According to a story reported by Global News Canada, Michelle Quinlan said it was seven years before doctors correctly diagnosed her daughter, Avery, with Coffin-Siris syndrome. A new project by Genome Canada may fix the difficulty of diagnosing.
Coffin-Siris syndrome is a rare genetic condition that is sometimes evident at birth. Affected kids usually have abnormalities in the fingers and toes, as well as eye abnormalities. Five different gene mutations can be responsible for the development of the syndrome, and most of these mutations are the result of a new mutation.
Some symptoms of the syndrome include an unusually small head, excessive hair growth, low nasal bridge, and more. Diagnosis for the syndrome is difficult and ultimately made through clinical evaluation and specialized testing. There is no cure for Coffin-Siris syndrome at this juncture, and most treatments focus on patient support. To read more about the condition, click here.
Because there are people like Michelle Quinlan who would have loved to get an earlier diagnosis for her daughter with Coffin-Siris syndrome, Genome Canada has recently launched a pilot project in hopes of getting an early diagnosis on rare diseases that will impact roughly 1 million Canadians each year.
The DNA testing program will include a data-sharing aspect that will allow DNA sets to be shared across provinces in order to “improve the interpretation” of the diseases, stated Dr. Kym Boycott, a clinical geneticist at the Children’s Hospital of Eastern Ontario.
As for the privacy of this information, hospitals and medical institutions will be the only holders of the information. This may still make a few wary, however, as a virus just last year breached hospital systems everywhere, including Canada. However, Genome Canada has made sure to allow patients to share their data strictly on an opt-in basis.
Dr. Boycott has confirmed that the pilot project is ready to come to fruition, though there are still some details to work out on the data-sharing front. “This particular database would be housed by a data custodian selected by Genome Canada. Ultimately, when it’s integrated into the health-care system, institutions or provinces will have their own data solutions,” he said.
Continuing, Boycott emphasized the security of the program, “I think that means we need to develop these data solutions on a collaborative basis and provincial basis. And when we do that, we should ensure that we have sufficient resources to house it, protect it, use it.”
The pilot project comes around a year after there was a major security breach in the U.K., including a hospital in Canada. The Canadian hospital affected was Lakeridge Health in Ontario.
“These breach risks come out when it’s being done by people without enough experience. Breaches can happen no matter what you do,” said Boycott.
Still, those in charge of the program are aware of this danger and are taking precautions to make sure their data will be secure as possible. The goal for the project is for it to be clinically implemented in three years.
“The end goal would be, three years from now, any patient in Canada can turn up at a hospital or at their GP and get the appropriate test, and get a diagnosis, which is not the case right now,” explained Marc LePage, Genome Canada CEO.
For Michelle Quinlan’s family, this type of project could have made a big difference for her daughter and would have spared the family years of confusion. Quinlan definitely supports the idea of data sharing to gather more information and improve technology for patients like her daughter across the country.
“I trust the people that are running the project to have the right precautions in place. I would probably want to have a good understanding of how it’s being used and why, but I see the benefit,” said Quinlan.
Genome Canada is working hard to ease people like Quinlan of their reservations. “We’re all very conscious as we build these systems. We won’t own the provincial databases, they’ll be owned by the hospitals or the ministry of health. We have to be as good as they are. They are working separately on getting the cybersecurity around that data,” said LePage.
An aspect of the project’s proposal also includes revamping cybersecurity in order to protect the data. Boycott and LePage have big plans to get this technology into clinics and hospitals around Canada in just 3 years. We’ll stay tuned for how it all pans out.