptake by the families was incredible," Boycott said Friday.  

"They’ve gained understanding. About five per cent of the families that we studied, we were able to quite dramatically change the treatment that was being offered to the children."

The families also gained insight into what may happen in the future for their child’s health with a diagnosis in hand, which Boycott said is comforting for families. The team was also able to offer an explanation of what the chances were of it happening again in their family.

More precisely targeted treatments

In other instances, the clearer diagnosis allowed doctors to tailor treatment, such as selecting a different anticonvulsant targeted to a specific receptor involved in seizures.

Some families also gained a better understanding of the spectrum of presentation to expect, Boycott said.

She attributes their success to the insight of the funders Genome Canada and the Canadian Institutes of Health Research to invest in the technology and the clinical community who were ready and motivated to mobilize.

Although the technological advances are promising, medical ethicists have raised issues about its application, such as:

• Does it remove a child’s choice to remain unaware of future health risks?
• What to do with "incidental" findings?
• How can health-care systems cope with massive information generated by the tests, including false- positive results?
• How and where should the patient’s raw data be stored?
• How is a patient’s insurability affected?

To answer these questions, people need to understand the limits of the technology as well as the potential.

Boycott's commentary was published in the American Journal of Human Genetics.