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Article

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

by
María Isabel Alvarez-Mora
1,2,
Laia Rodríguez-Revenga
1,2,
Meritxell Jodar
1,3,
Miriam Potrony
1,2,
Aurora Sanchez
1,2,
Celia Badenas
1,2,
Josep Oriola
1,
José Luis Villanueva-Cañas
4,
Esteban Muñoz
5,
Francesc Valldeoriola
5,
Ana Cámara
5,
Yaroslau Compta
5,
Mar Carreño
6,
María Jose Martí
5,
Raquel Sánchez-Valle
7,8 and
Irene Madrigal
1,2,*
1
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain
2
CIBER of Rare Diseases (CIBERER), 08036 Barcelona, Spain
3
Molecular Biology of Reproduction and Development Research Group, Department of Biomedical Sciences, Faculty of Medicine, Universitat de Barcelona, 08036 Barcelona, Spain
4
Molecular Biology CORE (CDB), Hospital Clínic de Barcelona, 08036 Barcelona, Spain
5
Parkinson’s Disease & Movement Disorders Unit, Neurology Service, Hospital Clínic Universitari de Barcelona, IDIBAPS, CIBERNED (CB06/05/0018-ISCIII), ERN-RND, Institut Clínic de Neurociències UBNeuro (Maria de Maeztu Excellence Centre), Universitat de Barcelona, 08036 Barcelona, Spain
6
Epilepsy Unit, Department of Neurology, Hospital Clinic, 08036 Barcelona, Spain
7
Neurology Department, Clinical Institute of Neurosciences, Hospital Clinic of Barcelona, 08036 Barcelona, Spain
8
Biomedical Research Institute August Pi i Sunyer (IDIBAPS), Hospital Clinic of Barcelona, 08036 Barcelona, Spain
*
Author to whom correspondence should be addressed.
Genes 2023, 14(4), 813; https://doi.org/10.3390/genes14040813
Submission received: 20 February 2023 / Revised: 21 March 2023 / Accepted: 25 March 2023 / Published: 28 March 2023
(This article belongs to the Special Issue Molecular Mechanisms in Neurodevelopmental Disorders)
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Abstract

Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson’s disease, or epilepsies. Nowadays, recommendations of the American College of Medical Genetics and Genomics strongly recommend applying next generation sequencing (NGS) as a first-line test in patients with these disorders. Whole exome sequencing (WES) is widely regarded as the current technology of choice for diagnosing monogenic ND. The introduction of NGS allows for rapid and inexpensive large-scale genomic analysis and has led to enormous progress in deciphering monogenic forms of various genetic diseases. The simultaneous analysis of several potentially mutated genes improves the diagnostic process, making it faster and more efficient. The main aim of this report is to discuss the impact and advantages of the implementation of WES into the clinical diagnosis and management of ND. Therefore, we have performed a retrospective evaluation of WES application in 209 cases referred to the Department of Biochemistry and Molecular Genetics of the Hospital Clinic of Barcelona for WES sequencing derived from neurologists or clinical geneticists. In addition, we have further discussed some important facts regarding classification criteria for pathogenicity of rare variants, variants of unknown significance, deleterious variants, different clinical phenotypes, or frequency of actionable secondary findings. Different studies have shown that WES implementation establish diagnostic rate around 32% in ND and the continuous molecular diagnosis is essential to solve the remaining cases.
Keywords: neurological disorders; whole exome sequencing; neurodevelopmental disorders; autism spectrum disorder; Parkinson; epilepsy; dystonia; ataxia; spastic paraplegia neurological disorders; whole exome sequencing; neurodevelopmental disorders; autism spectrum disorder; Parkinson; epilepsy; dystonia; ataxia; spastic paraplegia

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MDPI and ACS Style

Alvarez-Mora, M.I.; Rodríguez-Revenga, L.; Jodar, M.; Potrony, M.; Sanchez, A.; Badenas, C.; Oriola, J.; Villanueva-Cañas, J.L.; Muñoz, E.; Valldeoriola, F.; et al. Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes 2023, 14, 813. https://doi.org/10.3390/genes14040813

AMA Style

Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, et al. Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes. 2023; 14(4):813. https://doi.org/10.3390/genes14040813

Chicago/Turabian Style

Alvarez-Mora, María Isabel, Laia Rodríguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, and et al. 2023. "Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders" Genes 14, no. 4: 813. https://doi.org/10.3390/genes14040813

APA Style

Alvarez-Mora, M. I., Rodríguez-Revenga, L., Jodar, M., Potrony, M., Sanchez, A., Badenas, C., Oriola, J., Villanueva-Cañas, J. L., Muñoz, E., Valldeoriola, F., Cámara, A., Compta, Y., Carreño, M., Martí, M. J., Sánchez-Valle, R., & Madrigal, I. (2023). Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes, 14(4), 813. https://doi.org/10.3390/genes14040813

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