[Genome sequencing and personalized medicine: perspectives and limitations]

Area of Science:

• Genomics and Bioinformatics
• Molecular Biology
• Medical Genetics

Context:

• Exponential advancements in DNA sequencing technologies have drastically reduced costs and turnaround times.
• High-throughput sequencing devices, or next-generation sequencers (NGS), are increasingly adopted by hospital laboratories.
• This technological shift impacts medical practices, particularly in genetics and oncology.

Purpose:

• To explore the expanding applications of next-generation sequencing in clinical diagnostics and personalized medicine.
• To highlight the role of NGS in identifying genetic predispositions, diagnosing rare diseases, and guiding cancer therapies.
• To discuss the potential of NGS in pharmacogenetics and the advent of individualized treatment strategies.

Summary:

• NGS enables simultaneous analysis of numerous genes for diagnosing Mendelian diseases, carrier screening, and prenatal testing using cell-free fetal DNA.
• In oncology, NGS facilitates the analysis of hereditary cancer genes and comprehensive genomic profiling of tumors to identify actionable mutations for targeted therapies.
• The technology is poised to advance the understanding of multifactorial diseases and pave the way for personalized pharmacogenetics and tailored cancer treatments.

Impact:

• NGS is driving the era of personalized medicine by enabling the identification of somatic mutations and pharmacogenetic variants for tailored therapies.
• Early results indicate improved remission durations and survival rates with targeted NGS-guided treatments, though cost-effectiveness requires further evaluation.
• The widespread adoption of genome sequencing presents significant regulatory and ethical considerations that need to be addressed.