University of Calgary researchers unveil fast, affordable genetic testing kit

University of Calgary researchers have developed a quicker and cheaper way to conduct tests for genetic mutations — and it's already proving to be an accurate tool for diagnosing newborns and toddlers.

"The faster you can detect the presence of pathogenic mutations, the faster you can get patients on treatments," said Dr. Pierre Billon, an associate professor at the University of Calgary's Cumming School of Medicine.

Dr. Billon first developed the testing kit while at Columbia University and continued the work at the U of C.

What the team has been able to design, he said, is a versatile and affordable kit that can be used by doctors and scientists around the world.

"With this tool, we can get the results in the same day for only a few cents per sample," Dr. Billon added.

The kit is called One-pot DTECT and it contains "multiple enzymes and unique DNA fragments that reveal and detect genetic signatures."

It can test for and detect a wide range of blood disorders, such as sickle cell anemia. One-pot DTECT can also diagnose other genetic disorders, including cystic fibrosis, researchers say.

"This has amazing implications in the clinic to expedite genetic testing and also to reduce the cost of genetic testing for a multitude of different diseases," explained Dr. Nicola Wright, a pediatric hematologist and immunologist at the Alberta Children's Hospital.

In a trial of the kit, Dr. Wright conducted tests on 21 people who were either sickle cell anemia patients; people who carry the mutation, but do not have symptoms; or people who do not have the mutation.

The One-pot DTECT accurately identified the people with the genetic mutation and the results were ready the same day.

"We see that anxiety in the families when they get these abnormal results — it's really stressful," said Dr. Wright.

"If we're able to tell a family much faster... that has a huge advantage over what we're doing now," she added.

More on the One-pot DTECT kit and its tests were published at the end of January in Cell Reports Methods.