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Updated: Oct 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Single whole genome sequencing analysis blazes the trail for precision medicine
Giulia C Napoli1, Cindy H Chau1, William D Figg1
1Molecular Pharmacology Section, Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
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As precision oncology evolves toward developing more targeted therapies, sequencing has moved to the forefront of treatment decision-making. Whole genome sequencing (WGS) has emerged as a technology capable of identifying candidates for rare and targeted treatments. Yet, because the tumor is constantly evolving during relapse and therapy resistance, the frequency with which WGS should be performed to identify potential new therapies for progressing patients remains unknown. A recent study in Nature Medicine by Van de Haar et al. observed a remarkably stable driver gene mutational profile among 250 biopsy pairs from 231 patients undergoing standard of care treatments during the biopsy interval. Their findings suggest that the actionable metastatic cancer genome is relatively stable over time and that a single WGS provides a complete view of the treatment opportunities available to most metastatic cancer patients.
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