IWK looking to improve care for people with rare genetic disorders

A new research study between the IWK Health Centre and Dalhousie University in Halifax will look at using genome-wide sequencing to improve the health care of patients with rare genetic disorders.

The $4.8-million study, funded over the next three years, is one of six projects to be backed by Genome Canada, a not-for-profit organization funded by the federal government. Three projects are already underway in B.C., Alberta and Quebec.

Testing for rare genetic disorders often involves analyzing a single gene or a group of genes identified as most likely causing the genetic abnormality, said Dr. Karen Bedard, one of four leads on the IWK and Dalhousie project.

But occasionally that means multiple tests need to be done. Bedard said using a comprehensive genome sample from the beginning, in some cases, could result in a more complete diagnosis, faster.

"Sometimes it makes sense to investigate the genetic information of a particular gene. Other times, the clinical information we have … might not be very complete. It sometimes can make sense to look at a number of genes all at once," she said.

Genomes and genetic disorders

The goal of the study is to identify the types of situations where genome-wide sequencing would be beneficial.

"Our anticipation is, if this is applied appropriately, it's going to reduce costs. It's going to reduce time to diagnosis," she said.

But it will take a few years of genetic data cataloguing and analysis to find out whether that's the case and under what circumstances genome-wide sequencing should be used.

The human genome consists of all the DNA that's contained in each of the body's cells with all the proteins that our bodies need to function, said Bedard. Sometimes there's an error that leads to a malfunction of a particular gene or set of genes, which in turn leads to clinical diseases, she said.

Rare genetic disorders affect about one in 15 children across Canada, making up about 30 per cent of inpatients in pediatrics, according to a news release from the IWK.

There are an estimated 7,000 classified genetic disorders, but Bedard said there's really no definitive number because there are so many variations within human genes that could lead to problems.

"Any individual extra or missing bit of genetic information could be unique to a particular individual and not necessarily fall into one of those classes," she said.

For diseases that are well-characterized, like cystic fibrosis, it's clear which gene will be involved. But other disorders, including some cardiovascular conditions, could have many candidate genes involved.

It's in those scenarios that Bedard expects genome-wide sequencing could come in handy.

No genome-wide sequencing in N.S.

Right now, genome-wide sequencing does not happen in Nova Scotia.

The IWK does small-panel testing, sequencing a couple hundred genes as opposed to all the genes, but anything required beyond that is outsourced to other labs outside of the country.

"Part of the benefit of us collecting this data within Canada is we'll also have a good understanding of what that natural, healthy genetic sequence in our local population is," said Bedard. 

"That's very useful for identifying when you see something that deviates from that that could be potentially problematic."

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