Disha Divakar, San Marin High School
Dog breeding is a well-known process in which certain favorable traits and characteristics of dogs are chosen over others. Over time, people have realized that all dogs are valuable and just as amazing as others even if they come in different shapes and sizes. People have even acknowledged that this type of selective breeding results in unhealthy generations and leads to non-purebred dogs being looked down upon. Similar to this situation exists the developing process of preimplantation genetic testing, PGT for short, and the creation of what we call “Designer Babies”. PGT testing is a developing platform that advances pregnancy opinions and tests for many different conditions. There are three types of PGT-testing: PGT-A to test for aneuploidies, PGT-M to test for monogenetic conditions, and PGT-P for polygenic conditions. It does, however, come with a fair share of ethical concerns.
Featured in this essay is the perspective of a genetic counselor, Liya Rabkina. Rabkina is a licensed and board-certified genetic counselor who is currently working at Igenomix USA in SFO. She holds a B.A. in Biochemistry from Scripps College and M.S. in Genetic Counseling from Northwestern. Through an interview and presentation, she provided insightful information regarding the science of designer babies and the ethics surrounding them.
PGT testing is a novel way to help struggling parents get a better look at their pregnancy. Sometimes families have an increased chance of passing on inherited diseases and conditions to their offspring that may threaten the baby’s life and the pregnancy itself. These can include Down Syndrome, Turner Syndrome, and Klinefelter syndrome. PGT testing helps to test for such conditions. PGT is used in conjunction with in vitro fertilization (IVF) to keep the embryos with the highest chance of survival and the ones with the lowest risks of certain genetic diseases. PGT testing can also be used for the testing of risks of polygenic conditions such as diabetes. One might ask how ethical it is to simply discard embryos that only have a possibility of an inherited illness and may not even be life-threatening.
PGT-A is the more typically used form of PGT testing. PacGenomics, a clinical genetics laboratory, says,” PGT-A, preimplantation genetic testing for aneuploidies, is a genetic test performed on embryos created through IVF to screen for chromosomal abnormalities.” PGT-A is specifically to screen for aneuploidies which are generally related to either an excess or loss of a chromosome. According to Igenomix, PGT-A testing helps decrease the chances of miscarriage, increase pregnancy rates, and provides a greater chance of successful implantation. The detection of these abnormalities helps parents exclude embryos with aneuploidy and keep those with the highest success rate. It is understandable how patients would desire an option like this after they struggle with pregnancy. While PGT-A testing may open doors for some, according to the Pacific Fertility Center of Los Angeles, “PGS/PGT-A testing is typically performed during the IVF procedure, which can cost anywhere from $10,000 to $30,000 without a third-party surrogate or egg donor.” Thinking about this, it is clear that the process is no piece of cake. IVF treatment itself is known to be quite long and expensive due to the number of cycles needed to have a successful embryo. So adding a new test, PGT-A, on top of this already complicated process, can add a lot more tension and stress to a family. Liya Rabkina also wishes that people understood the practicality of this process and success as “there are often far fewer embryos than couples are hoping to have available for transfer.”. Another idea to keep in mind is that PGT-A testing can also be used for sex selection which can present ethical and social problems discussed later. Nonetheless, PGT testing can provide IVF patients with a better shot at a viable pregnancy while some families may be left with a lack of resources and embryos!
Another common form of PGT testing is PGT-M which tests for monogenetic, single-gene diseases. This is generally done when families are aware of a specific genetic condition that spreads in the family and want to test for that specific gene in the embryos. Examples of single-gene diseases include cystic fibrosis, breast cancer, sickle cell anemia, and Huntington’s. These diseases are rare and potentially devastating so it is crucial for families to know how they can prepare themselves and possibly prevent these types of inherited conditions.
Both PGT-A and PGT-M show to test for life-threatening and drastic conditions and both are likely to be on the more immediate and life-long side. On the other hand, a more newly emerging technology known as the PGT-P test for polygenic conditions. This testing shows a possible risk that may develop over time. PGT-P tests for conditions like diabetes, heart disease, and asthma. Generally, as mentioned before, these are more of a risk and develop rather than immediately devastating or threatening the life of the child. While these conditions may still be harmful in the long run, it may be unethical to discard these embryos based off of a non-life-threatening risk. More importantly, these eggs are still viable as well which provides another consideration when it comes to discarding them due to the discovery of a future common risk. Aside from health conditions, it can also test for polygenic traits which include height! This can be considered unnecessary when considering the viability and health of an embryo.
Focusing on ethics, many perspectives can be looked at. Even genetic counselors take the role to place checkpoints and make ethical considerations when offering these tests to ensure that they are truly needed. Rabkina stated, “My team screens all referrals and discusses ethical concerns with the ordering clinician. We may even reject a case if our ethics committee believes we should not move forward with testing. That being said, I also use my clinical judgment when I speak with patients, even for cases that pass our ethics evaluation and are approved by the ordering clinician. I provide patients with information that can help them make the decision that is best for their family.” This is because it is understood that discarding eggs simply based on possibly viable chromosomal conditions and perhaps sex has a chance of leading to unnecessary division and an imbalance in society. PGT-A and PGT-M both test for life-threatening conditions which a family may not be able to support and which could potentially risk the life of the offspring. Testing for these conditions truly helps IVF patients have a more successful pregnancy and outcome. But, the cost and time may outweigh these probabilities as IVF itself as discussed before is an extraneous process topped off with the costly PGT tool. On top of that, PGT-A testing opens doors for sex selection which in an extreme case, could cause society to regress in terms of sexism. Unlike the testing mentioned above, PGT-P testing shows several serious ethical concerns. Not only do these polygenic risks have a much lower effect on the embryo's viability, most of the conditions and traits it tests for are not life-threatening or immediate. They tend to be risks far into the future in cases like diabetes and heart disease and they can even be a trait that is irrelevant to the health of the child like height. Eliminating embryos that don’t pose the same drastic risks as aneuploidies and monogenic conditions, opens up the doors to marginalizing those with these common conditions. Rabkina speaks on where she draws the line on ethical considerations saying,” I, personally, struggle when families use information that does not impact the health of their future baby for decision-making.
Overall, PGT-A and PGT-M testing helps provide parents the chance at a successful pregnancy as it provides more viable eggs and a better chance at a healthier offspring. While this is important, it is also important to keep in mind the effects this may have on society. Testing like PGT-P on the other hand may eliminate healthy and perfectly viable embryos and lead to extreme unbalance in society especially when embryos are discarded based on traits such as height or sex, that do not affect the child’s health. It is important to understand the process and ethical considerations of this new biotechnology.
Works Cited
“Genetic Testing and Screening Services for Family Planning by Pacgenomics.” PacGenomics, 9 June 2023, pacgenomics.com/pgt/.
“PGT-A: Selecting Chromosomally Normal Embryos: Igenomix Me.” Middle East, www.igenomix.net/our-services/pgt-a-patients/. Accessed 1 Aug. 2023.
PGT-M & PGT-A: Loma Linda University Center for Fertility & IVF: Ca. Loma Linda University Center for Fertility & IVF. (2020, May 20). https://lomalindafertility.com/treatments/ivf/genetic-testing/pgt-m-pgt-a/
“Testing for Polygenic Disorders (PGT-P).” Virginia Center for Reproductive Medicine, 30 Nov. 2020, www.vcrmed.com/genetic-screening/testing-for-polygenic-disorders-pgt-p/.
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