The Current

Health and the genome puzzle: Mapping DNA has gotten cheaper, but do we know how to use the data?

Sequencing the human genome has gone from costing billions to being something that the average person can order online. But a Canadian project has highlighted issues with interpreting the data.
As genome sequencing has become more readily available, scientists are realizing that collecting it is only the first part of the puzzle — we need to know how to interpret it. (Pixabay)

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Not only was Michael Szego the ethics lead on the Personal Genome Project Canada — he was also a participant, agreeing to have his genome mapped and shared publicly. He was one of 56 participants in the first research project of its kind in Canada.

One of the results in particular jumped out at him: a variant associated with hypogonadism.

"Hypo means 'less than,'" he said, "so you don't really want to see hypo and gonadism in the same square."

People with hypogonadism usually don't go through puberty and are sterile — but Szego has three kids.

"Clearly I don't have the trait," Szego told The Current's guest host David Cochrane.

It's what's called a variant of unknown significance, something that showed up in other study participants as well, explained Steve Scherer, the lead researcher on the project. 

It's going to tell us sometimes the right answer, sometimes the wrong answer and in most cases there's no answer.- Steve Scherer

"In some cases it didn't affect them at all. In some cases it may affect them later in life or perhaps their children will express them in a different way."

For many of the participants, however, the results were reflected in their health outcomes.

What became clear from the project was that collecting the data was only the first step; a lot more work needs to be done on how to interpret it.

He compares the technology to the early days of GPS, when the database wasn't complete and the technology often sent people to the wrong place.

"It's going to tell us sometimes the right answer, sometimes the wrong answer and in most cases there's no answer," Sherer said, adding that a lot more data is needed to compare against before the results can be more accurate.

The key will be learning how to interpret the data.

Dr. Stephen Scherer compared the technology to the early days of GPS, when the database wasn't complete. (Robert Teteruck/The Canadian Press)

In 2001, the Human Genome Project sequenced a single genome at a cost of $3 billion. That figure fell to $70 million dollars in 2007, when the genome of the first identified individual was delivered.

"We just got a machine in our lab at the end of January," Sherer said, "that's going to push it into the few-hundred-dollar range."

With plummeting costs, he predicts that mapping entire genomes of patients will soon become a routine part of the health system, even if it's never going to be perfect.

The likely application, Szego notes, will be patients having their genome mapped, which then provides broad data to consult throughout their lives.

He sees doctors using that data to paint the bigger picture around a traditional diagnosis, as well as increasing the chances of early diagnoses for diseases a patient is predisposed to.

That could come sooner than we think, but for now scientists are focused on learning how to make the data work for patients.

Listen to the full conversation at the top of this page.

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This segment was produced by The Current's Liz Hoath.