Advances in Genetic Diagnostics for Rare Diseases

Abstract

Genetic diagnostics have revolutionized the field of medicine, particularly in the identification and management of rare diseases. This article reviews the recent advances in genetic testing technologies and their impact on rare disease diagnosis. The development of high-throughput sequencing techniques, such as next-generation sequencing (NGS), has significantly enhanced our ability to detect genetic mutations associated with rare and inherited conditions. Additionally, the integration of genomic data with clinical information has led to improvements in diagnosis accuracy and the ability to provide personalized treatment plans for patients with rare diseases.