Despite significant advancements, several challenges persist in the field of genetic mutation diagnostics:
Data Interpretation: The vast amount of data generated by high-throughput sequencing requires complex bioinformatics tools for interpretation. This can be time-consuming and may require specialized expertise. Ethical Concerns: The ability to detect genetic mutations raises ethical questions regarding privacy, consent, and the potential for genetic discrimination. Clinical Validation: New diagnostic tools must undergo rigorous clinical validation to ensure their reliability and accuracy in diverse populations. Access and Equity: There is a need to ensure that these advanced diagnostic tools are accessible to all individuals, regardless of socioeconomic status.
