Fertility science has seen major leaps in progress, to the point that parents with a history of hereditary cancers in the family now have a chance at eliminating these risks from their future generations entirely.
Preimplantation genetic testing (PGT) isn’t a new technology—the procedure has helped IVF patients screen embryos for serious inherited disorders like cystic fibrosis, Huntington’s disease, muscular dystrophy, and hereditary cancers, too—but it’s rarely explored by patients outside of infertility treatment due to lack of awareness.
The reality is that IVF isn’t just available for parents who need help conceiving. IVF with PGT is an option for anyone who’s family planning and wants to reduce the risk of passing on a mutation they’re carrying, say BRCA1 or 2, to their children.
To learn more about how it all works, we spoke with renowned reproductive geneticist Mandy Katz-Jaffe, PhD, who is the scientific and genetics director at CCRM, (Colorado Center for Reproductive Medicine), one of the leading fertility centers in the U.S. with locations in over 10 major cities. Dr. Katz-Jaffe leads an in-house team of seasoned molecular genetic scientists at CCRM’s Hereditary Cancer and Disease Prevention Lab, who focus on helping families bring healthy, cancer-free babies into the world. Read on to find out how.
mbg: What is PGT exactly?
Dr. Katz-Jaffe: Preimplantation genetic testing is performed in conjunction with in vitro fertilization (IVF) to determine if an inherited cancer mutation has been passed on to an embryo. The procedure involves removing a few cells from a five- or six-day old embryo, known as a blastocyst, and screening for the mutation.
When we get the results, the family can then choose to move along in the process and try for a pregnancy with the unaffected cancer mutation-free embryos, or store them for future use. To be clear, the process does not involve genetically modifying human embryos in any way.
There are hundreds of genetic mutations that can lead to cancer, including breast and prostate cancer, and anyone carrying a cancer gene mutation has a 50 percent risk of passing it on to their children. Our lab provides prospective parents who have a known history of inherited cancers with in-house, state-of-the-art genetic testing via PGT.
Do all fertility centers offer PGT, in case a couple wants to screen for certain genetic disorders? And do all PGT tests screen for cancer mutations?
Typically, fertility clinics outsource PGT services to third-party laboratories. CCRM is the only fertility center in the U.S. with its own dedicated, internal genetics lab offering in-house PGT for inherited cancer mutations.
What cancers can the testing screen for?
PGT can screen for any known familial cancer, from ovarian cancer to colon cancer to skin cancer. There are dozens of cancer genes identified to-date. (See a sample list here.)
Can couples with a family history of cancer start the process, even if they’re not ready to start a family?
Yes, PGT is a wonderful option for any couple carrying a cancer gene mutation who want to have a baby today or one day in the future. Since IVF is needed to create, identify, and then—at some point—transfer an unaffected, cancer mutation-free embryo into the uterus, if a couple wants to pursue PGT, they can start this process at any time.
Anyone carrying a cancer mutation has a 50 percent risk of passing it on to their children.
What if you’re ready to grow your family, but you don’t know if you carry any cancer gene mutations?
Typically individuals who have a history of early onset cancers in their families are considered at risk to carry a cancer gene mutation. If that’s the case for you, reach out to your family oncologist or primary physician to order the cancer gene testing so you know for sure as you start family planning.
Does IVF cost more with PGT?
There is a small additional cost for PGT on top of IVF.
How long does it take to get the PGT results?
It takes a week for the embryos to grow in the laboratory and reach the blastocyst stage. Then it takes approximately two weeks after that for the embryo PGT result identifying which embryos are cancer mutation free.
Is it possible for all the embryos have the mutated gene, and if so, what happens then?
It’s a possibility but a less likely scenario since these patients don’t necessarily have issues with fertility. But if it does occur, it’s possible to cycle again to create a new cohort of embryos.
What happens to the embryos that carry a mutated gene?
Ultimately, the couple makes the decision on what happens to their embryos. There are several options, including donating to cancer research or frozen storage.
What are the success rates of PGT?
PGT is highly successful, but this success does depend on many factors, including the results of fertility examinations and if the couple decides to include embryo chromosome screening.
Are there any risks? Is there anyone who should not do PGT?
There is a very small risk associated with embryo biopsy and future developmental competence of the embryo. PGT is only offered to couples that have a known hereditary cancer mutation.
For women or couples deciding to go through PGT, how can they prepare for the experience—mentally, emotionally, physically—to make the process less stressful or easier?
At CCRM, we uniquely offer couples mind and body therapies to ensure the process is manageable and as low-stress as possible. We know that PGT, IVF, and any fertility treatment can appear scary to most, and it’s our duty as the doctors and experts to provide guidance and support when it comes to our patients’ concerns and stress. This includes educating them on different scenarios and available options so they feel empowered to make the best decisions for themselves.
We also encourage patients make self-care a priority throughout any treatment journey—like joining a support group, trying out acupuncture, massage, or yoga to unwind, eating well, and exercising regularly. Healthy habits are essential for keeping our patients at ease through every stage of PGT and fertility treatment.
Always consult your doctor about your options when it comes to your health, fertility, and family planning.