Rachel Mills

CAPSTONE

Capstone Project Committee: Nancy Callanan, MS, CGC, Jan Helfer, Pamela Reitnauer, MD, PhD, MPH

Stickler syndrome is an autosomal recessive connective tissues disorder.  Due to the somewhat recent description and ongoing gene identification, as well as phenotypic variability and low prevalence, Stickler syndrome commonly goes undiagnosed.  Without a diagnosis, individuals may be unable to utilize or acquire necessary services and treatments.  Stickler Involved People (SIP) is an advocacy organization for Stickler syndrome that has recently expanded their objectives to include physician education.  The primary objective for this project is to develop a strategy to inform primary care physicians of features and symptoms of a rare genetic disorder, like Stickler syndrome, that advocacy organizations, like SIP, may use to help plan and implement effective methods of physician education.  A second objective is to develop a plan for dissemination of educational information.  Through literature review and discussions with representatives from advocacy organizations similar to SIP, recommendations for strategies and methods of educating physicians have been formulated.  The information acquired and recommendations that are offered may be used to aid support organizations in improving their strategies of informing healthcare professionals about genetic disorders.

Since Graduation

With a desire to stay in NC after graduation, Rachel took a research position at Duke University. She remained at Duke for 11 years continuing her work as a research genetic counselor. Most of that time was spent in the Center for Applied Genomics & Precision Medicine where she supported research studies exploring the implementation of precision medicine in various clinical settings, particularly pharmacogenetics. In 2019, Rachel had the opportunity to apply for her dream job with the UNCG Genetic Counseling graduate program and was excited to return to the Program as the Research & Capstone Coordinator. Her passion for education and mentorship extends to various volunteer roles with NSGC including serving as the Chair of the Annual Conference Program Planning Committee in 2020 and serving as Vice Chair for the Education Committee this year. Her volunteer work sparked an interest in conducting research related to continuing education, which prompted her to enter a graduate program in Adult, Workforce and Continuing Professional Education at NC State University. She hopes to complete that program and earn her PhD sometime in the next few years…

Rachel lives in Durham, NC with her husband, Justin, their son Rhett and dog Beau. During her free time (where there isn’t a pandemic), Rachel enjoys cheering for the Durham Bulls baseball team, checking out live music and theatre, and sending Mean Girls memes to her UNCG classmates.