The Genetic Tests for Drug Response

August is Medic Alert Awareness Month. Medical identification tags such as those available from the Medic Alert Foundation provide emergency responders and health care providers with immediate access to important information about your health. Having this information accessible could save your life. The post previously appeared on our Stories page.

Lying on the operating table, conscious but unable to speak or move, Renae Bates was surrounded by doctors who didn’t know she was struggling to stay alive.

“I was just trying so hard to move to tell them I couldn’t breathe,” said Renae recalling what happened when she woke up after a tonsillectomy five years ago.

Renae, a 28 year-old account manager for an architectural firm in Australia, is among the five percent of people who have pseudocholinesterase deficiency, which increases the risk of prolonged paralysis after the administration of drugs used during anesthesia. 23andMe reports data for three of the most common genetic variants associated with pseudocholinesterase deficiency. But at the time of her surgery, Renae hadn’t yet tested with 23andMe.

Both she and her doctors were unaware of her sensitivity to the drugs used to temporarily relax a patient’s muscles before anesthesia is administered. The drugs — known as choline esters — relax a patient’s muscles to the point where they need assistance even breathing. Typically the drugs wear off within five minutes. But for some patients the effects last a lot longer.

In Renae’s case her surgery had been completed. Her breathing tube had been removed, but she hadn’t regained muscle control.

The doctors and nurses were all cleaning up after finishing the surgery and they didn’t notice anything amiss.

“Then I started twitching,” she said.

A nurse then noticed what was going on and the team rushed to get Renae breathing again. Describing it now, Renae doesn’t dramatize what happened and doesn’t fault the doctors. How would they have known, she asks.

One way, she said, is the test from 23andMe.

View your genetic results for conditions emergency responders may need to know about, including drug response.

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When she first tested with 23andMe, it wasn’t for any other reason but curiosity. Her husband is in medical school and both were interested in the science.

“The results were really interesting,” Renae said. “All the disease risks, that and the drug response information, it’s like a big package deal.”

But she also noticed that her tests showed she had the variants that are associated with pseudocholinesterase deficiency. Clearly it would have been helpful to know that before the surgery.

“If you are at increased odds for this, I absolutely suggest getting a medical ID bracelet, both for your sanity and the hospital staff,” she said.

23andMe customers can take our 5-minute “Medication Side Effects” survey today to help further research into genetic factors that impact drug response.

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.

Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.





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