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.
Sometimes when she sees her 5-year-old daughter thriving and making up for lost time, Kristen Whitaker says it makes her feel “almost weepy.”
It reminds her that for a long time her daughter wasn’t doing so well. It reminds Kristen that her little girl was for a time falling behind on the growth chart, not eating and sometimes doubled-over in pain.
And it wasn’t just her daughter. Kristen, a mother of three in Wellesley, Mass., also lived with stomach pain for years. She just thought it was something she had to endure.
“I signed up for 23andme at the request of my doctor,” Kristen said. “I had no idea what it would reveal and certainly was not prepared for how it would change my life.”
For 15 years her stomach problems were diagnosed as nothing more than “irritable bowels.” Uncomfortable as it was, she just gritted it out and lived with it. But after signing up with a new doctor things started to change.
She went to Dr. Mark Costa, who runs a small “concierge” medical practice outside of Boston called Enhanced Medical Care. Dr. Costa said he tailors wellness plans for each of his patients.
“We’re not driven by the insurance model,” Dr. Costa said about his practice.
Concierge practices turns the insurance model on its head by having patients pay a flat fee for care, that way doctors have an incentive to keep them healthy and to avoid costly treatments. For Dr. Costa the approach starts with detailed discussions with his patients about their lifestyles and health history. As he develops a wellness program for each of his patients, Dr. Costa said he is thinking about prevention particularly for diseases that his patients might be at most risk.
“If we know about what disease they are at risk for before they become ill, we can take steps to prevent it,” Dr. Costa said. “That’s where 23andMe’s test came in.”
His wife, Marilyn Chown, a registered nurse, who spent years doing epidemiology research at Brigham and Women’s Hospital in Boston, suggested that he think outside of the box in developing wellness programs for his patients that also looked at a person’s genetic risk for disease.
Kristen was one of the first patients Dr. Costa suggested use 23andMe.
“I said to Kristen ‘why don’t you do this test?’” he said. “And lo and behold we hit a home run.”
The test revealed Kristen had a much higher than average genetic risk for Celiac Disease.
Celiac disease is an autoimmune condition that affects the small intestines and is triggered by the gluten found in wheat, barley and rye. It can sometimes be hard to diagnose. In Kristen’s case, her years of stomach problems had been diagnosed as nothing more than “irritable bowels,” she said.
After seeing her red flag for Celiac, Dr. Costa performed a simple blood test that pointed to Celiac. He then did an endoscopy and provided the final diagnosis. A change to a gluten-free diet can alleviate the painful symptoms of Celiac and allow the damage to the small intestines to heal.
Because the disease is genetic, Kristen thought to have her three children tested. She learned her five year-old, who had battled her own stomach pain, had Celiac as well.
The simple diet change also changed her daughter’s life.
“She feels good again,:” Kristen said. “She no longer cries when she eats. She eats a lot. She’s in a massive growth spurt. She can focus in school. She is happy.”
“Had I never done 23andMe, I am 100 percent certain she and I would still be eating gluten. And we owe it all to a little spit.”
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.