The genomic landscape of rare disorders in the Middle East.

ABSTRACT:

Background

Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management plans.

Methods

We established a clinical genomics and genetic counseling facility, within a multidisciplinary tertiary pediatric center, in the United Arab Emirates to locally diagnose and manage patients with rare diseases. Clinical genomic investigations included exome-based sequencing, chromosomal microarrays, and/or targeted testing. We assessed the diagnostic yield and implications for clinical management among this population. Variables were compared using the Fisher exact test. Tests were 2-tailed, and P < .05 was considered statistic

SUBMITTER: El Naofal M 

PROVIDER: S-EPMC9881316 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature