If you or your partner has a mutation for an autosomal dominant condition, like Huntington disease or Marfan syndrome, you may want to consider preimplantation genetic testing (PGT) for single gene disorders. It can be difficult to know how to talk to your partner about PGT, or how to have difficult conversations about genetic diseases and the risk of passing them onto your future children.
Genetic counselors can play a key role in helping couples through these discussions and can facilitate decision-making. Serena Talcott Baughman, a genetic counselor at Oregon Reproductive Medicine, says there are two types of couples who consider PGT: The first are those who have known about their disease for years and will use IVF with PGT to try to conceive a healthy baby; the second group includes couples who are already struggling with infertility who learn that there is an increased risk of passing on a genetic disease during their treatment.
Couples with infertility are initially focused on the likelihood of having a baby at all. Partners may react differently to the idea of selecting embryos based on their propensity to carry a genetic disease. “If that is a struggle for one or both of the partners, it can be important that they have access to somebody who can help them understand the process and their options,” Talcott Baughman explains.
It’s important for partners to talk about PGT because a number of different factors can influence their decision. Couples who learn about the risk of passing on the disease during treatment may be less prepared to make decisions about PGT because they haven’t had as much time to consider all their options.
At times, there are conflicting feelings about the specific disease — the affected partner may not want to pursue PGT for because their own life has been fulfilling or the unaffected partner may be more resistant. “Either scenario can make decision-making very difficult,” Talcott Baughman says. “There are already so many variables to consider with [PGT] – cost, timeline, complexity of developing a test – that when the disease itself is at the center of the conversation things can get more personal.” The larger family history of the disease, including the number of family members affected, age of onset, and the severity of the condition can also influence how a couple moves forward with PGT.
The logistics of PGT can also enter the discussion, including timing and cost. In one particular case, according to Talcott Baughman, a woman with a hereditary cancer syndrome couldn’t agree with her husband on whether or not to proceed with PGT because the logistics of testing relatives proved difficult. The woman was ready to suspend testing, while her husband wanted to go continue with the process — he wanted to know that they had done everything possible to mitigate the risk of cancer in their future children.
Genetic Counselors and Their Role in the Conversation
It can be hard to talk to your partner about PGT, and genetic counselors can guide couples on how to have difficult conversations by creating a space for them to meet face-to-face and move past any barriers. In the case of the couple referred to previously, a genetic counselor was able to help them work through their differing opinions on PGT-related logistics, and there was a happy ending: the couple’s babies were born after a successful IVF/PGT cycle.
Talcott Baughman notes that sometimes the role of the genetic counselor is to identify other resources for the couple. This can include a session with a psychologist who specializes in fertility to provide a space to talk through the couple’s concerns. Or, it could be a physician who specializes in the disease. “It can be very helpful to find a specialist who can think outside the box and talk about the disease in a hypothetical child who isn’t there in front of them,” she says. “But understanding the disease, treatment, and prognosis are critical aspects of the [PGT] decision-making process.”
Moving Forward Together
A 2017 study published in Fertility and Sterility found that patients considering PGT had a positive experience when they consulted with a genetic counselor prior to their IVF cycle. The vast majority say that the consultation was informative, that their biggest concerns were addressed, and that they would recommend it to others.
Sometimes, couples decide not to do PGT after consulting with a specialist — they end up feeling like they have both the support and resources necessary to raise a child with the condition in question.
Regardless of the situation, no couple has to go it alone, and talking with a genetic counselor is often an important step in the decision to do PGT.
Kristine Crane is a freelance writer based in Gainesville, Florida. She was previously a health reporter at U.S. News & World Report. She won the Sunshine State Award for health reporting in Florida in 2014. She holds a Master’s in science reporting from the Columbia School of Journalism and a Masters of Fine Arts in writing from Pacific University.