Single-Center Study Highlights System-Wide Benefits of Pediatric Neurogenetic Counseling-Only Clinic

In a single-center analysis, findings showed that a genetic counselor-only clinic can serve as a feasible, efficient, and clinically sound model for improving access to genetic testing in pediatric neurology. With the expansion of gene-targeted therapies in pediatric neurology, non-traditional, study authors concluded that GC-led models will likely be increasingly essential for ensuring equitable and timely access to precision diagnostics.¹

Presented at the 44th National Society of Genetic Counselors (NSGC) Annual Conference, held November 6-10, 2025, in Seattle, Washington, the study evaluated the effectiveness and impact of a pediatric neurogenetic counseling-only clinic from Geisinger Health. Between 2022 and 2024, 1457 pediatric neurology patients were referred for genetics evaluation, with an increasing proportion triaged through the neurogenetic counselor (NGC) each year (204 in 2022 --> 391 in 2023 --> 412 in 2024).

Led by Jamie Lundy, MS, CGC, a genetic counselor for Geisinger Health System, the most common reasons for referral were epilepsy (64%), neurodevelopmental disorders (22%), neuromuscular disorders (5.5%), movement disorders (1%), and neuropathies or brain anomalies (<1%). Many patients had overlapping neurologic and developmental indications, underscoring the complex phenotypes often seen in pediatric neurology.

From 2022-2025, the NGC clinic saw 610 of these patients, mostly via telemedicine. Overall, 491 (80%) completed genetic testing, while others dropped off between referral and testing. Among the testing types, exome sequencing was the most common (73%), followed by gene panels (29%), and other specialized tests (n = 19), such as microarray, methylation, mtDNA, and exome reanalysis.

In terms of the diagnostic yield, 127 results (27%) were diagnostic, 117 (24%) revealed variants of uncertain significance, 247 (50%) were negative/normal, and 13 (10% of positives) included secondary findings, reflecting the comprehensive scope of testing. Importantly, across all years, the NGC clinic maintained shorter wait times than the medical geneticist clinic. Although both increased over time–likely due to higher demand–the NGC consistently provided faster patient access to counseling and test initiation.

READ MORE: NSGC Poster Highlights Positive Impacts of Genetic Counseling for Individuals At-Risk for Frontotemporal Dementia

Toward the end of the analysis, a genetics feedback survey was surfaced to 14 referring Pediatric Neurology providers, with 9 giving responses (64% response rate). Overall, 100% of the respondents know who the NGC was, though one-third lacked a secondary contact. In addition, 89% were somewhat very satisfied with the current referral process, and 11% were somewhat dissatisfied, mainly due to scheduling delays. Notably, 67% felt only minor improvements were needed between Neurology and Genetics, and 33% reported no improvements needed.

The main takeaway from the study was that a genetic counselor-only clinic in pediatric neurology proved to be an effective and sustainable model for enhancing access to genetic services. Among the challenges incurred, there was a notable drop-off between referral and appointment completion, suggesting remaining barriers still to access. Some of the possible factors for this included insurance coverage limitations, family hesitation, and knowledge gaps among referring providers about eligibility or workflow.

In recent years, there has been increased research looking into the effect of pediatric NGCs and GC-led models. A study published earlier this year in the Journal of Genetic Counseling provided preliminary evidence that non-traditional clinic model (NTM) can increase GC patient volume while increasing job satisfaction. Among 78 pediatric GCs recruited via the NSGC student research email, 80.8% were working in an NTM at least some of the time.²

In this study, GCs who worked in NTMs or combination clinic roles reported higher average monthly patient volumes than those working exclusively in traditional model roles. Among NTMs, the most frequently implemented approach was the GC-only clinic. GCs practicing in NTMs also reported greater overall job satisfaction, stronger feelings of clinic support, a higher sense of working at the top of their professional scope, and the perception that they delivered superior patient care compared with those working solely within traditional models.

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REFERENCES
1. Lundy J. A Single Hospital’s Experience Implementing a Pediatric Neurogenetic Counselor. Presented at: 2025 NSGC Conference; November 6-10; Seattle, WA. NEU288
2. Franciskato E, Brokamp E, Jasper E, Munroe C, Britton J, Duncan L. Pediatric genetic counselor use and perception of various clinic models. J Genet Couns. 2025;34(3):e70028. doi:10.1002/jgc4.70028