The ability of researchers and doctors to more easily and cheaply sequence a patient's entire genome has launched a new era of "precision medicine," in which treatments can be tailored to the specific genetic variations that may underlie a disorder or disease.
For Indigenous peoples in Canada, however, the technique has only increased the gap in medical care. Not only is it harder for people in Indigenous communities to gain access to the technology, a lack of data on the genetic variations within those communities means the technology is also less effective.
Now a team of British Columbia-based researchers is hoping to narrow the gap by creating a system with which Indigenous people can gather and oversee their own genetic data in order to improve diagnoses and health outcomes related to genetic disease.
The $10.4-million project is one of 15 selected as part of a $255-million push by Genome Canada, the Canadian Institutes of Health Research and other partners to bring new developments in precision medicine closer to patients, the funding organization announced on Tuesday.
Many of the projects are aimed at children, since disorders that are caused by genetic variations frequently manifest at an early age. Among the other successful projects included in the announcement are efforts to leverage the power of genomics to address diseases such as childhood arthritis, cystic fibrosis and brain cancer.
The Indigenous project stands out as the largest of its kind in Canada – and because it involves the sensitive issue of how genetic information from First Nations, Inuit and Métis communities should be managed for and by those communities.
"This is really a partnership," said Nadine Caron, a physician and researcher at the University of Northern British Columbia in Prince George, who is co-leading the project. "We cannot do this without the voices of all the Indigenous groups in Canada"
Dr. Caron, who has the distinction of being Canada's first female First Nations surgeon, said she was excited and pleased that Genome Canada had chosen to fund a project whose purpose is to address an important but largely unrecognized inequity. She added that such a goal was worth embracing "as a country, in terms of what we aim to achieve and who we think we are."
Since the first draft sequence of the human genome was released in 2001, the rising pace and dropping price for DNA sequencing means researchers can now compare genetic differences among tens of thousands of people as they search for variations that may be linked to rare disorders and disease. But the overwhelming majority of those genomes are from individuals of European descent.
As a result, a clinician looking for a possible genetic cause for an ailment affecting an Indigenous person in Canada would not have the background reference genomes to distinguish between a disease-causing variation and one that is benign but simply more likely to be present in Indigenous populations.
"In order to be able to diagnose effectively, we need to be able to understand what is common in the population," said Laura Arbour, a project co-leader and a professor of medical genetics at the University of Victoria.
She added that the Indigenous project, dubbed "Silent Genomes," would aim to shed light on genetic effects that have led to certain diseases becoming more prevalent among different Indigenous communities, as well as more easily identify Indigenous children with particularly rare diseases.
Lisa Webster, a Victoria-area mother of Indigenous descent whose son is one of only seven people in the world with a particular genetic disorder – and who has participated in Dr. Arbour's research for many years – said the new project could give parents answers more quickly in cases such as her son's, enabling them to better address their children's health needs.
"The research is not the end, it's the means to an end for a better quality of life for Indigenous people," she said.