A Long Island nurse knew she had an increased risk of cancer. Thanks to IVF genetic testing, her child won't have the same fear.
A Long Island nurse is sharing a message of action in the face of a frightening genetic finding.
She learned she was positive for the BRCA mutation, which increases the risk of cancers, but she took bold steps to stop it from being passed on, thanks to advances in science.
"It was a weight lifted off my shoulder"
Melanie Cohen always feared she had the BRCA mutation. Her grandmother battled breast, ovarian and pancreatic cancer, and her aunt died from breast cancer.
At age 22, her fears were confirmed. The mutation had been passed on via her father.
She underwent a risk-reducing double mastectomy, and when she and her husband wanted to expand their family, she took another step.
Through in vitro fertilization, their embryos were screened using preimplantation genetic testing, and a BRCA-negative embryo was selected for implantation.
"I can have a family of all BRCA-negative babies, which is amazing," Melanie Cohen said. "It was a weight lifted off my shoulder, I think. I knew my whole life my entire family was dealing with cancer."
"It's unbelievable. I had no idea that this was even an availability to us, and to find out that we had this amazing option, we definitely ran for it and took it," said Melanie's husband, Dylan Cohen.
"My children will not have to deal with the fear that I dealt with. They will go on with generations of BRCA-free, not worrying about cancer in their family," Melanie Cohen said.
Doctors able to test embryos for hundreds of genetic diseases
"The BRCA mutation, in this case, is able to be detected before the parent gets pregnant," said Dr. Christine Mullin, with the Northwell IVF and Fertility Program.
Mullin says the science is not new, but its applications are growing.
"When we first started this, we were only able to test, like, three genetic diseases, and now we're over 400 genetic diseases that we can test," she said.
Preimplantation genetic testing is not always covered by insurance. It was in the Cohens' case.
Mullin also says not all brand-new embryos survive the testing, and sometimes none will be mutation-free, so couples may face ethical challenges.
But the Cohens call the science a gift. Without the testing, their baby would have had a 50/50 chance of inheriting BRCA.
"It is amazing just being able to not pass this on to future children and their future children," Melanie Cohen said.
The Cohens have three more embryos that are BRCA-free when they are ready for their family to grow.