The test for everything

In the course of his early research, the chief scientific officer of Genome BC routinely drew his own blood to compare with the DNA of people who were known to have disorders such as cystic fibrosis or spinal cerebral ataxia.

"I would draw blood weekly ... and provide that to extract DNA," said Brad Popovich. "The reason I was very comfortable doing that is that knew I didn't have any one of those diseases. So, I was a good control."

But over all those years, dating back to the late 1980s, Popovich never allowed his DNA to be tested for the APOE e4 gene. Having a single copy of the APOE e4 gene increases the carrier's risk of late-onset Alzheimer's disease. Having two copies - the e4e4 configuration - dramatically increases the risk yet again.

"I basically said to the lab: 'I'm not a control for that test, I don't want you ever to use me as a control for that test, because I don't want to know and I don't want you to know if I have that,'" he recalled.

"Both my maternal grandmother and my mom died of dementia and so there was a significant risk there," said Popovich.

But when Popovich the son and grandson was faced with the opportunity to have his whole genome sequenced, Popovich the scientist had to come to terms with what the test would certainly reveal.

"When I did my whole genome, the biggest question was Alzheimer's and is this going to show that I have a significantly increased risk," he said. "Then, if so, what would I do with that information? We lived through what happened with my mom and I lived through it with my grandmother and if there is a higher probability of that happening to me ... why not know that?" Popovich's decision, made with his wife Nicola, was made simpler because the two have no children. The presence of hereditary disease in his genome has no downstream impact, but a positive result for an Alzheimer's-associated gene would have significantly changed both their lives.

"I'm at the point in my life where I just decided that if I had that information I actually could work with (it) in a constructive way, as constructive a way as not knowing," he said. "I wanted to do this to become a consumer, to find out how you and I are going to access this information."

Nicola said she was more concerned about the immediate emotional impact on Brad of "profound" findings from the process than the long-term consequences of any potential illness.

The $5,000 whole genome sequence and medical interpretation provided to Popovich by the Illumina Genome Network in San Diego, Calif., did not find an e4e4 configuration, or even a single APOE e4. So, that was a relief.

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The test for everything