Affordable Access

Access to the full text

Inherited Retinal Disorders: Using Evidence as a Driver for Implementation

Authors
  • Sergouniotis, Panagiotis I.
Type
Published Article
Journal
Ophthalmologica
Publisher
S. Karger AG
Publication Date
Jul 05, 2019
Volume
242
Issue
4
Pages
187–194
Identifiers
DOI: 10.1159/000500574
PMID: 31280272
Source
Karger
Keywords
License
Green
External links

Abstract

Incremental advances in the field of retinal genetics have transformed our understanding of inherited retinal disorders and have led to the development of powerful diagnostic tests and promising gene-based therapies. Despite this, successful integration of these developments into routine healthcare is frequently ineffective. Providing robust evidence of benefit can accelerate the implementation of clinical genetic interventions. For example, the adoption of a genetic test is much more likely when the test’s clinical utility (i.e. its ability to influence management and health outcomes) has been clearly demonstrated. However, accruing such evidence for rare conditions like inherited retinal disorders is challenging. Conducting sufficiently powered studies requires both efficient study designs and large-scale, international collaboration. Reaching all populations and as many affected individuals as possible is key. Equally important are efforts to precisely and consistently capture phenotypic information, including natural history data. This article summarizes some of the current obstacles to implemen­tation and discusses approaches to overcome these barriers.

Report this publication

Statistics

Seen <100 times