Graduation Date
Spring 5-8-2021
Document Type
Capstone
Degree Name
Master’s of Genetic Counseling
Department
Genetic Counseling
First Advisor
Sara Fisher
Abstract
Purpose: Spinal muscular atrophy (SMA) carrier screening has been universally recommended to be offered to all women of reproductive age by the American College of Obstetricians and Gynecologists since 2017. This quality improvement study surveyed women's healthcare providers at a single clinic within an academic institution to evaluate practices and assess barriers to offering SMA carrier screening to patients. Methods: Certified nurse midwife, internal medicine, obstetrician/gynecologists, nurse practitioners, residents, and maternal fetal medicine providers were invited to participate in a survey comprised of multiple choice, Likert scale, and open-ended questions. Full participation included 26 out of 54 providers in the clinic. Results: Most respondents are uncomfortable discussing SMA symptoms (73.1%), positive carrier screening results (84.6%), and residual risk with negative screening results (92.3%). Despite guidelines, only 42.3% (n=11) of providers offer SMA carrier screening to their patients. Those offering screening described barriers including lack of time (9/11), lack of pre-appointment patient education (9/11), and time required to order testing (4/11). Participants in this study suggest possible solutions including developing patient educational materials, referral to genetic counseling, and ordering integration into the electronic medical record system. Conclusions: Results of this study show a discrepancy between SMA carrier screening guideline recommendations and practice implementation. This study supports a need for quality improvement initiatives including provider education, material development, standardization of test ordering, increasing genetic counseling services, and suggests the extension of similar studies to other clinics for quality improvement purposes.
Recommended Citation
Gray Lewis, Elyssa; Said, Heather; Samson, Kaeli; and Fisher, Sara, "Spinal Muscular Atrophy Carrier Screening: Current Practice and Perceived Barriers in a Midwestern Women’s Health Care Clinic" (2021). Genetic Counseling Capstones. 3.
https://digitalcommons.unmc.edu/gc_capstones/3
Comments
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