Editor’s note 2/6/2013: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who received their health information prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will only have access to ancestry information as well as access to their uninterpreted raw data. These new customers may receive health reports in the future dependent on FDA marketing authorization.
When he signed up as one of 23andMe’s first customers, Jonathan Zittrain thought that one day personal genetic testing could transform healthcare, he just didn’t imagine it would involve him.
Jonathan writes books, teaches at Harvard Law School and is the co-director of the university’s Berkman Center for Internet & Society. He sees the explosion of insight into the human genome as part of what is happening with information technology in general.
“I’m a pretty data hungry person, so I saw it as more than just a curiosity,” he said.
Still, he didn’t suspect that at a critical moment in his own life, his 23andMe results would help guide doctors in the midst of treating him.
“It became extremely important for my care,” Jonathan said. “So much so that I could imagine a time when we would consider it unusual not to be genotyped.”
It all started with a generic-sounding but worrisome “fever of unknown origin.”
Jonathan, who was otherwise healthy, started getting fevers every night. Busy with other things, he first figured the fevers would go away on their own. But by the third week, he went to the doctor.
“I’d started feeling pretty lousy,” he said. “And it was looking like I’d need to order Tylenol in bulk.”
Thus began a health care odyssey that included a series of doctors’ visits, a tour of a variety of medical specialists, and a sampling of an array of sophisticated medical tests.
The way he tells the story, it sounds a little like one of those medical mysteries dissected in an hour-long show on prime time. (Indeed, the New York Times ultimately wrote it up for its medical mystery column.) But for Jonathan, as doctors began getting eye-raising data back on things like his levels of C Reactive Protein and his sedimentation rate, he began to understand that whatever he was dealing with, it was serious.
At one point not long after coming home from getting a CT-scan, he got a call from his doctor.
“She said, ‘You need to get to the hospital right now.’”
When he arrived he was whisked in through the emergency room and informed that he had an unexplained mass in his liver, along with a clot in the liver’s portal vein. Doctors still didn’t know why or what it was but the possibilities were serious. It could be a deadly abscess – or cancer.
“I was so busy with different tests it was hard to think about it all too much, but I was getting pretty anxious,” he said.
The doctors weren’t sure what it was. They were using every advanced diagnostic they could to try and figure out what was going on.
“I was racking my brain too and at some point I brought up that my 23andMe results say I’m heterozygous for Factor V Leiden,” he said.
A variant in the F5 gene causes a change in the Factor V protein, which increases the risk of blood clot formation. Such clotting can cause deep vein thrombosis and these clots can break off and then travel to the heart or lungs. Jonathan wondered if his genetic predisposition toward blood clotting might be a clue as to what was going on in his liver.
The doctors decided to run their own test for Factor V. The test confirmed what the 23andMe test had found.
“This pointed them in the right direction,” he said, because it provided an explanation for the blood clot that could help rule out other causes.
It didn’t mean he was out of the woods however. So Jonathan took another unusual step, tapping into the Internet and the wisdom of crowds for help. With the aid of a physician who contacted KevinMD, he posted on social media his symptoms and his new genetic information, and asked for help figuring out what was going on.
“Within minutes someone posted a paper that had been in a Korean Medical Journal,” Jonathan said.
It was uncannily similar to his case — a woman with a venous thrombosis in the liver, fevers, and a mass. With this new information, the information from his 23andMe test and the information from the hospital test, doctors had more to work on zeroing in on a diagnosis and treatment.
“The data from 23andMe helped to rule out more worrisome diagnoses and stave off more invasive treatments,” Jonathan said.
Doctors ultimately removed the clot as they took out part of his liver, and the intervention cured the fevers.
For Jonathan his case highlights how 23andMe’s test can help doctors unravel complicated cases and provide better care.
“For me it played an extremely important role in narrowing down the possibilities to include a contributing role by a hereditary condition,” he said. “I can see how in the future there might be a day when everybody who comes in the hospital door has been genotyped – after insisting, of course, on rock solid protections for privacy. And despite being a fairly private person myself, this experience moves me to speak out – and put my name behind it.”
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.