While mutation detection is a powerful tool, it comes with several challenges:
- Sensitivity and Specificity: Ensuring that the methods used are sensitive enough to detect minor mutations and specific enough to avoid false positives. - Cost and Accessibility: Advanced techniques like NGS can be expensive and may not be accessible in resource-limited settings. - Data Interpretation: The vast amount of data generated, especially by NGS, requires sophisticated bioinformatics tools for accurate interpretation. - Ethical Concerns: Genetic data must be handled with care to preserve patient confidentiality and address potential ethical issues.
