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| 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
The Madness is upon us, and that means it's time to test your prognostication prowess in the most exciting tournament in sports! 
