Genetic testing program pioneered in Maritimes improving cancer care in Canada

A genetic testing program that helps rule out a stem-cell donor due to a genetic risk for developing leukemia was pioneered in the Maritimes and is helping to improve cancer care in Canada.

Ryan White credits the work at the IWK Maritime Centre for Precision Medicine in Halifax for saving his life.

“I think the odds, if I didn’t have this testing through Precision Medicine, like I don’t think I’d be here today,” he said.

Back in 2020, White was feeling short of breath and had low energy, so he decided to seek medical help.

Soon, he learned he had a rare form of leukemia.

“It’s a disease called acute myeloid leukemia, so it’s a blood cancer. It’s (a) very quick progression if it’s not caught in time,” he said.

He was treated in May 2020 with chemotherapy, and despite going into remission, the cancer came back later that year.

This time, he needed a bone marrow transplant.

“I was home for a few weeks and then found out. It was an unfortunate Christmas present that I came out of remission in December and then had to go back for a second round of testing,” he recalled.

“That first trial didn’t work, (so) we went straight to that level three. And they prepared me for a bone marrow transplant, so more chemotherapy and then ultimately leading up into a bone-marrow transplant.”

It was at this point that hereditary genetic testing was used to help create his treatment plan. The testing was done as part of Canada’s first clinical program focused on hereditary myeloid malignancies, which was developed by hematologist Dr. Amy Trottier.

Trottier says in White’s case, testing showed he had a hereditary predisposition for the cancer.

“And that was the reason why it came back — because although his leukemia was cured, he still had that genetic change that would just keep making leukemia happen,” said Trottier.

That key detail can be used to rule out potential bone marrow transplant donors.

“Originally, when he was being worked up for transplant before we actually had this genetic test result back (…) one of his siblings was found to be a perfect match,” said Trottier.

“And they were going to be the planned donor. Fortunately, we got this result back in time.”

Armed with this new information, an alternative donor was identified and White’s treatment plan was designed around his unique genetic factors that contributed to his disease.

“Based on that overall genetic disposition, they were really able to hone down the pathway (for the) types of chemotherapy, how long, how many doses I need,” he said.

“And then what the follow-up plan looked like and then ultimately leading into my bone marrow transplant.”

IWK Health is one of only two centres in Canada offering this specialized testing, and has now become a referral centre for the rest of the country.

“People often think of IWK as a women’s and children’s hospital. What people sometimes don’t realize is that our genetics and genomics teams here actually treat people across the lifespan, so not only women and children,” said Lee Anne Boutilier, Precision Medicine’s director.

For White, the ability to access the testing was life-changing. He says his recovery wasn’t an easy road by any means, but he’s “happy to be on this side of the grass.”

“Once I had the bone marrow transplant, I was home, I started to process things. There was a depression trying to figure out why me, why this had to happen,” he said.

He says he learned to “recognize that life is short” and to “just stop and smell the roses and experience things.”

“Just enjoy the people around me, my wife, my mother, my father, and my sister, and focus in on the positives within my life. So, ironically, getting back to going to the gym, getting out gardening, going mountain biking,” he said.

And he’s thankful for the team at the IWK for helping him have this opportunity, he says.

“It was a tough journey, but my health has been great over the last several years. April the 8th was my fifth-year anniversary of being in remission, essentially and I really credit the Centre for Precision Medicine with saving my life,” he said.