You Have a 50/50 Chance of Passing a Cancer Gene to Your Child. What Would You Do?
Genetic testing can catch markers of disease before they’re transmitted to future generations — presenting some would-be parents with a difficult choice.
Caitlin Michelle is four months’ pregnant, and although she doesn’t know the sex of her baby yet, she says she thinks about it every day. Michelle is positive for BRCA, the so-called breast cancer gene, and there is a 50% chance she’ll pass it on — a serious risk if she gives birth to a girl.
“If I have a daughter,” she says, “I will probably think about it every day of her life.”
Michelle, a 32-year-old public health practitioner in Illinois, only learned she was BRCA-positive last year. The news upended her life plans to eventually have more children once she and her partner finished their doctoral programs and completed a cross-country move. Carriers of the BRCA variant often choose to have a preventative mastectomy and oophorectomy (removal of the ovaries) to decrease their chances of developing breast and ovarian cancers. The latter procedure eliminates the possibility of becoming pregnant. With BRCA, says Michelle, “our timeline for more kids suddenly moved up.”
Most adults with BRCA inherited the gene from a parent who didn’t know they had it. Widespread testing for cancer-risk genes, like BRCA and Lynch, and other genetic variations that increase the risk of Alzheimer’s and other cognitive conditions, autoimmune issues, and heart problems have only become available in the last two decades. Previously, a person might have been aware of their family’s tendency for certain conditions, but there was no way of knowing if they’d inherit them and certainly no way to prevent them from being passed to future generations. But with advances in personal genetics, people increasingly have the option to peek behind the curtain and take action to prevent these conditions from being passed on.
Deciding whether to take precautions to avoid passing on a genetic illness to future children is a personal decision but also one that has rippling consequences.
Now, knowing one’s genetic makeup may come with an ethical obligation to future generations to try to eliminate harmful conditions from the family line. In theory, genetic conditions with the potential to cause harm could be bred out of the human genome.
That doesn’t mean that will happen anytime soon. Emotions can run strong on the issue: Some say they’d go to any length to stop the family curse while others feel like it’s not their place to meddle in the recipe for life. Multiple parents and potential parents told Future Human that the decision to screen for these genes is shaped less by ethics and more by practicalities.
Making alterations to the genetic makeup of a child is both expensive and time-consuming. The main tool parents can use to avoid passing down monogenic conditions (those controlled by a single gene) is preimplantation genetic testing (PGT-M), a process that takes place alongside in vitro fertilization (IVF). In this process, embryos are screened for the genetic variant in question. Only the nonaffected embryos are chosen for implantation and, hopefully, a successful pregnancy. PGT-M is a new option, but it is increasing in popularity: According to a 2020 study, the number of PGT cycles increased from 13% of all assisted reproduction cycles in the U.S. in 2016 to 27% two years later.
Amy Jolly, a 26-year-old HR professional in Texas, just completed PGT-M to ensure her kids don’t inherit her BRCA. “The embryos are sitting on ice, waiting for us,” she says — Covid-19 has delayed things. The decision to screen wasn’t difficult, she says, but a conversation with her partner was necessary. “It’s not cheap, and it’s a lot more of a toll than getting pregnant naturally,” she says — a round of IVF and PGT-M is about $20,000 to $30,000. “But ultimately we wanted the best for our future children.” For guidance, Jolly looked to her own parents, who would have wanted to spare her of the condition if they’d had the chance. “I tried to kick in that maternal instinct before I’ve even had my kids, and that gave me the reason to do this,” she says.
Oliver Joseph, a 38-year-old rabbi from London, U.K., who is positive for BRCA also knew the risk would end with him. “I’ve seen breast cancer in action. For me, it was quite a painless choice,” says Joseph. His mother and younger sister both died from BRCA-related cancers, and his other sister suffered serious complications with her preventative mastectomy. He knows that his baby girl hasn’t inherited BRCA because he and his wife underwent IVF with PGT-M. “We did it because we didn’t want to have to explain the prospect of a mastectomy and oophorectomy to an 18-year-old daughter,” says Joseph.
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BRCA also raises cancer risk for men, and Joseph says that while he was primarily concerned with passing it on to a daughter, he wouldn’t want his sons to carry BRCA either: “It would just be repeating the same story, with more investigations and doctors’ appointments in the future, and then they could pass it on to a daughter. I won’t rely on my children to make those decisions — I’ve already made it for them.” In some ways, the decision has also been a healing experience for Joseph.
“There’s a kind of residual trauma in this. In many ways, this is also a way [for me] to avoid having to face cancer again,” says Joseph. “You don’t know what life is going to throw you, but with the testing that’s out there, we had a good shot at guarding against a return of cancer to our family.”
Being diagnosed with BRCA does not guarantee disease, but it elevates the risk of disease — and people may assess that risk differently based on their past experiences and personal situations. For some people, the desire to have a child is stronger than a future hypothetical, even if the concern is still there.
For Caitlin Jean, a 34-year-old teacher in Ohio who is a BRCA carrier, the cost of screening was prohibitive. “IVF with screening would have been $30,000 with no guarantee of having a baby in the end,” she says. “It just wasn’t feasible for us to go into that level of debt.” Jean had a baby daughter naturally and hopes to have another child. Her kids’ BRCA status will remain unknown until they’re adults and can choose to get tested, though she says she thinks about it, especially because her child is a girl. “I know how traumatic having this gene can be,” says Jean, whose mother died from cancer at age 36. She knows from experience that screenings take a toll, even in the absence of cancer.
