Reading between the lines: How genetic testing is helping improve early cancer detection and prevention
In honor of World Cancer Day, we are proud to share the story of Ashley Liffers, a Massachusetts-based woman who is encouraging others to learn more about their predisposition to cancer, after her preventive genetic testing revealed a BRCA2 gene mutation. This story originally appeared in the Boston Globe as part of content partnership.
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You probably know someone just like Ashley Liffers. She’s a 37-year-old woman living in the suburbs of Boston with her husband and two young children. She works for a pharmaceutical company, and in her free time she enjoys running marathons and spending time with her family and friends. But recently, Ashley made an unsettling discovery – despite her healthy lifestyle, she carries the BRCA2 gene mutation, which would’ve gone undetected without genetic testing.
In December 2023, Ashley enrolled in the WISDOM study after some encouragement from her doctor given her maternal family history of breast cancer. After completing an at-home genetic testing kit in February of 2024, Ashley got the news within weeks that turned her world upside down.
“This has probably been the hardest six months of my life so far,” she said. “I have so many different feelings all the time; I’m scared because it’s scary; I feel guilty because I get to make decisions to help reduce my risk and a lot of people never get that opportunity; and I’m empowered by having this information, because not only can I undergo screenings and risk-reducing surgeries, I can make lifestyle changes too.”
The use of genetic testing for early cancer detection and prevention has increased in the last two decades, as technological innovations and clinical research have improved testing capabilities. And as incidences of cancer continue to rise, especially in younger adults, health care leaders are speaking up about how critical these genetic screening tools are for the health of our population.
Using the past to chart the future
The use and advancement of genetic testing was arguably made possible by the completion of the Human Genome Project in 2003, a 13-year international study that resulted in the first sequence of the human genome. Since then, the National Center for Biotechnology Information (NCBI) and the the National Institutes of Health (NIH) created the Genetic Testing Registry (GTR) to “increase access to detailed information about each existing genetic test, standardized laboratory and test-specific information, and to help health care providers make informed decisions about test orders.”
Today, predictive genetic testing – a type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer – is one of the most common screening tools available. According to the American Cancer Society, a person might speak to their doctor about this option if their family history suggests that a cancer may be inherited or if cancer is diagnosed at a young age.
With the advancements in genetic testing, so too have innovations in early cancer screenings. One such test, GRAIL’s groundbreaking Galleri® multi-cancer early detection screening test, uses a simple blood draw to detect a shared cancer signal across more than 50 types of cancer, even before a patient has exhibited any symptoms. What’s more, more than 45 of the diseases screened by the Galleri test lack recommended screening tests today.
Navigating the genetic testing landscape
Regardless of what your genetic journey looks like, both the experts and Ashley recommend starting with a genetic counselor. “Looking back, I really wish I had done genetic testing differently, with a genetic counselor rather than through a study,” said Ashley. “I really think having a support team already in place makes a difference, and having a counselor to walk you through the results and risks is important.”
These specially trained health professionals act as your guide throughout your genetic testing process, even if you elect not to go through with testing. Most importantly, they will also discuss how learning about potential genetic risks might impact your emotions, mental health, and family.
After results, what comes next?
“I haven’t known what, if anything to tell people. I keep saying that I am not sick, but I got life altering information and it’s been a lot to process,” Ashley said. “The friends and family I have told have been amazing, and I know I’ll have to tell more people when after my surgeries, and I’m still working on how to do that.”
After the initial shock of Ashley’s results, she made an appointment at the Dana Farber Cancer Institute Cancer Genetics and Prevention Clinic with a genetic counselor and oncologist. After completing a second round of genetic testing to confirm her results in summer 2024, Ashley and her doctors started to formulate a plan.
She first enrolled in the WISP trial at Dana Farber, which will involved a laparoscopic surgical procedure in hopes of preventing ovarian cancer while delaying early menopause for a longer time. Her next and biggest step will take place in early 2025, when she undergoes a bilateral mastectomy, reconstructive surgery, and fallopian tube removal.
Even after having her world flipped upside down, Ashley still urges others to do genetic testing if they can. “What I realized is that the knowledge you gain from genetic testing gives you time. Time to really know your options and decide what is best for you.”