Lauren Corduck is riding up in the elevator at Massachusetts General Hospital, territory she knows well now that she's on her sixth course of cancer treatment there. It has included two courses of chemotherapy, radiation to attack a brain tumor that cost her a piece of her vision and more.
Now, she's coming in to get a port put into her upper chest for easy access to the new cocktail of chemotherapy she's about to begin. As she waits in a wheelchair, she reflects that coping with advanced ovarian cancer for the last two and a half years has been devastating, "and continues to be devastating, and really grueling for me and my loved ones."
And it could almost certainly have been prevented — if she'd had her DNA tested in time and had her ovaries and fallopian tubes removed.
So she welcomes an influential national panel's new recommendations on BRCA gene mutations, which convey an unusually high risk of cancer. The panel of experts says that Ashkenazi Jewish ancestry — meaning Jewish forebears from Eastern Europe — is enough to consider genetic testing for BRCA mutations, even without a known family history of cancer.
"It's really primary care physicians and gynecologists that need to be educated on this matter so that they start identifying their patients who are at this heightened risk," Corduck says. "Asking the simple question: 'Do you have Eastern European Jewish ancestry?' will save so many lives."
Corduck helped found the national nonprofit Oneinforty, so named because Ashkenazi Jews have a one-in-40 chance of carrying the high-risk BRCA mutations. That's roughly 10 times higher than the general population.
Corduck's father's mother died at age 56 of breast cancer. Her father's sister got breast cancer as well, but he was never told to get genetic testing, even though men can pass on the gene and are at higher risk for cancers, including male breast cancer and prostate cancer.
"So he didn't know that he carries this," she says. "So he didn't know that I had a 50% chance of inheriting it from him."
About four years ago, a cancer-survivor friend persuaded Corduck to get tested for BRCA mutations. The news was bad. She faced an up to 60% risk of ovarian cancer, which has no screening test for early detection, and up to 85% risk of breast cancer, she says. BRCA-positive women get enhanced screening like breast MRIs; some opt for surgery.
"I was scared," Corduck recalls, "and I just said, 'I need to do this, I need to face these choices, to save myself and and to be here to watch our school-age kids grow up.' "
But it was too late.
Severe back pain she'd been having turned out to be a result of advanced ovarian cancer. During her first round of chemo, the idea came to her to use her background in nonprofit work to create an organization that could raise awareness about BRCA mutations and advocate.
It asks people at higher risk to seriously consider testing. It can be scary, Corduck says, but "I can share from personal experience that it's infinitely more life-altering to hear the words from your doctor, 'You have cancer.' "
The new recommendations on BRCA risk assessment, genetic counseling and testing come from the U.S. Preventive Services Task Force (USPSTF), which evaluates the evidence for medical practices.
"This is a milestone," says Dr. Huma Q. Rana, clinical director of cancer genetics and prevention at Dana-Farber Cancer Institute, "in the sense that there's now a clear recognition of the fact that — among individuals of Ashkenazi Jewish descent — the prevalence of BRCA 1 or BRCA 2 mutations is high enough [that the ancestry] in and of itself, warrants genetic evaluation."
But it's no surprise to people in the field.
"We've been beating the drum on this for a while," Rana says, "and it's nice to have the USPSTF endorsement of this thing that we've already known about."
But there also can be barriers to testing, from cost (it may not be covered by insurance) to fears that a positive result could get in the way of life insurance.
Dr. Rana is involved in a study here in Massachusetts and elsewhere called BFOR, that lets people of Ashkenazi Jewish descent get tested for the BRCA gene mutations for free. But people don't seem to be jumping at the chance.
"The accrual for it has been slower than we'd all imagined," she says. "So that means that there's more to this."
There are also high-risk groups beyond Ashkenazi Jews, says Dr. Judy Garber, a medical oncologist at Dana-Farber. They include some French Canadians, "and many populations in the world have small groups who have an increased risk. Some Caribbean populations also can be included in that list."
Garber says the new set of recommendations is important because it guides how doctors practice medicine.
"And it says that health care providers across the board have a responsibility for understanding that patients may be at risk," she says. "And for helping them decide when they're ready to learn about that risk, and then managing that risk with them."
Sons and daughters of BRCA-positive fathers and mothers each have a 50% chance of testing positive themselves.
Lauren Corduck and her husband Robb have a daughter. "It is our hope that she'll be tested," Corduck says. "And we'll be able to support her through that process."
This segment aired on August 21, 2019.