Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Oct;185(10):2922-2928.
doi: 10.1002/ajmg.a.62372. Epub 2021 Jun 2.

Temporal trends and yield of clinical diagnostic genetic testing in adult neurology

Michael H Guo  1 , Tanya M Bardakjian  1 , Morgan R Brzozowski  1 , Steven S Scherer  1 , Colin Quinn  1 , Lauren Elman  1 , Jennifer Orthmann-Murphy  1 , Thomas F Tropea  1 , Colin A Ellis  1 , Pedro Gonzalez-Alegre  1
Affiliations

Temporal trends and yield of clinical diagnostic genetic testing in adult neurology

Michael H Guo et al. Am J Med Genet A. 2021 Oct.

Abstract

While genetics evaluation is increasingly utilized in adult neurology patients, its usage and efficacy are not well characterized. Here, we report our experience with 1461 consecutive patients evaluated in an adult neurogenetics clinic at a large academic medical center between January 2015 and March 2020. Of the 1461 patients evaluated, 1215 patients were referred for the purposes of identifying a genetic diagnosis for an undiagnosed condition, 90.5% of whom underwent genetic testing. The modalities of genetic testing utilized varied across referral diagnostic categories, including a range of utilization of whole exome sequencing (WES) as an initial test in 13.9% of neuromuscular patients to 52.9% in white matter disorder patients. The usage of WES increased over time, from 7.7% of initial testing in 2015 to a peak of 27.3% in 2019. Overall, genetic testing yielded a causal genetic diagnosis in 30.7% of patients. This yield was higher in certain referring diagnosis categories, such as neuromuscular (39.0%) and epilepsy (29.8%). Our study demonstrates that evaluation at an adult neurogenetics referral center can yield diagnoses in a substantial fraction of patients. Additional research will be needed to determine optimal genetic testing strategies and cost effectiveness of adult neurogenetics evaluation.

Keywords: clinical genetics; genetic counseling; neurogenetics; whole exome sequencing.

PubMed Disclaimer

References

REFERENCES

    1. Bardakjian, T. M., Helbig, I., Quinn, C., Elman, L. B., McCluskey, L. F., Scherer, S. S., & Gonzalez-Alegre, P. (2018). Genetic test utilization and diagnostic yield in adult patients with neurological disorders. Neurogenetics, 19, 105-110.
    1. Córdoba, M., Rodriguez-Quiroga, S. A., Vega, P. A., Salinas, V., Perez-Maturo, J., Amartino, H., Vásquez-Dusefante, C., Medina, N., González-Morón, D., & Kauffman, M. A. (2018). Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. PLoS One, 13, e0191228.
    1. Fernández, I. S., Loddenkemper, T., Gaínza-Lein, M., Sheidley, B. R., & Poduri, A. (2019). Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study. Neurology, 92, E418-E428.
    1. Fogel, B. L., Satya-Murti, S., & Cohen, B. H. (2016). Clinical exome sequencing in neurologic disease. Neurology Clinical Practice, 6, 164-176.
    1. Gorcenco, S., Ilinca, A., Almasoudi, W., Kafantari, E., Lindgren, A. G., & Puschmann, A. (2020). New generation genetic testing entering the clinic. Parkinsonism & Related Disorders, 73, 72-84.

LinkOut - more resources