| Abstract | Genetics is rapidly advancing, with new technologies revolutionizing research. However, opportunities provided by NGS seemingly cannot be replicated in clinics, due to lack of genetic expertise among specialists. NGS is a DNA sequencing method, allowing rapid detection of genetic variants in probands by comparison to a reference genome. NGS is an important diagnostic tool in the field of Neurology, as the prevalence of genetic factors in etiology is high, such as in a multitude of causes for movement disorders, developmental delay and morphological brain anomalies, epilepsy, and other neurological diseases.
The aim of this study was to assess the usefulness of NGS. A retrospective study was per-formed, evaluating the indications for NGS in Neurology and pediatric Neurology from 2018-2022, at the University of Rijeka.
Of 116 NGS tests performed across 5 years, 31 pathological variants could be detected across 27 genes, providing a diagnosis for 27 patients (23%). The highest outcome of posi-tive genetic results occurred in developmental anomalies, while the lowest, compared to negative findings, was in dystonia.
Genetic movement disorders were found to be more frequent in the younger population, which is in concordance with previous research. Diagnosed developmental delay is a strong indicator for NGS, especially with concomitant structural brain malformations, sei-zures, or movement disorders. NGS is the gold standard for the diagnosis of primary epi-lepsy, indicating that in Rijeka epilepsy is an underrepresented indication for NGS.
In conclusion, the guidelines for applications of NGS in Neurology could be optimized, with emphasis on genetic education of neurologists. |
