Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom.

ABSTRACT: PurposeAdvances in genomic technologies are prompting a realignment of diagnostic and management pathways for rare inherited disease. New models of care are being developed as genomic-based diagnostic testing becomes increasingly relevant within more and more aspects of medicine. This study describes current care models for the provision of a genomic-based diagnosis for patients with inherited retinal dystrophy (IRD) in UK clinical practice.MethodsA structured telephone survey, conducted (in 2014) with all 23 UK Regional Genetics Centres and a sample of specialist ophthalmology centres (n=4), was used to describe models of service delivery and current levels of genomic-based diagnostic testing. Quantitative data were summarised using descriptive statistics. Responses to open-ended question

SUBMITTER: Eden M 

PROVIDER: S-EPMC4941073 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature