SARAH BURZYNSKI

SARAH BURZYNSKI

Capstone Project Committee: Rachel Mills, M.S., CGC; Jenna Plamondon, M.S., CGC; Jacqueline Leonard, M.Sc., M.S., CGC; Lauren Doyle, MGC, CGC

Since the introduction of non-invasive prenatal testing, there has been an increased detection of sex chromosome aneuploidies (SCA) prenatally. This study aimed to evaluate genetic counselor experiences disclosing SCA positive prenatal screening or testing results, and identify common questions parents ask about SCA in the prenatal setting. Forty-eight prenatal genetic counselors completed the mixed methods survey. When asked to quantify their experiences, 97.9% of counselors recalled disclosing a SCA screen positive in the past year, and 81.3% recalled disclosing a diagnostic result. Of the counselors that disclosed a screen positive or diagnostic result, 53.8% reported always or often receiving parental questions about sex, 33% always or often received questions about gender, and 25% always or often received questions about sexual orientation. Counselors were asked an open-ended question about parental questions, and thematic analysis revealed parents commonly asked questions related to their child’s sex, anatomy, reproduction, gender expression, behavior, sexual orientation, and being cisgender or transgender. Common questions were stratified by SCA and differences were noted between Klinefelter syndrome and Turner syndrome. Specifically, counselors reported more questions about sexual orientation and transgender identity when reporting a screen positive or diagnosis of Klinefelter syndrome compared to Turner syndrome. The majority of counselors (83.3%) agreed to some extent that they desired additional education on responding to questions about SCA. Findings from this research indicate a need for accurate and respectful genetic counseling on SCA and discussions of sex, gender, and sexual orientation in clinic, which may be accomplished by additional education.

Since Graduation

Sarah began her journey at UNCG in the fall of 2018 following the completion of her undergraduate degree at Emory University. She was initially drawn to the field of genetic counseling as the profession intersected her loves of science, math, advocacy, and counseling. Sarah graduated virtually along with her classmates in May of 2020.

She looks forward to reconnecting in person with her cohort post-Covid! Throughout her time at UNCG, Sarah was excited by all the specialities where genetic counselors work and how impactful genetic information can be for families across the lifespan. Luckily, she didn’t have to choose just one specialty, as she found a home at her current position as a multidisciplinary genetic counselor with Wellstar Health System. She is eager to serve patients throughout the state of Georgia at various clinics. 

Sarah has planted roots in Atlanta with her partner Rachel and her dog Gus (who she adopted during her first semester at UNCG). She has recently gotten engaged to Rachel and they will be getting married in April 2022!  In her free time, Sarah enjoys playing ultimate frisbee, cooking, traveling, watching reality tv shows, and hiking with Gus.