Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
- Author:
Sangmoon LEE
1
;
Jin ROH
;
Jun Sung PARK
;
Islam Oguz TUNCAY
;
Wonchul LEE
;
Jung-Ah KIM
;
Brian Baek-Lok OH
;
Jong-Yeon SHIN
;
Jeong Seok LEE
;
Young Seok JU
;
Ryul KIM
;
Seongyeol PARK
;
Jaemo KOO
;
Hansol PARK
;
Joonoh LIM
;
Erin CONNOLLY-STRONG
;
Tae-Hwan KIM
;
Yong Won CHOI
;
Mi Sun AHN
;
Hyun Woo LEE
;
Seokhwi KIM
;
Jang-Hee KIM
;
Minsuk KWON
Author Information
- Publication Type:Original Article
- From:Cancer Research and Treatment 2025;57(2):350-361
- CountryRepublic of Korea
- Language:English
-
Abstract:
Purpose:Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion:TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.