Courtney Berrios, MS
Research Assistant Professor of Pediatrics, University of Missouri-Kansas City School of Medicine
Full Biography
Courtney Berrios, MS, Genomic Medicine Center, received a $49,999 Lauren S. Aaronson Pilot Award from the National Institutes of Health (NIH) - National Center for Advancing Translational Sciences (NCATS) via a Frontiers Clinical and Translational Science Institute (CTSI) subaward.
The funding covers a project period of July 1, 2024-June 30, 2025, and is being used on Courtney’s project, “Moving from Diagnosis to Improved Outcomes: Engaging Community Members to Identify and Address Barriers in Rural Translational Genomic Research and Medicine.”
Courtney’s project focuses on the underserved group of individuals living in rural communities and addressing the barriers they face when given genomic findings and are then asked to take action on the information they’ve been given within the healthcare system.
As Courtney explains, “Translational genomic research studies often focus on linking genetic variation to traits or disease risk, informing the development of future genomic testing methodologies and uses. When such research identifies an actionable disease risk, studies are encouraged to return results to participants so that they can act on findings within the healthcare system.”
Patients and families from rural communities often face challenges in accessing recommended follow-up care after a rare genetic diagnosis. This creates barriers to the translation of a genetic diagnosis into improved health for patients.
Courtney’s project focuses on Children’s Mercy’s Genomic Answers for Kids pediatric genomic research repository which, as she notes, has made specific efforts to reach rural communities that lack access to medical genetic services for diagnosis of rare pediatric genetic conditions.
This pilot study aims to understand the barriers to obtaining recommended follow-up care and identify potential community-guided solutions that can be implemented and evaluated in future studies. It will engage parents/caregivers of children who have recently received a rare genetic diagnosis and primary care physicians who provide care to these families to explore barriers and identify solutions to accessing recommended care in rural settings.
“The findings will address barriers in the impact and equity of translational genomic research and inform care for rural patients impacted by rare genetic conditions,” Courtney said. “Our goal is to close that missed final step in translation from genomic finding to improved health.”
Co-investigators on the project include Ana Cohen, PhD, FACMG, Clinical Genome Center, and Cassandra Barrett, PhD, MS, CGC, Clinical Genetics and Genome Center. The study team also includes two rare disease community advisors, Jewel Akpan and Kelly Baesel-Freund.