By Amick B
“I was mostly interested out of concern for the health of the kids we plan to have together,” said Megan, a 21 year-old college student studying physiology. “Justin was curious because he’d been learning about the genome in class.”
Her husband Justin, who is 24, is studying bioinfomatics, and both of them are fascinated by science, particularly genetics.
When Megan and Justin first received their 23andMe results, they didn’t find anything of concern for the health of their future children, but they did find something important for Megan. Her 23andMe results alerted her to a risk she hadn’t known she had, and in turn it helped her work out a plan with her doctor to keep her healthy.
She learned that she was at risk for something calledvenous thromboembolism. The test revealed that Megan had what is sometimes referred to as “Factor V Leiden.” This is a variant in the F5 gene that causes a change in the protein sequence of factor V, which in turn affects clotting of the blood. The results showed that Megan was about three times more likely than average to developvenous thromboembolism or blood clots. The condition covers blood clots both in deep veins such as those in the legs, (deep vein thrombosis) as well as clots that break free and travel to the lungs (pulmonary embolism.)
While venous thromboembolism is serious, Megan saw the results more as an important and helpful warning than something to be afraid of. She read up on what it all meant and she talked to her doctor. Megan learned about the ways she could decrease her risk — for instance, staying away from cigarettes, maintaining a healthy weight and remembering to get up and move a bit on long flights. But for women there is one other important bit of information that caught Megan’s eye – the increased risk for clots whentaking oral contraceptives.
“I knew I could avoid the other risk factors, so I didn’t think taking the pill was anything to worry about,” said Megan. “But then I was in my pathophysiology class discussing the condition, and I became quite concerned.”
Megan’s teacher informed the class of a case of venous thromboembolism that had occurred the previous year in a young woman Megan’s age who’d been taking oral contraceptives.
“When I heard that story about a girl my age who was just like me – even a recent newlywed and student – it made it seem more dangerous to take the pill than I thought it would be,” she said.
Megan decided to call her doctor, and as soon as she mentioned the Factor V mutation her doctor immediately suggested that Megan switch to a progesterone-based pill that would put her at less of a risk for clots than the estrogen-based pill she had been taking.
“I was so relieved to hear that people even knew about the mutation,” said Megan. “I was even more relieved to hear that the solution was as simple as changing the prescription.”
Her 23andMe results were “a real blessing,” said Megan.
“I learned there were things I could do with the information I’d received to make sure I would be safe and healthy,” said Megan.
Megan and Justin are doing what they can to make sure the family they have together is safe and healthy too – they plan to start having children next year.
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.