The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.

ABSTRACT: Next-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to be the platform for transforming genomic diagnosis in the National Health Service (NHS). Inherited retinal dystrophies (IRDs) are a highly genetically heterogeneous disease group causing progressive visual impairment. IRDs are ideal for an NGS panel approach due to phenotypic overlap and were one of the first diagnostic panels to be developed in the NHS. While diagnostic yield for patients with IRD has improved significantly with NGS, a proportion of patients remain without a diagnosis. The clinical value of NGS testing is well understood; however, the patient experience of panel testing is not well documented. Semi-structured qualit

SUBMITTER: McVeigh E 

PROVIDER: S-EPMC6591333 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature