Psychology of PGT Q+A with Lisa Pastore, PhD

by | Nov 8, 2018 | Expert Stories | 0 comments

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Concern for the health and well-being of your child is common for parents, but for many parents-to-be, these anxieties begin before the child is even born.

If you’ve just found out that you’re the carrier of a genetic disease, have a personal or family history of a genetic disease, or you’re looking to start a family later in life, in-vitro fertilization (IVF) paired with preimplantation genetic testing (PGT) may be an option to help ensure that you have a healthy baby. However, as anxiety-provoking as the prospect of passing on a hereditary illness feels, the psychological impact of PGT might seem insurmountable too. If you think you’re experiencing these feelings alone, think again.

Since 2003, Lisa Pastore, PhD has researched topics in women’s health, including the psychological impact of PGT and how the PGT experience affects couples’ decision-making. Dr. Pastore currently serves as a faculty member at Stony Brook University School of Medicine.

Q: Why did you decide to study the psychology of infertility and IVF paired with PGT?

A: After studying genetics topics relating to the patient’s own genes among female patients in fertility clinics, it seemed natural to extend my investigation into genetic testing of the embryo.

I’ve always been interested in the patients’ perspectives, so it also made sense for me to explore the decision-making of couples in this testing. We are continuing to invite both men and women who have used or considered PGT in the previous six months to share their thoughts with us through an anonymous online survey at PGTstudy.org.

Q: What is the typical profile of an individual or couple seeking IVF paired with PGT?

A: PGT involves testing for a particular disease: PGT-M, where the M is an abbreviation for monogenic disease, tests for diseases caused by a single gene mutation. PGT-A, where A abbreviates aneuploidy, tests for an abnormal number of chromosomes.

Individuals considering PGT-M have different motivations and concerns than those considering PGT-A. More than 80 percent of PGT-M cycles are for individuals without any infertility diagnosis; rather, these individuals have concerns regarding a specific inherited disease and its impact on the child’s health, such as cystic fibrosis.

In contrast, most individuals seeking PGT-A are referred through a fertility clinic, and thus have some history of subfertility. They don’t necessarily have any genetic conditions in their family history that are a concern to them.

Q: What is the primary motivation of couples and individuals deciding to undergo PGT?

A: Based on our review of the published science with people who were actually using or considering PGT, we found one of the key motivations was to have a healthy, biologically-related child who is protected from a specific genetic disease.

A second common motivation for embryo testing was the avoidance of pregnancy termination for an affected fetus. PGT can also identify an embryo with a chromosomal problem that might normally result in a miscarriage, so PGT-A is recommended for people who have had multiple miscarriages.

Finally, sometimes PGT allows a family to have a subsequent child (informally called a savior sibling) who can medically improve the health of a previously born child affected with a disease.

Q: The number of genetic conditions and hereditary cancers that PGT can screen for is rapidly expanding. Do patients express different concerns about screening embryos for adult-onset disorders and hereditary cancers compared to lethal childhood diseases?

A: PGT-M is more controversial for adult- versus child-onset hereditary diseases, such as the BRCA1/2 gene that increases lifetime cancer risk. It’s been reported that a sense of responsibility to use PGT-M to protect a child from a genetic disease was in contention with some study participants’ concerns about the appropriateness of using PGT-M for adult-onset diseases. Additionally, among 446 women with a personal or family history of breast cancer, more than half viewed PGT-M unfavorably for themselves and for others based on their view of breast cancer as treatable.

Q: How does the PGT experience affect men differently from women psychologically, and how do couples handle these differences?

A: This is a great question and one that we are currently exploring. Through our current study, which is still open to participants at PGTstudy.org, we are investigating patient experiences with PGT — both single gene and chromosomal testing.

Some research has compared if and how men and women respond to this decision psychologically, but the findings can’t easily be summarized into a clean “here is the answer” statement. In my previous research, though, genetic testing for the parents, called carrier testing, was viewed as an additional source of information for husbands as opposed to raising concern among the wives regarding potential reproductive ramifications.

Q: Do you recommend that all couples considering or undergoing PGT meet with a psychologist?

A: Because I’m a researcher and not a clinician, I can’t professionally make a recommendation to meet with a psychologist. But as an individual, I can say that having someone to talk with honestly is a really good thing for everyone.

Q: What other resources or outside support do you recommend for patients?

A: For some topics, your best support may be your romantic partner or a good friend, and for other topics it might be a professional. Men tend to seek mental health therapy less frequently than women, and GoodTherapy.org can be a helpful resource for them. Also, there certainly are specialized reproductive counselors, and those individuals would be attuned to the concerns of people considering PGT. Readers can try searching for “reproductive psychologist” or “reproductive counselor” in their vicinity, or they can search for a certified genetic counselor, find a local infertility support group or contact a mental health professional.

Dawn Michelle Lipscomb, PhD, is a biophysicist, podcast host, and science writer. While finishing a dual B.S. in Physics and Biology at UT San Antonio, she published research on planetary biosignatures for space exploration at NASA-JPL and designed THz bioeffects experiments for human tissues at the Air Force Research Laboratory. In 2017, she completed her Biophysics doctorate at UC Berkeley by developing a new method for imaging proteins that regulate gene expression using cryo-electron microscopy. Today, she co-hosts a live video podcast series on regenerative medicine and writes articles about groundbreaking research in aging and genetics.

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