Genome Canada has launched the genCARE project, which aims to improve health outcomes for Black Canadians by uncovering genetic variants unique to that population. The Black-led project will undertake genome sequencing of more than 10,000 Canadians of African ancestry, focusing on hypertensive disorders, type 2 diabetes, and triple-negative breast cancer. Genome Canada is an independent, federally funded not-for-profit organization.

“For medicine to be precise for our populations, we need to ensure that the genome data relate to those populations,” Upton D. Allen, MBBS, administrative lead of genCARE and professor of pediatrics at the University of Toronto, Toronto, told Medscape News Canada. “We want to enroll a sufficiently large number of people that will allow us to have meaningful conclusions and analyses around three disorders. We will also include individuals with other medical conditions and those who are otherwise completely healthy with no known medical issues.”

The information gleaned from this project could enhance prevention and treatment strategies for Black Canadians who have any of the three chronic conditions of interest. “The issue is how we might get individuals in a position to benefit from the advances brought about by precision medicine,” said Allen.

Participants who self-identify as Black individuals will be recruited over a 4-year period. Blood samples will be acquired for the purposes of sequencing DNA, and socioeconomic and demographic information will be captured through questionnaires, explained Allen. Project leaders and community leaders will collaborate in the recruitment of participants.

Plan for Transcriptomic Analyses

“The first part of the project is to increase the diversity of the [genetic] dataset to have better representation of African ancestry,” Loydie A. Jerome-Majewska, PhD, professor of pediatrics and human genetics at McGill University in Montreal, told Medscape News Canada. “Only then can we compare and identify things in individual patients and controls.” Jerome-Majewska is leading the genetic research in Quebec.

In addition to DNA sequencing, the investigators will perform transcriptomic analyses. “For a subset of patients, we are looking at the transcripts that are expressed, which will give us additional insights,” said Jerome-Majewska. The project may permit investigators to identify genes and RNA transcripts that may correlate with phenotype severity among patients with triple-negative breast cancer or patients with preeclampsia during and after pregnancy.

Expanding Canada’s genetic data will augment the statistical power in any analysis and have downstream effects in clinical practice. “We try to use all of these [genetic] sequences to make predictions about disease progression or drug efficacy,” said Jerome-Majewska. “If you don’t have the sequence of the population that has African ancestry, then you can’t make predictions.”

Valuable Large-Scale Project

This research will have value in clinical practice, said Marco Marra, PhD, professor of medical genetics at the University of British Columbia in Vancouver. “Such studies are important because there are different disease risks in different populations. Some of those risks have to do with access to the health system or lack thereof, and some of those risks have to do with genetic factors,” said Marra.

Genome sequencing and deeper genetic understanding may lead to discoveries that enhance the treatment of various conditions and inform approaches to prevention, he added. “There’s the idea that one would discover a variant or detect a variant with special significance in specific populations, which could be used to improve health and disease management. It could be that a variant may, for example, confer an enhanced risk of cancer or a risk of reacting negatively to a medication.”

Patients who carry a cancer risk variant might be monitored carefully so that if, for example, cancer does develop, it can be caught at an early stage, treated, and cured, explained Marra.

“If a cancer risk variant is found in family members who don’t have cancer, it may imply the need for enhanced monitoring in such family members,” said Marra. “It may mean the family members gain access to screening technologies at a higher frequency or undergo other interventions, depending on the disease.”

Without the findings from this project, patients might be managed inappropriately, according to Marra. “There may be a lack of information that could otherwise be used to put them on the right medical path,” he said. “Ensuring we have studied diverse populations will reveal features that are going to bring benefit to the people at risk of serious illnesses.”

Allen, Jerome-Majewska, and Marra reported having no relevant financial relationships.