How researchers are mapping genetics in N.B. to detect inherited diseases sooner

Researchers at Vitalité Health Network imagine a health-care system where patients are screened early for a disorder or disease they inherited from their parents, and mothers know exactly what health problems they could pass down to their children before ever getting pregnant.

But first, medical teams need to know which genetic variants are common in specific regions of New Brunswick. Luckily, we are built of microscopic indicators that researchers in Moncton are studying so they can figure that out.

"We have thousands of genes," Jean Mamelona, who runs the provincial program of medical genetics, said. "We are going, specifically, to analyze the genes to see if there is a defect or … a default on the gene."

Mamelona and his research team at the Dr. Georges-L.-Dumont Hospital are touring the province to map people's genes to build the first database of its kind for each of the seven health zones in the province.

Genes provide a wealth of information about the body. But this research is focused on finding defects, otherwise known as variances or mutations. These can cause genetic disorders.

The hope is that medical teams will use that information to screen people earlier for conditions such as sickle cell anemia, cystic fibrosis and Huntington's, among others.

It could also be invaluable to inform more precise neonatal screening, Mamelona said.

"We can plan precision medicine for the area," he said.

The project, which began in 2018 and is partly funded by Research N.B., is expected to be complete once 60 people in each of the seven health zones have been tested by the end of 2027.

Teams have been testing 60 participants in each health zone who can provide medical information and a swab of DNA to be tested.

So far, the team has tested people near Moncton, on the Acadian Peninsula, and in Restigouche and Madawaska.

Results from some areas, such as the Acadian Peninsula and northwest regions, have not yet been released to the public.

The results from Zone 1, in the southeast, show that Acadians who were tested have similar genetic variants that are likely being passed down from generation to generation.

"We have seen that there are some variants that are really more frequent, compared to Caucasian populations elsewhere around the globe," Mamelona said.