If you’re seeking assisted reproduction technology (ART) such as in vitro fertilization (IVF) to conceive, you may also wish to test your embryos for potentially serious genetic conditions. Even if you’re not infertile, you may — because of a genetic condition in you or your partner — want testing to make sure you don’t pass the condition on to your child. It might surprise you, however, that not all healthcare providers immediately inform patients about preimplantation genetic testing (PGT). So, what is PGT?
PGT is one of many family planning options and helps to determine if an embryo is healthy. While PGT for single gene disorders — also known as PGT-M, a type of assisted reproduction technology — is growing in prominence, experts say it may often be left out of these crucial family planning discussions. But why?
Each Family Plan Is Different
Since the vast majority of providers in assisted reproductive technology (ART) are aware of all tests available, they can readily tell patients about PGT-M, says Alan Penzias, MD, who serves on the American Society for Reproductive Medicine’s (ASRM) Embryo Transfer Simulator Advisory Panel. But most providers choose to tailor family planning options to each couple’s specific situation, Penzias says, and PGT-M isn’t always relevant.
“One of the key jobs physicians have is to be able to curate information so we can provide targeted testing, diagnostics and customized treatment solutions for the couple in front of us to allow them to make good decisions on their behalf,” says Penzias.
“There are times I come to the conclusion that PGT-M really doesn’t have much bearing on an individual — for example, if she has low ovarian reserve, is in perimenopause or has infrequent periods. Although for that individual PGT exists, the likelihood of her getting to the stage she will have an embryo we potentially could test — and leverage that information to a good outcome — is so remote, it may not be worth having the conversation in the first place. And there may be other options she does better with overall,” says Penzias.
Top Reasons PGT Isn’t Discussed
Which factors prompt healthcare providers to skip a conversation about PGT-M? Experts point to the below:
Low Risk
All reproductive endocrinologists and OB/Gyns should offer genetic carrier screening and review the family health history, preferably before pregnancy. Some doctors offer a limited panel of diseases, while others offer expanded carrier screening, which can test for over 100 different diseases. When screening reveals that the prospective father and mother are not carriers of mutations that cause a disease in their children when inherited together, there is no need to discuss PGT-M. Also, couples who do not have blood relatives with a known genetic disease or a family history suggestive of a genetic disease are also not candidates for PGT-M.
Cost
Since PGT-M may not be covered by medical insurance, healthcare providers may not bring up the option if a patient is paying for fertility services out of pocket and isn’t of “significant means,” Penzias notes. However, there are several ways that couples can find financial support for PGT-M. Healthcare providers should always all avaiable options with patients regardless of cost, and allow patients to determine whether or not they can pursue the proceedure.
Be an Active Participant
A 2016 study published in the International Journal of Fertility & Sterility suggests that if patients aren’t aware of their ART choices from the outset, it influences their acceptance of individual options moving forward. Women who were aware of ART longer demonstrated much more favorable attitudes toward specific technologies, the research found.
If your provider doesn’t bring up PGT-M as you consider family planning options, that doesn’t mean you can’t do so if you feel it’s appropriate to your situation, Penzias says.
“We want to understand what couples have read and then put it into context,” he says. “We can tell them it’s a good option to explore or not, but we’re glad you’re being an active participant in your care. Providers should encourage patients to read widely and come to us with questions to consider.”
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Maureen Salamon is a longtime freelance health and medical writer. After earning a journalism degree at Penn State, she worked as a daily newspaper reporter in New Jersey before devoting her career to health-related topics. Maureen has written for a variety of major publications, including The New York Times, The Atlantic, Genome Magazine, HealthDay and the Dallas Morning News.