Genetic Counseling

In AP Biology class we had the opportunity to listen to two Notre Dame alumnus who are passionate about genetic counseling! 

Quinlyn Highsmith is currently a senior at Howard University and is applying to graduate school to become a genetic counselor. She discussed the process of discovering your passion. She explained how this process should involve thought, time and research. She recommended shadowing or doing an internship to learn more about the career you are considering to follow. Quinlyn also gave valuable advice for college which I listened to closely because I will be in college next year. She emphasized the importance of communication with your advisor, professors and classmates.

Brooke Nightingale graduated from Cal Poly and then pursued her masters degree for genetic counseling at Ohio State. She now works as a genetic counselor at Stanford Lucile Packard’s Children’s Hospital. To learn more about the genetics services that Stanford Children’s Hospital provides, visit their website: https://www.stanfordchildrens.org/en/service/genetics

Brooke explained that genetic counseling is a small field but there are a variety of environments and specialties. As shown below, these settings could include universities, hospitals, laboratories, and the government. Some areas that genetic counselors can specialize in include prenatal, cardiology, and pediatric.

This image is from Quinlyn and Brooke’s presentation.

There are many reasons one would visit a genetic counselor such as being pregnant, monitoring a genetic disorder, or an unknown medical condition. Genetic counselors help their patients understand their genetic risks based on their genetic history, search for the diagnosis of an unknown disorder and provide emotional support. Some patients may have a genetic disorder that relates to a gene that has not yet been discovered. I was surprised to learn that a new gene is discovered every week! Check out this website to stay up to date with new genetic discoveries: https://www.sciencedaily.com/news/health_medicine/genes/

Brooke gave an example of a case which I found to be very interesting. Two sisters ages sixteen and twenty who immigrated from the Congo to the US informed their pediatrician that they have not started their menstruation cycles. The sisters received a karyotype which is a laboratory technique that produces images of a person’s chromosomes. Women normally have two X chromosomes. However, the karyotype came back showing the sisters had a X and Y chromosome. With additional testing, they also found the girls did not have a uterus, instead they had internally developed testicles.  This is when Brooke stepped in to offer them genetic testing in order to better understand the disorder they were facing. The results of the genetic test showed an abnormality in the AR gene located on the Y chromosome. The change in this gene can lead to androgen insensitivity syndrome in which the androgen receptor resists to male hormones. As a result, the sisters appeared to be female but had the genetic makeup of a man. Doctors usually recommend that the testicles are surgically removed to decrease the risk of cancer. But this family declined the surgery because of their religious beliefs. They believed that God had created them that way. This sparked my curiosity as I began to think more about the complex relationship between the coexistence of religion and science. 

This image was taken from Quinlyn and Brooke’s presentation. The image on the right shows a normal male karyotype.

Finally, I enjoyed hearing about what a typical day at work is like as a genetic counselor. Brooke explained how her day usually involves research, patient interaction, and teaching students. The complex field of genetics is constantly advancing which requires people who are eager to learn and are adaptable! This discussion was engaging, interesting and I am excited to learn more about genetics during the upcoming weeks in my biology class.