23andMe customer Jim Shuma was mentioned in a piece put together by NBC News about using genetic testing to manage your health. Here’s more of Jim’s story.
Jim Shuma isn’t a pessimist, but for a long time the 33 year-old software engineer just assumed he’d die young, like his father and others in his family over the generations.
His dad died at 51 of sudden heart failure. There’d been no symptoms and it came without warning. For years Jim thought his “bad genetics” would lead him to the same fate.
But he never knew why his father’s heart gave at such a young age.
“I don’t have a fatalistic view of life, I just knew I had this thing hanging over me,” he said. “I didn’t know exactly what it was.”
That’s where 23andMe came in.
“It’s no exaggeration at all to say that 23andMe saved my life,” he said.
As he tells it, he learned life saving information from his test that he wouldn’t have been able to find out about any other way. He tested with 23andMe as part of an effort to keep himself healthy. Although Jim may have been living in the shadow of his father’s death, he still wanted to do whatever he could to live a long and healthy life. Around his 30th birthday, he began to take a lot better care of himself. He began training for a half marathon, changed his diet and lost a bunch of weight.
Testing with 23andMe was part of that effort to take charge of his health.
“I got my 23andme report, partly out of concerns based on my family’s bad genetics,” he said.
Jim wanted to know if he had a condition related to what had killed his father. If he did, he wanted to know if there was anything he could do about it.
Although it’s natural to assume it’s all about genetics, that’s not automatically the case. People often equate a family history for disease as being related to genetics. Although it often can explain why certain conditions reoccur through generations, lifestyle could also explain those conditions. That’s where 23andMe can help.
When Jim tested he wasn’t surprised that his 23andMe results showed he had an elevated risk forcoronary heart disease, the leading cause of death for men in developing countries. The average risk for heart disease is already pretty high, and while genetics plays an important role, a person’s lifestyle — what they eat, whether they exercise — are also very important.
But for Jim the critical part of his 23andMe results were the additional details in the coronary heart disease report and some of the specific genetic variants we use to calculate risk.
At this point in the story, Jim usually backs up a bit. For years he’d talked to his doctors about his father’s early death and whether he should be concerned or get additional tests himself. Because he didn’t have any symptoms of heart disease, there wasn’t really a cause to do additional tests.
But that changed soon after he got his results.
After learning about links between genetic variants in the LPA gene — which codes for a type of cholesterol molecule called lipoprotein (a) — with a serious heart condition, Jim bored into his 23andMe data. He looked specifically at the variants used to calculate risk for coronary heart disease. He indeed had a risky variant in the LPA gene. Although there may be many of these variants in the LPA gene, 23andMe’s test only looks at one.
Taking the report with him to his doctor, he explained his concerns. Considering his genetics and his family medical history, his doctor decided to do a lipid test to look specifically at his lipoprotein (a) levels.
“The results were shocking,” Jim said.
His levels were more than ten times what is considered healthy.
Fortunately, there was something he could do about it.
“I scheduled an appointment with a lipid specialist, who put together a treatment plan for me and gave me a stack of journal articles published on my condition,” he said.
Within a month, his lipoprotein(a) level had been cut in half and soon after that his lipoprotein (a) level had dropped to close to normal.
“It appears to me that this issue did in fact kill my father… but the treatment plan I’m on has me at a safe place, one which should be sustainable for life,” said Jim. “23andme gave me the information I needed to know what to look for, and it gave the doctors … cause to look deeper.”
Results not typical. Results vary due to unique differences in each individual’s DNA. On average, users receive at least one or two results that may help with proactively managing health. 23andMe’s services are not a substitute for professional medical or diagnostic advice.