Eliminating the BRCA gene

  • Preimplantation genetic diagnosis is used with in vitro fertilization to select embryos that do not contain cells with genetic mutations such as BRCA, a breast cancer marker. GAZETTE STAFF / JERREY ROBERTS

  • GAZETTE STAFF / JERREY ROBERTS Tayyab Rahil, the director of Baystate Reproductive Medicine in Springfield, sits beside a micromanipulation system to perform embryo biopsies in a lab at Baystate Medical Center, Sept. 28, 2017.  GAZETTE STAFF / JERREY ROBERTS

  • Tayyab Rahil, the director of Baystate Reproductive Medicine in Springfield, demonstrates how to use a micromanipulation system to perform embryo biopsies in a lab at Baystate Medical Center, Sept. 28, 2017. GAZETTE STAFF / JERREY ROBERTS

  • Tayyab Rahil, the director of Baystate Reproductive Medicine in Springfield, works in his lab. This is where he watches embryos grow before they are tested for genetic mutations, like the BRCA gene. GAZETTE STAFF / JERREY ROBERTS

  • Tayyab Rahil, the director of Baystate’s in vitro fertilization lab, demonstrates how to use a micro manipulation system to perform embryo biopsies. GAZETTE STAFF / JERREY ROBERTS

Staff Writer​​​​​​
Published: 10/2/2017 4:51:23 PM

With a noninvasive procedure, women can choose not to pass on the BRCA gene mutation — a marker for breast cancer — to their children.

The technique is called preimplantation genetic diagnosis (PGD) and it is used with in vitro fertilization to select embryos that do not contain cells with genetic mutations such as BRCA mutations and markers for Huntington’s disease and other conditions. 

It’s been done throughout the country for over a decade, but only within the last four years did Baystate Medical Center in Springfield begin offering it due to the growing number of women inquiring about the procedure, says Dr. Kelly Lynch, the medical director of the In Vitro Fertilization Program at Baystate.

BRCA gene mutations affect about one percent of the population. There are two variations of the gene mutation, BRCA1 and BRCA2. 

About 55 to 65 percent of women who inherit a BRCA1 mutation and around 45 percent of women who inherit a BRCA2 mutation will develop breast cancer by age 70, according to the National Cancer Institute, the federal government’s principal agency for cancer research and training.

However, this gene mutation is responsible for only about 5 to 10 percent of allbreast cancers, according to the institute. 

“Not everyone with the BRCA gene is going to get cancer,” Lynch says, “but they have an increased risk, and they have a lifetime of worry and MRIs and biopsies.” So, for some, sparing their children that circumstance is a priority, she says.

So far, only four to five patients with the gene mutation have requested PGD at Baystate, says Lynch. 

Women who are at risk for carrying the BRCA gene, due to family history, first meet with a genetic counselor and then undergo testing to determine whether they have it.

If the results indicate they do, there are decisions to make about their future health. For those who plan to get pregnant, one may consider PGD, she says.

The procedure, which could cost between $6,000 and $12,000, is not always covered by insurance, so that could be a factor in going forward, Lynch says.

For those who decide to proceed, the next step is a gynecological work up — an examination of their ovaries and fallopian tubes — followed by injections that stimulates egg production. Typically the ovaries produce one egg during a cycle, but with treatment they might produce between 5 and 20, says Lynch.

The procedure entails removing the eggs via a needle that penetrates the vaginal wall. The eggs are then placed in a dish with a solution that mocks the environment of the womb. Sperm is introduced and embryos are formed, says Tayyab Rahil, the director of Baystate Reproductive Medicine in Springfield. 

Each embryo is held in place with some light suction while a laser slices off four to five cells which are sent to another lab out of state to be analyzed for genetic deformities. Though gender also can be determined at this stage, Baystate, for ethical reasons will not use in vitro fertilization for that purpose, he says.

All the embryos are frozen for a little more than a week while doctors await the test results. Only one healthy embryo is implanted in the uterus.

There are few risks and the pregnancy should be normal, he says. “It’s very empowering. I feel like I am helping people have a healthy family.”

Lisa Spear can be reached at Lspear@gazettenet.com.




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