Lillian Newman decided to use 23andMe in part because she wanted to learn about her grandfather, who was from Cuba and had some Sephardic ancestry, but she thought testing could reveal so much more than that.
“The reason I chose 23andMe is that (it has) a focus not only on the ancestry side but on how your DNA relates to your health,” Lillian said.
What I Know Now
Little did she know that her 23andMe health reports would help her profoundly. She shared her story because she thought it might help others. Lillian believes that she’s not the only one who didn’t know that genetics affects how one’s body processes many commonly prescribed medications.* Despite this, clinical guidelines rarely call for testing people before prescribing those medications.
“I wish I had known then what I know now,” Lillian said. “Using 23andMe+ Premium and finding out about the SLCO1B1 gene was huge. Huge.”
Her reference to the SLCO1B1 gene refers to how different genetic variants in SLCO1B1 can affect how you process certain medications. Like millions of Americans, Lillian Newman has high cholesterol, which, left untreated, can lead to a whole host of issues, including heart disease, heart attacks, and strokes. She learned about her high cholesterol after a routine blood test in 2018. To address the problem, Lillian’s doctor prescribed a statin.
Statins Save Lives
Statins are among the most prescribed medications in the United States. According to the CDC, an estimated one in four adults in the U.S. takes a cholesterol-lowering medication, and the vast majority of those are statins.
Statins work by inhibiting an enzyme in the liver so the liver makes less cholesterol but pulls in more cholesterol from the bloodstream. That lowers the amount of bad cholesterol in the blood, stabilizing any plaques along the artery’s walls, and preventing even more plaque from building up. That, in turn, reduces the chances of a stroke or heart attack. Statins have proven mostly safe and effective in lowering cholesterol and thus have helped to prevent heart attacks and strokes.
Side Effects
But there are some side effects from taking statins — headache, brain fog, fatigue, and sometimes intense muscle cramping and pain. Sometimes, these side effects are related to a person’s genetics, which can affect how they process medications. In turn, the side effects sometimes lead people to either change how they take their medication or stop taking it altogether, which in turn can lead to poor health outcomes.
For Lillian, the side effects — severe muscle pain — began after her doctor increased the dose of the statin she was taking. Within a few weeks, the muscles in her legs started cramping. At one point, she had such crushing chest pain that she thought she was having a heart attack and was rushed to the ER. After a cardiologist determined it wasn’t her heart, her doctor told her that sometimes people experience cramping as a side effect of taking statins but that the benefits of taking the statin outweigh the pain.
“I remember I went home feeling despondent,” Lillian said.
Lillian said no one ever mentioned genetics or how using a different statin dose might help. She thought she just had to grit her teeth and bear it. Periodically, the pain was so bad that she’d go off her medication, something that can be very risky.
A Simple Change
A person’s genetics — specifically a genetic variant that affects the function of the SLCO1B1 transporter protein, which in turn affects how a person’s body processes the statin known as simvastatin — plays a role in side effects like muscle pain in some people. Other non-genetic factors also play a role, but very few people are tested to see if they have a genetic marker that might impact how they process a drug. Lillian didn’t know anything about what’s known as pharmacogenetics or how DNA variants influence the body’s ability to process medication.
“In the five years of dealing with cholesterol issues, no one tested me for SLC01B1,” Lillian said.
Although she had been a customer of 23andMe for years, last year, she decided to upgrade to 23andMe+ Premium, which includes pharmacogenetic reports. When she opened the report on SLCO1B1 Drug Transport, specifically looking at the medication insights for simvastatin, it felt personal to her experience.
“It provided me with critical information to discuss with my doctor,” Lillian said.
Her doctor lowered her statin dosage, and that small change made a huge difference in her life, allowing her to continue to manage her cholesterol but without the debilitating pain.
“Now, I wanted to tell you that doing the 23andMe+ membership is the best (money) I spent this year,” Lillian said. “I am deeply grateful to 23andMe. You truly made a difference for me by having that test available. I think everyone should know about this.”
Note:
*23andMe PGS Pharmacogenetics reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, 2 variants in the DPYD gene, and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva to report and interpret information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic and does not describe the association between detected variants and any specific therapeutic.
Our CYP2C19 Pharmacogenetics report provides certain information about variants associated with metabolism of some therapeutics and provides interpretive drug information regarding the potential effect of citalopram and clopidogrel therapy. Results for SLCO1B1 and DPYD and certain CYP2C19 results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For important information and limitations regarding Pharmacogenetics reports, visit 23andme.com/test-info/pharmacogenetics/
