Genetic Evaluation: Challenges and Solutions

Genetic evaluation faces the challenge of obtaining accurate and comprehensive data on individuals, especially in large populations. Incomplete or missing data can significantly impact the accuracy and reliability of genetic evaluations. Another challenge lies in accounting for environmental...

• Genetic evaluation begins with the index patient and aims to establish a definitive genetic diagnosis, which provides a 100% accurate etiology. This diagnosis enables better supportive care and facilitates screening of at-risk family members to identify potential issues. Prenatal diagnosis and pre-implantation genetic diagnosis are used to prevent recurrence of genetic disorders in future pregnancies.