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Prenatal testing helps detect a mother's cancer risk
Last reviewed: 02.07.2025
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Harmful variants of the BRCA1 gene significantly increase the risk of developing breast, ovarian and pancreatic cancers during life, but most people do not know they carry them.
In a new study published in the American Journal of Obstetrics and Gynecology, researchers from Weill Cornell Medicine, Columbia University Irving Medical Center (CUIMC), and NewYork-Presbyterian examined the feasibility of incorporating BRCA1 testing into prenatal screening for carriers. The researchers found that such an approach is not only cost-effective, but can also identify people at increased risk at a time when cancer screening and other preventive strategies could save their lives.
Important point for testing mothers
People who inherit a BRCA1 gene variant have several options to reduce their cancer risk, such as enhanced screening and surgery. However, most patients only learn they are BRCA1 carriers after they have already been diagnosed with cancer. One challenge is finding the time when genetic testing will have the greatest impact. Pregnancy and obstetric care may offer a unique window for screening and identifying patients before they develop cancer.
“Many patients see their pediatrician as children, but when they become young adults, the next doctor they see may be their OB/GYN when they are pregnant,” said Dr. Shayan Dioun, a member of the Herbert Irving Comprehensive Cancer Center (HICCC), associate professor of obstetrics and gynecology at Columbia University Irving Medical Center (CUIMC), and first author of the paper.
"Antenatal carrier screening includes genetic testing that is primarily performed to identify mutations that affect the fetus or pregnancy, but it also provides a convenient time for testing mothers."
Modeling study demonstrates cost-effectiveness of BRCA1 testing during obstetric care
The study modeled the clinical trajectory of a hypothetical cohort of 1,429,074 pregnant patients who might have received BRCA1 testing in the United States if it had been added to prenatal carrier screening. This number of patients was chosen based on previous research showing that 39 percent of pregnant patients undergo expanded carrier screening.
The model started with patients at age 33, based on the average age of prenatal carrier testing in the United States, and followed them until age 80, tracking the primary outcome of cost-effectiveness of BRCA1 testing during prenatal carrier testing, as well as secondary outcomes such as BRCA1 mutation positivity, cancer cases, cancer deaths, and direct medical costs.
The team found that adding BRCA1 testing resulted in the identification of an additional 3,716 BRCA1-positive patients, preventing 1,394 cases of breast and ovarian cancer, and 1,084 deaths. Compared with no BRCA1 testing, adding BRCA1 to prenatal carrier screening was cost-effective, with an incremental cost-effectiveness ratio of $86,001 per quality-adjusted life year gained.
“People often have a fatalistic attitude about cancer genetics and believe that simply knowing they have a genetic risk or predisposition to developing cancer is a sign that they will definitely get and die from the disease,” said Dr. Melissa Frey, co-director of the Genetics and Personalized Cancer Prevention Program and associate professor of obstetrics and gynecology at Weill Cornell Medicine.
“It’s critical to understand that using cancer genetics to understand a person’s lifetime risk of developing cancer does not increase that person’s risk — instead, it gives health care professionals the tools they need to prevent cancer and save lives,” said Dr. Frey, who is also the paper’s senior author and a gynecologic oncologist at NewYork-Presbyterian/Weill Cornell Medical Center.
Expansion beyond BRCA1
Although they only looked at BRCA1, the researchers believe that adding other hereditary cancer genes during prenatal screening for carriers — such as BRCA2, RAD51C, RAD51D, BRIP1, and PALB2 — could also be cost-effective. Dr. Dioun notes that typical panels provided to patients at Columbia University’s gynecologic oncology clinics look for mutations in more than 70 genes.
“For genetics companies, there’s a minimal increase in cost to add additional genes,” said Dr. Dioun, who is also a gynecologic oncologist at NewYork-Presbyterian/Columbia University Irving Medical Center. “I would expect there to be an even greater benefit if all of these genes were integrated. We could identify people with other mutations and potentially prevent them from developing other cancers.”
Currently, no prenatal carrier screening panel on the market includes BRCA1 or other hereditary breast and ovarian cancer genes. Drs. Dioun and Frey are in talks with genetics companies about including these genes in their products for women who are pregnant or planning to become pregnant.
The researchers hope to then initiate a prospective clinical trial to demonstrate feasibility and gather feedback from both patients and doctors about the process.