Dataset Information

Genetic landscape of inherited retinal dystrophies affected cases in Spain

ABSTRACT: Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in a Spanish cohort of patients. A retrospective hospital-based cross-sectional study was carried out on IRD affected individuals, referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to all families with available DNA using different molecular techniques. Our study provides the general landscape for IRD in Spain and our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.

PROVIDER: EGAS00001005104 | EGA |

REPOSITORIES: EGA

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Publications

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Perea-Romero Irene I Gordo Gema G Iancu Ionut F IF Del Pozo-Valero Marta M Almoguera Berta B Blanco-Kelly Fiona F Carreño Ester E Jimenez-Rolando Belen B Lopez-Rodriguez Rosario R Lorda-Sanchez Isabel I Martin-Merida Inmaculada I Pérez de Ayala Lucia L Riveiro-Alvarez Rosa R Rodriguez-Pinilla Elvira E Tahsin-Swafiri Saoud S Trujillo-Tiebas Maria J MJ Garcia-Sandoval Blanca B Minguez Pablo P Avila-Fernandez Almudena A Corton Marta M Ayuso Carmen C

Scientific reports 20210115 1

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish auton ...[more]

PMID: 33452396

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Project description:Background and study aims Patients who are diagnosed with womb, bowel, or ovarian cancer that fulfill NHS genetic testing criteria are recommended to have genetic testing to see if their cancer was related to an inherited gene alteration. Identifying carriers of alterations allows novel personalised cancer treatments, prevention of second cancers, and testing of family members for cancer screening and prevention. Genetic testing requires pre-test counselling to ensure patients are informed about the impact of having a genetic test and managing the result. This ‘genetic counselling’ has traditionally been provided by genetics services. However, it is now routinely being offered by cancer-treating teams in an approach called “mainstreaming”. Currently, the demand for genetic counselling and testing is swiftly increasing and capacity constraints requires the development of new scalable cost and resource-efficient implementation models. This study will assess if pre-test counselling and genetic testing can be done using a direct-to-patient model. Participants will receive genetic testing information on a smartphone app or website that they can access at home along with counselling support through a study telephone helpline. Those who agree to testing can consent via the app and perform testing at home with a saliva genetic testing kit delivered and returned by post. In the study this direct-to-patient approach is directly compared to the standard mainstreaming approach. Who can participate? Patients aged 18 years and over diagnosed with bowel, womb, or ovarian cancer who are eligible for NHS genetic testing What does the study involve? This study compares and evaluates the uptake of genetic testing using both approaches. The researchers also assess patient satisfaction, quality-of-life, and psychological outcomes following testing, using standardized or customized questionnaires over 1 year of follow-up. Clinician opinions will be elicited. Some patients will also be interviewed to assess attitudes, experiences, and impact on emotional wellbeing. An economic analysis will be undertaken to assess the cost-effectiveness of this approach for the NHS.

Dataset Information

Genetic landscape of inherited retinal dystrophies affected cases in Spain

Publications

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Similar Datasets

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