“I just wish someone had told me this was a possibility.”

Kara Maxwell distinctly remembers the moment she heard those words eight years ago from the mother of a child with Fanconi anaemia (FA). Maxwell met her at a conference focused on the rare, recessive genetic bone marrow disorder that causes myriad medical challenges, including childhood cancer. While survival is improving, the average lifespan for FA is currently only 20 to 30 years.

FA is an inherited disorder that can happen when both parents carry mutations in certain genes associated with cancer risk, including BRCA1 or BRCA2. The woman that Maxwell met was a BRCA2 gene mutation carrier. She told Maxwell that she wouldn’t have changed anything about her pregnancy, but she just wished she’d been made aware of the fact that—in addition to personal cancer risks and the potential of passing down a gene mutation to their children—BRCA gene mutations can also create entirely new genetic issues if two carriers have a child together.

“If one of my patients is already dealing with the difficult news of learning they’re a BRCA mutation carrier, I don’t ever want them to be surprised by having a child with an even more difficult diagnosis,” Maxwell says.

The risk is rare and nuanced. It takes a geneticist or a licensed genetic counsellor to unravel and explain the probabilities. But, until recently, professionals did not have a comprehensive tool to reference for such discussions. In November, Maxwell, an assistant professor of hematology-oncology and genetics at the Perelman School of Medicine, and her team published a resource for genetic professionals to help counsel individuals with cancer-related genetic mutations, like BRCA1/2, about reproductive risks. BRCA genes are among the most well-known genes linked to hereditary cancer risk. An individual with a mutation in the BRCA1 or BRCA2 gene has an increased lifetime risk of developing breast, ovarian, pancreatic, or advanced prostate cancer. These gene mutations are passed down through families. Men and women of all races and ethnicities can have a BRCA gene mutation, though they’re most common among certain groups, notably those of Ashkenazi Jewish ancestry.

“Everyone should take stock of their family cancer history and talk to their doctor to find out if genetic testing is recommended,” says Susan Domchek, executive director of the Basser Center for BRCA at Penn Medicine. “If someone receives genetic testing and learns that they carry a cancer gene mutation, it may also have a major impact on their reproductive decision making.”

Read more at Penn Medicine News.