The Science of Designer Babies: A Genetic Counselor’s Perspective

An Interview with Liya Rabkina M.S. of Igenomix USA

by Disha Divakar, San Marin High School

Liya Rabkina

Having a baby is a serious responsibility and can be a difficult process. When a family is faced with a high chance of passing on an inherited, genetic condition, it can be very difficult and force them to consider their options. Preimplantation genetic testing (PGT for short) allows families to choose embryos with lower risks for these inherited conditions by checking for aneuploidies (abnormal chromosomes) during pregnancy. 

With these "Designer Babies" comes the question of what the future holds for embryo genetic testing, as well as the ethical considerations of this process. Liya Rabkina is a licensed and board-certified genetic counselor at Igenomix in San Francisco with an M.S. in genetic counseling. She presented The Science of Designer Babies: A Genetic Counselor’s Perspective at the Marin Science Seminar on January 25,2023, teaching us about her perspective on genetic testing on embryos. In this interview, she dives into what PGT testing looks like, when it should be used, ethical concerns with PGT-P testing, and future considerations.

What does the PGT testing process look like for your clients? (length, cost, worth, results)

I encourage you to look through our website: https://www.igenomix.com/genetic-solutions/pgt-m/. The timeline can vary from patient to patient but typically takes multiple months. The cost also varies depending on the specific testing ordered for the patient/couple and insurance coverage; it is in the thousands just to test embryos (not to mention the cost of IVF itself).

Which abnormal chromosomes (aneuploidies) are more manageable?

That depends on who you ask and how you define "manageable"! Most aneuploidies do not result in live birth (embryos with these may not implant or may miscarry). There are only a handful of aneuploidies that can result in live birth when present in all or most cells. These are trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and sex chromosome aneuploidies (extra or missing sex chromosomes). The spectrum of symptoms associated with Down syndrome is vast; some adults can live independently while others will need lifelong support. Babies with trisomy 13 and 18 typically don't survive past infancy. Sex chromosome aneuploidies can also vary in terms of clinical symptoms, but are considered milder (when compared to other aneuploidy syndromes). 

When giving your client options, can you explain ethical concerns and your input, or is it all up to the client’s wishes?

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 families.

What is something you wish people understood better/knew about the moral concerns of this type of genetic testing?

I wish more people understood how challenging this process is for families and had a realistic understanding of the likelihood of success. After testing is complete, there are often far fewer embryos than couples are hoping to have available for transfer. I also wish more families had the resources available to them to understand the breadth of options available to them for family planning. Luckily, there are many checkpoints families go through before they receive a referral for us. So, most requests that the average person would consider to be unethical don't make it to the point of initiating this process.

Where do you draw the line regarding “Designer Babies” and PGT testing? Is there some situations you think are more moral than other?

Life-limiting conditions I strongly feel families should have the option to test for and select against. From speaking with families I know how difficult this can be for the parents and the child. I, personally, struggle when families use information that does not impact the health of their future baby for decision-making. For example, there is a new emerging technology we briefly reviewed during the talk called "PGT-P" which tests for "polygenic" (multi-gene) common conditions/risks. There are lots of societies and professional groups that work to guide the testing of embryos and ensure laboratories are ethical. 

What are some alternative approaches for your clients and how can they avoid the ethical concerns of PGT testing? Are there other ways for them to find out about the health of their embryos?

Unfortunately, there is no other way to test embryos (and if there were, the same ethical concerns would apply). If families forgo PGT, they can have diagnostic testing for their pregnancy or at birth. If testing is done during pregnancy, the options are to continue the pregnancy or terminate it. There are, of course, other moral/ethical considerations with terminating a pregnancy. With the current political climate, clinical termination is not always available (or may require a flight and stay in a different state - or could even have legal implications). The families that seek PGT typically want to avoid having to make the decision of whether or not to terminate a wanted pregnancy.

What is your take on the future of this kind of genetic testing and how it may advance?

PGT-P is a hot topic in my industry right now. There are also scientists working on finding ways to "fix" disease-causing genetic variations at the molecular level (rather than test for the condition and select against it). However, this seems to be pretty far off in the future. Ideally, there would be highly effective treatments available for all genetic conditions!