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 Judy Jackson got her 23andMe results she marveled at the timing.
“’Where did you get this?’” the doctor asked somewhat amazed.
Judy told him about 23andMe.
Judy, who is retired and living in Texas with her husband, signed up with 23andMe to look into family lore that she had Native American ancestry. Her husband’s family had similar family stories. While their DNA showed no evidence of Native American ancestry, Judy did get a surprise that had proved incredibly important for her health.
Judy’s 23andMe results showed that she carried genetic variants in the BCHE gene that put her at risk for extended paralysis after treatment with choline ester drugs — often administered with general anesthesia when a breathing tube is used in surgery.
If the drug is used on a person like Judy — someone with what is called “pseudocholinesterase deficiency” — that person might need an unusually long time for the drug to wear off. Although it sounds innocuous, this can mean the patient is vulnerable after the breathing tube is removed, their breathing can stop and they are often unable to move or communicate their distress.
For Judy — whose surgery required general anesthesia and a breathing tube — the information was vital. After showing the results to her surgeon she then showed them to her anesthesiologist, who was equally amazed.
“I presented my genetic data report to him,” she said. “He was very interested in how I had obtained this information and was pleased that I had informed him.”
He also suggested she wear a medical alert bracelet.
“This information is life saving,” said Judy. “I have encouraged many family and friends to also have their DNA test done.”
(Check out Renae’s story about discovering that she too had pseudocholinesterase deficiency.)
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.