Looking back on it all now, it’s surprising for Laura to see how it happened so fast, and how lucky she’d been.
And none of it would have occurred if her best friend hadn’t off-handedly suggested she use 23andMe.
“I thought it’d be fun and maybe we’d find out that we were distant relatives,” said Laura, a 48-year-old mother of two teens.
Editor’s Note: We’ve talked to hundreds of people about what they did ‘after the click,’ after they opened up a report and learned about an unknown risk for breast cancer, or lung and liver disease, or cardiac and neurological issues.
Most often, the response isn’t one of fear but empowerment.
Suddenly they and their doctor have the information they can use to follow up on a risk in order to prevent or treat a serious illness. And this is often for risks they wouldn’t have known of otherwise.
Here is the second in an occasional series about customers who were empowered to take action after learning of a serious health risk through 23andMe.
If she hadn’t used 23andMe, if she hadn’t been curious and simply open to knowing a little more about herself, Laura said she would likely still be walking around blissfully unaware of the looming risk.
“Knowledge truly is power,” said Laura. You just have to be open to it and ready to act on it.
Even though it started on a lark, Laura recalls a moment during the process of ordering the 23andMe Health + Ancestry Service when she paused. As part of the intake, customers are asked if they understand they might learn something about their ancestry or their health that they may not want to know.
“After all, you can’t un-know something,” Laura said.
She thought about it and decided she wanted to know.
After sealing up her sample to send it in, she marveled for a moment about the science of it all, and the fact that from a little bit of saliva she could learn about her ancestral heritage, connections to close and distant relatives, and about her health.
Being able to do all that from a bit of spit was amazing, Laura said.
There it Is
Three weeks later Laura got a message that her reports were ready for viewing. She sat down at her computer, signed in, and then navigated to her health reports. After opting to view her results and then going through short tutorials and additional opt-in, she opened her BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report.* It changed her world forever.
“There it was. (one variant detected in) BRCA2 (gene). I knew what that was,” she said.
She knew what it meant. She knew having one of the risk variants in the BRCA2 gene was serious, but she also felt empowered by the knowledge. Instead of triggering dread, after clicking on her report and learning of her genetic risk, the information sparked action. Laura contacted her doctor and her OBGYN. What followed were discussions with her husband and her family. Then confirmatory tests, and discussions with her doctor and a genetic counselor, followed by some very big decisions.
But she knew what she had to do.
“I did the research. I read the numbers. They weren’t good,” she said.
Because she was over 45, the recommendations to substantially lower her risk were for the removal of her fallopian tubes and both ovaries and for her to consider the option of a double mastectomy. All of this was confirmed and scheduled within just four months of first opening her report.
“As a mother, wife, sister, daughter, and friend I have too much to live for. Too many people who count on me,” Laura said. “I have more to accomplish. More life to live. More adventures to take. I need to be here to watch my children grow up. I haven’t seen enough yet.”
In talking about her decision, Laura said she remembered being moved by an opinion piece in the New York Times from a prominent actress from almost a decade ago. In the piece, the actress revealed she’d undergone a double prophylactic mastectomy after learning she had a BRCA mutation that put her at increased risk for breast and ovarian cancer. The actress’s mother had died of ovarian cancer, as had her aunt, and her public disclosure brought into sharp focus for many the risk of certain BRCA variants and the need for better screening.
That story stuck with Laura.
And then there was one other thing that solidified for Laura that this was the right decision. It happened in the run-up to her surgery that was scheduled in July of 2021. In the pre-op testing, she underwent a breast MRI, and during the scan, they saw something suspicious. A biopsy revealed that Laura didn’t just have an increased risk for cancer, she had cancer.
“It is the call that nobody thinks they will ever get. It is the call that you are never prepared for. CANCER,” she said.
She already knew she was getting surgery done so it didn’t change what she was going to do, but it made it all more real. And perhaps even more impactful was the feeling that she, by chance, dodged a bullet.
“23andMe quite possibly saved my life,” she said.
Slipping through the Cracks
In talking to her doctor they both thought that the cancer had been so small that it likely wouldn’t have been picked up in her annual mammogram. She might not have known until it progressed to a much later stage when it would have been much harder to treat.
“I might not have ever known and then it would have been a much different outcome,” she said.
Laura’s story isn’t so unusual. Indeed, like Laura, many people who carry a BRCA risk variant are unaware of it until they’re diagnosed with cancer. Many don’t qualify for traditional clinical genetic testing, which centers on whether there is a personal or family history of cancer. In some cases, having Ashkenazi Jewish ancestry is also a criterion. Although Laura knew of her ancestry, many people don’t know that they have Ashkenazi ancestry or they don’t understand the significance of genetic ancestry to their health.
In a study published two years ago in the journal Scientific Reports, 23andMe researchers found that many people with a BRCA variant are likely slipping through the cracks under current testing criteria. Another study by researchers at Geisinger reported that more than 80 percent of people with a BRCA variant did not know they have one.
More about BRCA
The 23andMe study found that about 44 percent of individuals who provided both ancestry and family health history information had no first-degree relative with a BRCA-related cancer. The researchers also found that 21 percent of individuals who had one of the three Ashkenazi Jewish BRCA1 or BRCA2 founder variants did not report having Jewish ancestry, but more than half did have detectable Ashkenazi genetic ancestry.
In the absence of a personal history of cancer, these individuals would have been unlikely to qualify for clinical genetic testing and would have been left unaware of their risk, according to the study.
While 23andMe’s BRCA1/BRCA2 (Selected Variants) Genetic Health Risk Report,* only looks at three variants of the more than 1,000 BRCA variants known to convey risk, they are among the most studied. The prevalence of these three variants is about 1 in 40 in people of Ashkenazi Jewish descent. In the general population, about 1 in 300 to 1 in 800 individuals has a BRCA variant, although typically not one of the three variants included in 23andMe’s report. Women with a BRCA variant have a 45-85 percent chance of developing breast cancer and up to a 46 percent chance of developing ovarian cancer by age 70. Men with a BRCA variant have an increased risk for male breast cancer and may have an increased risk for prostate cancer. Risk for certain other cancers may also be increased. (Here’s more about BRCA.)
Knowledge is Power
But what happens when someone using 23andMe discovers an unexpected BRCA finding? 23andMe conducted a small study to look at that and found that those who learned they carried a risk variant generally took appropriate actions, talking to their doctors, and sharing their results with family and friends to ensure that they were aware of the potential inherited risk.
This was Laura’s experience.
She shared her story in part because she knows there are others like her out there.
“Knowledge truly is power,” she said. “Finding out I am BRCA positive gave me the chance to change my destiny… I know there must be others out there walking around in blissful ignorance like I was.”
Read More on BRCA:
*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, including the 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants). Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. The test is not intended to diagnose any disease and does not describe a person’s overall risk of developing any type of cancer. It 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 treatments. Warnings & Limitations: The 23andMe PGS Genetic Health RIsk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. The report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The three variants included in this report are most common in people of Ashkenazi Jewish descent and do not represent the majority of BRCA1/BRCA2 variants in the general population. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action.