Evaluation of Advances in Genetics and Their Role in the Diagnosis of Difficult-to-Identify Inherited Cardiac Diseases
摘要
Hereditary heart diseases are conditions of considerable complexity and challenging diagnosis. However, the recent advances in genomic and related fields have enabled a greater understanding of the genetic basis of these conditions, offering new tools for their diagnosis and treatment. This paper examines recent discoveries in the identification of new genes and variants, improvements in sequencing techniques such as next-generation sequencing (NGS), and the application of precision medicine and artificial intelligence in genetic analysis. Although these technologies have provided valuable advances, there are still significant challenges in their clinical implementation, including genetic variant interpretation and accessibility to genetic testing. Future research should focus on addressing these challenges and on the integration of these innovations in clinical practice.