Translational utility of next-generation sequencing

Translational utility of next-generation sequencing

• Frank S. Ong^a,
• Jimmy C. Lin^b,
• Kingshuk Das^c,
• Daniel S. Grosu^a,
• Jian-Bing Fan^{a, ,}

• ^a Illumina, Inc., San Diego, CA 92122, USA
• ^b Rare Genomics Institute, St. Louis, MO 63108, USA
• ^c Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA 90095, USA

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Abstract

The development of next-generation sequencing (NGS) technology has made DNA sequencing not only rapid and cost-effective, but also highly accurate and reproducible. The translational utility of genomic sequencing is clear, from understanding of human genetic variation and its association with disease risk and individual response to treatment, to the interpretation and translation of the data for clinical decision making. It will be a critical technology for disease characterization and monitoring in molecular pathology and is expected to become a central piece of routine healthcare management which will result in accurate and reliable reporting, a prerequisite for physicians to practice genomic medicine.