Calgary researchers have developed a new tool to diagnose genetic mutations within hours

CALGARY — A Calgary researcher has developed a new tool that can detect genetic mutations in hours instead of weeks.

Pierre Billon, an associate professor at the University of Calgary's Cumming School of Medicine, said he was frustrated by how slow and expensive it is to perform genetic analysis in specialized private laboratories.

“We've developed a method that's very simple to implement and use, so any lab anywhere in the world can set up their own kit for a few cents a day to analyze genetic mutations,” Billon told reporters on Tuesday. .

Billon developed a system called One-pot DTECT with researcher Lou Baudrier and student researcher Orlena Benamozig.

It contains several enzymes and unique DNA fragments that reveal and identify genetic markers. A small metal box contains 16 vials of DNA fragments and two more enzymes.

Billon says the kit could be used to diagnose a wide range of genetic mutations for blood and other diseases, including sickle cell anemia and cystic fibrosis.

The methods used to test it are published in the journal Cell Reports Methods.

“It can be used in the laboratory for routine experiments and to diagnose genetic mutations in patients,” Billon said.

The goal, he said, is to provide researchers and doctors with a variety of tools.

“Visual detection requires very limited equipment and is the type of detection that can be done in the wild or in a very small laboratory setting if necessary.”

Dr. Nicola Wright, a pediatric hematologist and immunologist at the Alberta Children's Hospital, evaluated the test's accuracy. One of his areas of expertise is blood disorders such as sickle cell anemia caused by genetic mutations.

All newborns in Alberta are screened for sickle cell at birth and any abnormalities are usually reported within 96 hours, Wright said. But he says a follow-up blood test is needed to confirm sickle cell, and results can take two to four weeks.

“With the test developed by Dr. Billon, we can do (it) directly from the original blood spot and get the results within hours,” he said.

Early treatment is important for newborns with sickle cell disease, Wright said.

“During infancy, they are at high risk of bacterial infections, so we give these babies Amoxil or another antibiotic to prevent them from getting bacterial infections, and that reduces mortality in the first year of life.”

Billon said there had been discussions with a number of companies about selling the kits, but said all the information was available and it would be easy and cheap to build the labs themselves.

“It requires a specific DNA fragment to provide the chain and enzymes that can be purchased from suppliers,” Billon said.

He said there has been a lot of interest and he hopes it will save lives.

“It's too early to say, but it's true that the sooner you can detect a mutation, the sooner you can get patients on treatment.”

This Canadian Press report was first published on February 6, 2024.

Bill Graveland, Canadian Press