1. Explore - Genetic Diseases: Challenges and Solutions

1.4 Diagnostic Challenges

Diagnosing genetic diseases is often complex. Many disorders share similar symptoms, and more than 7,000 rare genetic diseases have been identified worldwide. Some conditions appear only later in life, making early detection difficult. Additionally, many people are healthy carriers of genetic mutations without showing symptoms.

Modern diagnostic tools include newborn screening programs, whole-genome sequencing, and emerging AI-based technologies that analyze genetic data and physical features to support earlier and more accurate diagnosis.