Clinical Applications and Implementation Challenges
In the clinical domain, NGS-based genetic testing is becoming common practice for diagnosing genetic disorders. Targeted panels and exome/genome sequencing can rapidly identify causal variants for rare Mendelian disorders. NGS is increasingly being used for non-invasive prenatal testing, tumor profiling for personalized cancer treatment and infectious disease diagnostics. Various clinical trials are underway to evaluate the medical impact and cost-effectiveness of applying Next Generation Sequencing in different clinical scenarios.
However, the widespread clinical implementation of next generation sequencing also faces challenges. Significant technological advancements are still needed for processing and analyzing massive datasets and robust clinical validation of tests. Regulatory and reimbursement frameworks need to adapt to rapidly evolving genomic sequencing capabilities. Significant expertise is required for the interpretation of clinical NGS results given the complexity of human genetics and variations. Strong data protection and ethical guidelines are essential for protecting patient privacy and addressing issues around incidental findings. Overall, the next decade holds promise to see NGS firmly established for clinical use if these challenges can be adequately addressed.
Looking ahead, several trends will further establish NGS as a transformative technology. Sequencing costs are expected to continue declining at an exponential rate, making genome sequencing affordable for clinical and research applications on a massive scale. Long-read sequencing technologies will allow more complete de novo assemblies of complex genomes including human genome variants. Portable and easy-to-use sequencing devices will enable genomic analysis in point-of-care settings.
Gets More Insights on: Next Generation Sequencing
