1.18.2019

Elective Rotation - Assisted Reproductive Technology

Becky McGowan, 2nd Year Student

One of the opportunities afforded to students in the UC genetic counseling program is the ability to select our own summer rotations.  Having an interest in the area of infertility and preconception genetic counseling, I worked with the program to find two unique rotation opportunities for the summer with genetic counselors at embryo testing laboratories.   In each of these rotations I was able to learn about the types of genetic tests available at the preconception stage, about effective methods for telephone counseling, and about the specific challenges and emotional burdens faced by the preconception patient population.

My first summer rotation was heavily focused on preimplantation genetic testing for single-gene conditions, or PGT-M (monogenic).  This test is available largely to those who know that they have a personal or family history of a condition such as Huntington’s disease, Fragile X, breast cancer, etc. with a known familial mutation already established. Often individuals may not have a family history, but are identified via carrier screening through their fertility clinic as being at risk to have a child with one of the tested genetic conditions.  Couples choosing to screen embryos via PGT-M are often seeking to stop the cycle of disease that has been in their family, or may have lost a child or had a child with a severe presentation and wish to use the technology available to choose to implant an embryo that would not carry the genetic mutation.  Often couples who use PGT-M may not have fertility concerns, but may be going through IVF specifically for this genetic test. 

In my second summer rotation I focused on preimplantation genetic screening for aneuploidy, or PGT-A.  This test screens embryos to see if there are extra or missing chromosomes (aneuploidy).  Having extra or missing chromosomes is the greatest factor in embryo implantation failure and early pregnancy loss. Performing this test increases the chance of establishing a pregnancy during IVF, while also screening for conditions such as Down syndrome, which typically is caused by an additional copy of chromosome 21. 

Since the counseling was performed remotely, I was able to experience a really diverse array of patient interactions. I worked with patients all over the country as well as internationally. I was able to work with same-sex couples, couples using surrogates or gamete donation, single individuals, couples facing male-factor infertility, female-factor infertility, or unexplained infertility.  Patients came to the genetic counseling sessions with different goals and different past experiences on their journey to conception. It was a tremendous opportunity to be a part of that process and allow patients a space to ask questions about genetic testing options. 

Genetic counseling consultations for both of these tests followed a similar structure to the in-person genetic counseling sessions I have been involved in during my other rotations! We started by contracting with the patients and asking what their hopes or goals were of the testing, as well as what information they had coming into the session. In many cases we took a pregnancy history, and for PGT-M cases, where other family members had the condition, we generally took a pedigree and inquired about relatives.  We also reviewed the available test reports and often contacted other laboratories or genetic counselors regarding previous testing or if remaining DNA was available.  The PGT-M cases involved designing a probe with samples of DNA from two generations of family members to track markers that sit above and below the gene of interest. We discussed residual risks, prenatal testing options, and set expectations with patients by discussing the potential outcomes of testing.  In both rotations we worked closely with the laboratory team to determine the best testing approach for each patient.  I also worked on responding to physician inquiries regarding specific patient concerns or testing questions. 

In my second rotation I also had the opportunity to put together and deliver two presentations on another genetic test, endometrial receptivity analysis (ERA).  I spoke about counseling considerations involving this test to staff at a fertility clinic, including nurses, physicians, and lab staff.  I also presented on the test design and the role of the genetic counselor in working with ERA patients for genetic counselors in the special interest group for ART and infertility through the National Society of Genetic Counselors (NSGC).  These experiences allowed me to work on my public speaking skills and educate other providers about the benefit of genetic testing and genetic counseling. 

Overall, my summer rotations were a phenomenal learning experience.  Industry is a rising site for employment of genetic counselors, and it was a great chance to experience work at a for-profit laboratory setting.  Both of my summer sites were heavily involved in research and genetic counselors were encouraged to be involved in research projects.  It was great to see how genetic counselors in these positions are able to move the field forward and improve patient care.   I became very comfortable speaking with patients over the phone and being able to pick up on non-verbal cues to guide psychosocial counseling.  I often felt that patients were more comfortable being emotionally vulnerable over the phone and in the comfort of their own familiar setting, as opposed to in an unfamiliar clinic environment.  It was also very gratifying to be a part of the journey with women and couples who were seeking to build their families.

 - Becky McGowan, Second Year Student