As an undergraduate, Sarah started out as a nursing student at Drexel University. During her first co-op experience during her sophomore year, she realized that nursing was not the right fit. In her junior year of college, she transferred to a major in Health Sciences, which was designed for students who planned to apply to graduate school and needed core science classes. Though still unsure what she wanted to do for a career, she hoped to find something in healthcare.
During her senior year of college, she took a required genetics class and has been fascinated by the subject ever since. This was her first introduction to genetic counseling and Sarah felt thrilled to finally find something that she could see herself doing in the future. She arranged to shadow a genetic counselor at CHOP for two days and was hooked. After graduation, she gained experience by working as a genetic counseling assistant for one year at Nemours/A.I. duPont Hospital for Children. “This was an extremely valuable experience for me before starting school at Arcadia in August 2017,” reports Sarah. Working as a GCA confirmed her love and interest in genetic counseling and helped Sarah to recognize how much she enjoyed pediatrics.
Based on her affinity for pediatrics, she is most interested in pediatric genetic counseling post-graduation. She finds that she enjoys how every case in pediatrics is unique, " children get referred to Genetics for many different reasons and each child presents differently." The challenge of constantly learning new things is appealing and “it’s also fulfilling for me to be able to work with families as a whole and hopefully make a difference in their everyday life,’ says Sarah.
In reflecting on her graduate training, Sarah feels that the most valuable aspect of her training has been the clinical rotations. Year one of graduate school allowed her to experience three observational clinical rotations, as well as to work with the Friedreich’s Ataxia Research Alliance (FARA). From her work at FARA she developed a one-page research poster looking at time to diagnosis in individuals with Friedreich’s Ataxia and this is where her thesis project was born. During her second year of clinical rotations in pediatric, cancer, and prenatal genetics, she was able to observe the flow of different clinics in the Philadelphia area and surrounding regions. She worked with a diverse patient populations from different socioeconomic groups and was able to see how different individuals view and respond to genetic counseling.
Sarah’s thesis project titled, “Understanding the Diagnostic Experience of Individuals with Friedreich’s Ataxia,” allowed her to analyze different factors that contribute to the time to diagnosis in individuals with FA. Friedreich’s Ataxia (FA) is an autosomal recessive, neurodegenerative condition characterized by progressive truncal and limb ataxia. There is currently no cure for FA but many clinical trials are taking place and a treatment may be approved in the near future. When a treatment becomes available, rapid diagnosis and initiation of therapy will be critical for individuals with FA. Misdiagnosis or delayed diagnosis are common in the FA population. Sarah’s research showed that individuals who present at an earlier age have a quicker time to diagnosis than those who present later (in adulthood or over the age of 20). She and her research team also found that the time to diagnosis has not changed since genetic testing has become available. Her project showed that there is a need for better disease recognition among health care providers in order to improve the time to diagnosis in the FA population.
Now that graduate school has ended, Sarah will be starting her first job as a genetic counselor in the Clinical Genetics department at the Children’s Hospital of Philadelphia. She is excited for this role and to the continued learning opportunities she will have while working in this department.