Man diagnoses his own chronic pain by sequencing his genome

For decades Vermont's Greg Merhar suffered from chronic pain. He's been a runner for more than forty years and as a result had long suffered joint and ankle problems especially in his Achilles. But his doctors were never able to figure out the cause.

That inspired him to try to figure it out himself. And in 2014, with the help of his wife Debra Leonard -- an expert pathologist in the field of molecular genetics -- he was able to get his genome sequenced.

Merhar tells As It Happens host Carol Off that his wife Debra was also interested and curious about getting her genome sequenced.

We had this opportunity so we decided to give each other our genomes instead of a Christmas present.- Greg Merhar

"We had this opportunity so we decided to give each other our genomes instead of a Christmas present."

The opportunity, explains Merhar, was an Understand Your Genome symposium in Vancouver, British Columbia.

After he had his genome sequenced, the results showed he had the Familial Mediterranean Fever gene, or FMF. He says because he has blond hair and blue eyes most doctors would not have checked him for the disease.

"It's most prominent in Arabs, Turks, Armenians, Sephardic and some Ashkenazi Jews," Merhar explains. "It's a dark-haired, dark-eyed phenotype."

He then discovered through researching his ancestry that he did indeed have some Ashkenazi Jewish and Italian ancestry.

It took some time for Merhar to convince his doctors, but he did eventually receive the drug treatment he needed for his FMF-related chronic pain.

Today, he says he is living pain-free.