EMILY ANDERSON

CAPSTONE

Capstone Project Committee: Katherine Foreman, M.S., CGC; Julianne O’Daniel, M.S., CGC; Randi Stewart, M.S., CGC

Research investigating the application of whole genome sequencing (WGS) to newborn screening (NBS) is ongoing, but there is debate surrounding how this technology should be implemented into NBS practice. Pediatric providers are involved in follow-up of abnormal NBS results, and yet their opinions on WGS and NBS are underrepresented. This exploratory study aims to address the gap in knowledge related to pediatric providers’ views on WGS in the newborn period. Paper and electronic surveys were distributed to pediatric providers in North Carolina at in-person staff meetings, via institution specific pediatric provider listservs and the North Carolina Pediatric Society listserv which yielded 34 completed surveys, two of which were excluded from data analysis (N = 32). Eighty-one percent of respondents felt that WGS should not be mandatory in current NBS practice. Respondents reported that primary care providers should be involved in return of results from WGS in NBS, yet several expressed a need for provider education. Pediatric providers raised concerns over the logistical, ethical, and social challenges surrounding implementation of genome sequencing in NBS. The majority of participants agreed that the current ACMG criteria for selecting conditions for NBS should be applied in the context of WGS for NBS. This study is one of the first to investigate the views of pediatric providers regarding WGS of newborns in the setting of NBS, providing insight into perspectives of these important stakeholders.

Since Graduation

Emily left her home state of North Carolina in 2018 to take a job in Florida working in hereditary cancer at Orlando Health. She joined a team of two other genetic counselors, and they work with a high-risk clinic that helps to coordinate care for patients with a variety of hereditary cancer conditions. In her role she meets with both adult and pediatric patients, having taken over the pediatric oncology referrals for the clinic. Emily enjoys the fact that two of her classmates from UNCG (Lauren and Kim) are nearby, having taken jobs in the prenatal department at Orlando Health.

Emily is a clinical supervisor for students at the University of South Florida’s program. She also helps put together monthly case presentations as an educational series for the medical oncology fellows at Orlando Health. Her clinic is fortunate to have grant funding which allows them to educate the community on hereditary cancer and genetic testing, providing lectures to both community providers and the public on varied topics throughout the year.

In her free time Emily enjoys the warm Florida weather. She recently got a goldendoodle puppy named Teddy, and he is keeping her quite busy with all his energy! She is also excited to share that her parents are making the move down to Florida this yearto be closer to her and other family.