This personalized re-evaluation strategy, incorporating state-of-the-art genetic testing, evidence-based variant reclassification, and case review by a multidisciplinary team increased the solved rate by over 10%. Consequently, 86 additional families received a definitive diagnosis and accurate genetic counseling, underscoring the impact of periodic re-evaluation and continuous improvement in genetic testing methodologies.
Martins et al. (2026) studied this question.