Common patient misconceptions about PGT-A

Misconceptions abound about preimplantation genetic testing for aneuploidy (PGT-A). The good news is that the misconceptions are 100% treatable—the trick is to find a way to communicate this complex information in a manner that is understandable for all patients.

At the American Society for Reproductive Medicine (ASRM) annual meeting last week, Invitae presented a roundtable discussion focusing on the common misconceptions that patients have about PGT-A.

Here we share some highlights from the discussion that may help to guide conversations with your patients about whether PGT-A is right for them as part of their reproductive journey.

“I know what genetic means”
The word “genetic” can be troublesome because it is often used in many different ways. For some patients, genetic means “running in the family” or a condition that is “hereditary.” For others, it refers to single-gene disorders with well-understood patterns of inheritance or perhaps conjures up advertisements for direct-to-consumer genetic testing. However, it is almost never used by patients to refer to chromosomal disorders, which is exclusively what PGT-A is used to test for.  Learning what each patient’s own definition of “genetic” is can help to create a clearer understanding of PGT-A.

“Yeah, but that won’t happen to me”
Although patients undergoing IVF are often aware that there are risks outside of their control, it’s often difficult to get them to understand population-based risks. For example, it may be necessary to explain that risks for birth defects or neurodevelopment disorders apply to everyone, even to people who are healthy and have no concerning family history. It can be challenging to have patients understand that “everyone” means that these risks also apply to them as well. When we tell our patients they will be paying for a service, but their desired outcome may not even be possible, it begins to feel more like an emotional, physical, mental, and financial gamble.

“I’ve already had that test”
Frequently, patients do not understand the difference between carrier screening, PGT-A, non-invasive prenatal screening, and all of the other testing that happens before and during pregnancy. This goes back to the idea that genetic doesn’t mean the same thing to everyone. In an effort to make the concept of genetic testing clearer, we may inadvertently oversimplify the explanation using terms that are prone to misinterpretation. It’s important to create uniform messaging across all staff members, physicians, embryologists, nurses, and genetic counselors, so that consistent terminology is used and clinicians do not oversimplify, which will hopefully result in patients better understanding the purpose of each test.

“Is my embryo safe during shipping?”
Although patients are told that only a small sample of cells will be removed from the outer portion of the embryo (the trophectoderm) and sent to the laboratory for analysis, some patients think that PGT-A involves physically shipping the embryos to the genetic testing laboratory. This confusion likely arises from the fact that clinics often have their own on-site embryology laboratory (where embryos are created, cultured, biopsied, and stored) and that when clinicians refer to “the laboratory,” it may not be clear whether they are referring to the lab performing the PGT-A or the clinic’s own lab. It is helpful to clarify this issue with patients prior to testing by reinforcing that the PGT-A lab will only receive the biopsied cells, and that the embryos themselves will remain in storage at the embryology laboratory.

Invitae is dedicated to partnering with healthcare providers to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare.

Learn more about how Invitae PGT-A can help your patients: