Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

ABSTRACT:

Purpose and scope

The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times.

Methods of statement development

A 1-day workshop was convened by the UK Association for Clinical Genomic Science and attended by key stakeholders within the NHS Genomic Medicine Service, including clinical scientists, clinical geneticists and patient support group representatives. The aim was to identify best practice and innovations for streamlined, geographically consistent services delivering timely results. Attendees and senior responsible

SUBMITTER: Ellard S 

PROVIDER: S-EPMC11671936 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature