Claudia didn’t know she was an “Alpha,” as people with her condition sometimes call themselves.
For years, decades really, she didn’t know why she was susceptible to sinus infections, bronchitis, and periodic bouts with pneumonia. Neither did her doctors.
The response isn’t one of fear but empowerment.
Suddenly they and their doctor have information they can use to flag a risk to prevent or treat a serious condition. And this is too often for risks they wouldn’t have known of otherwise. As one customer said: “You know, it kind of makes you think like, ‘Oh, I wish I just had it for so many other things.”
Here is the first in an occasional series about customers who were empowered to take action after learning of a serious health risk through 23andMe.
In fact, at one point after suffering from shortness of breath, she went in for several tests, but her doctor thought she was focused on the wrong thing.
“He said maybe I needed to exercise more because he couldn’t find anything wrong with me,” Claudia said.
Unraveling a Mystery
Beyond the frustration, these interactions left her with self-doubt. Was this all just in her head?
But what Claudia and her doctors didn’t know was that it wasn’t just in her head; it was something lurking in her genome linked to alpha-1 antitrypsin deficiency (AATD). Not well known, the condition decreases levels of the alpha-1 antitrypsin protein, which can lead to damage to the lungs and liver. It’s also notoriously hard to diagnose. In Claudia’s case, it took nearly 30 years.
It wasn’t until she clicked on her 23andMe Alpha-1 Antitrypsin Deficiency Genetic Health Risk Report* that her symptoms started to make sense. Claudia learned she had two copies of the PI*Z variant in the SERPINA1 gene, putting her at a higher risk for developing lung and liver disease related to AATD. That variant and another, PI*S, account for more than 95 percent of the cases of AATD.
“I looked at my report and then asked my pulmonary doctor to test for AATD,” she said.
That led to her diagnosis and then treatment for the sometimes-debilitating condition.
We wrote about Claudia not too long ago. But we wanted to look at her story again in the context of new data from a recent study that found that her case is not so unusual for people with AATD. In fact, there are some parallels with several other conditions in which a genetic variant confers an increased likelihood of developing a serious disease. As in Claudia’s case, genetic testing can alert those who carry this pathogenic variant of this unknown risk. That in turn can help individuals with a risk of an under-recognized but treatable condition like AATD work with their doctor to treat or prevent serious illness.
The study found that more than a quarter, 27 percent, of those in our study who were diagnosed with AATD only got their diagnosis after becoming aware of the risk through genetic testing from 23andMe. The study, which included 195,000 individuals, including more than 1,450 with AATD, also found that among those newly diagnosed with AATD, the gap between when they first noticed symptoms and diagnosis was more than 20 years.
In an unpublished follow-up qualitative research done with some of the study participants, many said that learning of their risk of AATD, and then sharing that information with their doctor, offered the kind of actionable information they needed to better manage their health. More than half of those with the most serious variants shared their reports with their doctors.
One of those who participated in the study said:
“[My pulmonologist] said, probably if I had not done [23andMe], 10 years down the road, he would have been seeing me with some really disabling disease… I’m really grateful that I found out about it, and that I can do something about it.”
Beyond just getting treatment, going through the report also led to some individuals making healthy behavioral changes, like exercising more or giving up smoking or drinking.
That’s what happened with Claudia.
Although she’d quit smoking before being tested and never drank much, after learning of her risk, Claudia tried to minimize her exposure to things like chemical smells or smoke that might trigger breathing issues. She stopped using aromatic candles for instance, as well as aerosols and harsh cleaning products. Now she pays attention to the air quality whenever she is planning on doing outdoor activities. But Claudia also wonders how things might have played out if she’d learned 30 years ago that she had Alpha 1.
“If I had known these things when I first started showing symptoms over 30 years ago… I could have possibly taken more precautions that would have helped with the several bouts of pneumonia I had,” Claudia said.
Knowledge is Power
Now she takes a low dose antibiotic and uses extra precautions if she gets a cold as a way to stave off coming down with pneumonia. She’s been that much more diligent about protecting herself during the pandemic. And, because genetics plays a role in the risk for the condition, she talked to her children, who all got tested. Fortunately, none of them were found to have Alpha 1.
But perhaps most impactful for Claudia is the power of knowing.
“The other thing about finally finding out that I had AATD was being able to access knowledge I did not have before, which if for no other reason gave me an answer to why I couldn’t go up the stairs without being out of breath,” she said recently. “That knowledge was huge for me. I see my pulmonary doctor regularly now and have liver tests yearly. I’m in my late 60s and hopefully, I will never need to go on oxygen or have augmentation, but if I do, I’ll know to be prepared and understand the reason for it.”
*The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. The Alpha-1 Antitrypsin (AAT) Deficiency genetic health risk report is indicated for reporting of the PI*Z and PI*S variants in the SERPINA1 gene and describes if a person has variants associated with AAT deficiency and a higher risk for lung and liver disease. The variants included in this report are most common and best studied in people of European descent.