Megan G. Zebell1, Jenna K. Lea1, Hailey A. Segall1, Claudia M. Testa1
1Precision Medicine and Neurogenetics, Dept of Neurology, University of North Carolina at Chapel Hill
Objective:
We established a neurogenetics division within Neurology focused on collaborative, distributed care models designed to increase access to diagnosis and care.
Background:
Access to diagnosis and care for neurogenetics patients is a rapidly growing need. Opportunities exist to simultaneously expand care access and neurologist contributions to genetic diagnosis and care.
Design/Methods:
Our model leveraged existing, successful pediatric and adult Neurology, Pediatrics and Genetics clinics, and established new Neurology-based clinics. Structures include two genetic counselor (GC) clinics, four physician-GC neurogenetics clinics, six Neurology transdisciplinary clinics with embedded GC, and Pediatric Genetics mitochondrial disorders clinic. We developed novel care services including in-clinic telehealth with a rural-based general neurology practice, direct GC and physician-GC referral pathways for Neurology resident clinics, and direct referrals from newborn screening and perinatal testing programs (SMA, X-ALD) for symptomatic individuals and newly identified adult carriers.
Results:
Patient volume August 2022 through September 2023: 269 patients in GC clinics, 114 in physician-GC clinics, 117 in transdisciplinary clinics. Referral types: 307 single or multi-visit diagnostic consults, 146 predictive testing, 150 post-test results interpretation, and symptomatic care. 157 diagnostic consults generated genetic testing, with 66 positive results, 42 negative, 49 variants of unknown significance (VUS). 85 predictive testing consults generated genetic testing: 24 positive, 47 negatives, and 6 VUS. The result interpretation appointments included 75 positive results, 25 negatives, and 50 VUS. We report data through December 2023 from one (GC) and 1.5 years (physician-GC) of new clinics. Highlights include rare and reportable diagnoses for age-related and reduced penetrative conditions, a large range (up to decades) of time from symptoms to diagnosis, and clinic growth across diagnoses and patient demographics.
Conclusions:
Our data show feasibility of a collaborative neurogenetics program integrated across pediatric and adult Neurology and its benefit to increase patient access, diagnoses, and confidence and competency of Neurology providers in neurogenetic patient care.