If her children inherit her BRCA gene, Jean is hopeful they will understand why she made the choice that she did. “I think [they] would be sympathetic to the fact that unfortunately, in the United States, there’s just not a lot of financial support.”
Michelle had a similarly practical reason for choosing not to have PGT-M — she felt she didn’t have the time: “With my timeline for surgeries, we felt that this is what we had to do. You can go through screening and have no viable embryos and be back at square one. So we decided to leave it to chance.” But, Michelle says, “We’re really hoping that in 30 years from now, science will have improved.”
Using genetic testing to learn about the risks built into our DNA and even screen out conditions for future generations is still a relatively new concept. As such, most people don’t have a lot of experience thinking about it. “When I talk to families, it’s often the first time they’ve broached the topic. They may not have even thought about the fact they could pass this to their kids or that they could do something about it,” says Jason Flanagan, a reproductive health expert at the National Society of Genetic Counselors.
People don’t always opt for medical interventions once they find out they’re available. Flanagan says some people will simply pay their status no mind. “When people consider [genetic testing or an egg or sperm donor], it becomes less a question of science and much more a personal perspective,” says Flanagan. Put bluntly, if you’ve watched loved ones die from a genetic illness, you’re more likely to be motivated to stop it whereas if the effects you’ve seen have been milder or more remote, you’re more likely to be okay with passing it along. “But if cost wasn’t a concern, I think a lot more people would do PGT-M,” says Flanagan. (Access to the technology is also impacted by race: Black and Hispanic women are less likely to access IVF in general compared to white women, and Black BRCA carriers are already less likely to be offered risk-reducing measures such as surgery.)
“I’ve had a very full life, and I’ve been happy that my mom had me even though she was [unknowingly] BRCA positive,” says Theresa Johnston, a 37-year-old soil scientist from Illinois. Her mother and grandmother both passed away from BRCA-related cancers. Johnston has three children who she conceived naturally; IVF was out of the question because she didn’t want to be left with unused embryos. It would be wonderful if BRCA didn’t exist, she says, “But I’m not on board with trying to eliminate a gene from the population because, well, where would we stop?”
Similarly, neither Joanne Lisa, a 36-year-old charity worker from Warwickshire, U.K., nor her partner wanted to “pick and choose” which genes to give their children. “Some of it’s about perspective — there’s so many other health risks than cancer,” says Lisa, who has three boys. “There are so many other things [in our genes] that we don’t know about. If we start down the line of getting rid of everything, we’d never have kids!” Lisa says she has no regrets, and what’s important to her is that everyone in her family knows about their potential for BRCA so they can make informed decisions. “I’ve told my children about it in simple terms,” she says. “They know why their grandma died, and they know that mummy had surgery to reduce the chances of that happening to her.”
Still, she wonders: “Maybe the moral thing to do is to try and stop in its tracks so it doesn’t carry on down the family tree?”
Knowing what we know about why people still often choose not to screen, what does this indicate about the future of these conditions — will they stay with us forever?
The American College of Medical Genetics and Genomics, an organization that represents practitioners in the field of medical genetics, does not take a view on what people should do on the matter of screening out genetic conditions. “The first order of responsibility is to provide information so that patients can make decisions within their own values and customs,” says ACMG president Anthony Gregg. “There’s no underlying goal to direct patients on what they should and shouldn’t do.” However, he says, some genetic conditions that are more severe than increased adult cancer risk (such as Tay-Sachs, which leads to early childhood death) are increasingly becoming rare because people are more likely to take action to eliminate them.
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Ultimately, says Gregg, decision-making is individual and comes down to people’s circumstances: “What’s their family and support structure like? What are their financial resources? What are their cultural norms?” While Gregg is well aware of the societal argument for certain harmful genes being removed from the pool, he cautions against black-and-white thinking: “That would be similar to saying that the first, let’s say 30, 40, 50 years of a person’s life, before they manifest the symptoms of that autosomal dominant condition, that those years had no value to society. That would be short-sighted,” he says.
Gregg says that families often see the future of medicine as being very bright, enabling them to proceed in the hope that their children will have a better chance at mitigating the genetic condition. Others see that bright future as being here already in the form of genetic testing. That was the case for Shelley Harris, a 31-year-old chiropractor in Worcestershire, U.K., whose belief in science meant she decided to have PGT-M to avoid passing on her Lynch gene, which puts her at high risk of bowel and endometrial cancer, to her children. “I thought, I can stop Lynch for all the future generations of my family.”
Her daughter was born in autumn of 2020, and she has two more embryos “in the freezer” for later. Harris inherited the gene from her father: “We have the same dark hair and blue eyes.” She pauses. “My daughter looks like my dad too actually. Same blue eyes, and she even has his ears!” She laughs — there’s a strong genetic bond, but there’s one thing that Harris’ daughter didn’t inherit, and that is a lifetime of worrying about cancer. “Most of the time, we don’t have any control over our genes,” says Harris. “But I’m glad I was able to stand up to this.”