Advances in genetic diagnosis
This year, DBGen has expanded its genetic diagnostic services by presenting 3 new panels and incorporating state-of-the-art massive sequencing methodologies (complete genome sequencing).
Three new panels:
- Panel of Dysgenesis and Dystrophies of the Anterior Segment (136 genes): indicated for the diagnosis of anomalies of the anterior part of the eye (from the cornea to the lens). Among them, anophthalmia, anterior segment dysgenesis, corneal dystrophies, macrofthalmia and microphthalmia. More information.
- Cataract Panel (90 genes): includes the study of the coding regions of 90 genes associated with cataracts and 15 mutations located in the internal regions of the introns. More information.
- Neuro-ophthalmological Disorders Panel (86 genes): studies 86 genes involved in the most frequent neurophthalmological pathologies, one of the main ones being optic atrophy. More information.
Update of the genetic diagnostic panels:
DBGen makes available to clinicians, patients and their families, 16 panels that allow diagnosing more than 50 pathologies and that together analyze more than 595 genes responsible for diseases of the vision.
Table 1. Update on the number of genes (shown are some of the main panels)
|Retinal Dystrophies Panel||332*||346*||395|
|Retinitis Pigmentosa Panel||122||127||160|
|Macular Dystrophies / Stargardt Disease Panel||26||30||47|
|Bardet-Biedl Syndrome Panel||23||24||28|
|Usher Syndrome Panel||15||17||21|
|Neuro-ophthalmological Disorders Panel #||(15)||(16)||86#|
|*Complete Panel of Retina Dystrophies and other ocular pathologies (years 2018 and 2019). As of 2021 it includes only retinal dystrophy genes. #New panel presented in 2021. Panels from 2018 and 2019 only comprised optic atrophy genes.|
DBGen has incorporated whole genome sequencing (WGS) as the methodology of choice for the identification of complex or difficult to identify mutations. This methodology is especially suitable for cases in which through previous studies it has been possible to characterize one of the two alleles and it is suspected that the second may be related to an alteration in the number of copies or to a genomic reorganization. Unlike the analysis by specific panels or exome sequencing, whole genome sequencing allows to identify any type of mutation, from single nucleotide variants to large reorganizations. More information.
DBGen Ocular Genomics has been selected in the third call of the EASI-Genomics initiative to carry out an innovative research project that will apply third-generation sequencing (long-read sequencing) for the resolution of complex genetic diagnoses in inherited retinal dystrophy patients (PID15251). More information.
DBGen Ocular Genomics-Novartis agreement signed (February 2021) for the genetic characterization of 150 patients affected by inherited retinal dystrophies.
Methodological innovation project to increase genetic diagnostic success.
Research and publications (years 2020 and 2021)
This year, members of DBGen have contributed to research in retinal dystrophies. This contribution has been materialized in the following scientific publications:
Libro blanco de las Distrofias Hereditarias de la Retina (Novartis). Ayuso C., Casaroli R., Català J., Coco R., Creus M., García B., González-Duarte R., Irigoyen C., Mayor A., Pinilla I., Rodriguez E., Tejada P. Medical Education Agency. MEDEA (2020) ISBN 978-84-09-31079-1
Villanueva-Mendoza, C.; Tuson, M.; Apam-Garduño, D.; de Castro Miró, M.; Tonda, R.; Trotta, J.R.; Marfany, G.; Valero, R.; Cortés-González, V.; Gonzàlez-Duarte, R. The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes. Genes 2021, 12(11), 1824; https://doi.org/10.3390/genes12111824
Participation in congresses and other events
- Conference of the Clinical Program for Rare Diseases of Hospital Clinic Barcelona. 10th edition. May 28, 2021. Roser González-Duarte & Ricardo Casaroli Marano: “Inherited retinal diseases: clinical, genetic diagnosis and therapeutic approaches.”
- Commemoration of 30 years of the ESRetina Asturias association: “30 years accompanying you towards a hopeful future”. October 16, 2021. Roser González-Duarte: “Advances and challenges of the genetic diagnosis of retinal dystrophies.”
- First International Congress Retina Iberoamérica. Buenos Aires. October 22 and 23, 2021. Roser González-Duarte: “Recent advances in the genetics of IRDs: new diagnostic scenarios with clinical implications.” Rebeca Valero: “Third generation DNA sequencing (NGS) for the study of complete genomes.”
External quality assessment
DBGen Ocular Genomics has participated since the first edition (2019) in the external quality assessment program dedicated to hereditary eye diseases, organized by Genomics Quality Assessment (GenQA), an external quality assessment agency for genetic diagnosis laboratories, member of the UK NEQAS consortium. In the three editions of the program (2019 Retinal Disorders, 2020 Eye Disorders, 2021 Eye Disorders), DBGen has passed the tests with the maximum qualification.