Illumina Inc. Details Findings in Genetic Diseases and Conditions (The Impact of Clinical Genome Sequencing In a Global Population With Suspected Rare Genetic Disease).

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Zdroj: Genomics & Genetics Weekly; 8/23/2024, p629-629, 1p
Abstrakt: A study conducted by Illumina Inc. examined the impact of clinical genome sequencing (cGS) on individuals with suspected rare genetic diseases (RGD) from diverse populations. The study found that cGS had a diagnostic yield of 41.4%, with individuals from low- and middle-income countries (LMICs) being 1.7 times more likely to receive a positive test result compared to high-income countries (HICs). Additionally, cGS led to changes in diagnostic evaluation and management for a significant number of individuals. The research suggests that increased access to genomic testing may help reduce global healthcare disparities and promote diagnostic equity. [Extracted from the article]
Databáze: Complementary Index