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First Ones From Personal Genome Project Canada

The more researchers dive into people's genetic code, the more they have unexpected findings, writes Carolyn Abraham at the Globe and Mail.

The Personal Genome Project Canada sequenced the whole genomes of its first 56 participants and reported in the Canadian Medical Association Journal yesterday that it uncovered nearly 208 million SNPs and more than 24,000 copy-number variants. For a quarter of participants, the project researchers found genetic variants that could have health implications, and nearly all participants, 94.6 percent, were carriers of at least one single-copy pathogenic allele.

While the project researchers, led by Stephen Scherer at the Hospital for Sick Children, uncovered a pathogenic BRCA1 variant in a 65-year-old man of Ashkenazi Jewish descent and a rare LMNA variant in a 70-year-old man with hypercholesterolemia, some of their other findings were less clear. Abraham notes that one participant, a 67-year-old man, harbors a variant that's linked to aortic stenosis, but has a healthy heart, while another participant's results suggest she is mosaic for Turner syndrome, but the 54-year-old woman has no symptoms.

"They know that these defects cause genetic illness, because that's how it was first identified — in people who had the illness. But what they don't know is how many people have these defects that don't have the illness — and the question is why," participant Doug Mowbray, who carries the aortic stenosis-linked variant, among about two dozen others, tells the Globe and Mail. "Maybe the thing that's stopping it in me may point them in a direction for treating people who may have this in the future."