Edwin Cuppen, Scientific director at Hartwig Medical Foundation, Professor of Human Genetics shared a post on LinkedIn:
“Whole Genome Sequencing is ready for routine cancer diagnostics!
I am super proud on this landmark publication in Nature Medicine. In 2021, our strategic partner The Netherlands Cancer Institute decided as one of the first hospitals in the world to start using Whole Genome Sequencing (WGS), facilitated by Hartwig Medical Foundation, as their preferred method for routine molecular diagnostics (after completion of the successful WIDE study.
Here, they report on the real-world clinical utility of this approach and demonstrate that the diagnostic success rate went up to an impressive 89% with a median turnaround time of 6 days from biopsy receipt to diagnostic report.
Direct clinical utility, as defined by (revised) diagnosis, detection of standard of care actionable biomarkers, and relevant pathogenic germline variants, was demonstrated for 35% of patients with known tumor types and went up to 67% for patients with Cancer of Unknown Primary (CUP) (overall average 41%).
One or more potentially actionably biomarkers, including experimental and off-label treatments, were found in 73% of patients.
Importantly, patients that started a target treatment based on the WGS results showed a 31% increase in median overall survival. The effect of starting a targeted treatment was largest for patients who did not have previous systemic treatments, suggesting molecular diagnostics and targeted treatments should be considered early during the patient journey.
Below follows a more detailed thread on the key results in the paper.
Many thanks to everyone who made the clinical implementation such a great success! It is clear that there is relevant impact for at least part of cancer patients!”
Title: Real-world clinical utility of tumor whole-genome sequencing in solid cancers
Authors: Jeffrey van Putten, Petur Snaebjornsson, Linda J. W. Bosch, Roelof Koster, Paul Roepman, Joseph Usset, Mirjam C. Boelens, Tom van Wezel, Efraim H. Rosenberg, Serena Marchetti, Marieke Vollebergh, Doenja M. J. Lambregts, Lizet E. van der Kolk, Edwin Cuppen, Hilde H. Nienhuis, Kim Monkhorst
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Title: Feasibility of whole-genome sequencing-based tumor diagnostics in routine pathology practice
Authors: Kris G Samsom, Luuk J Schipper, Paul Roepman, Linda JW Bosch, Ferry Lalezari, Elisabeth G Klompenhouwer, Adrianus J de Langen, Tineke E Buffart, Immy Riethorst, Lieke Schoenmaker, Daoin Schout, Vincent van der Noort, Jose G van den Berg, Ewart de Bruijn, Jacobus JM van der Hoeven, Hans van Snellenberg, Lizet E van der Kolk, Edwin Cuppen, Emile E Voest, Gerrit A Meijer, Kim Monkhorst
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Title: Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice
Authors: Kris G. Samsom, Linda J. W. Bosch, Luuk J. Schipper, Daoin Schout, Paul Roepman, Mirjam C. Boelens, Ferry Lalezari, Elisabeth G. Klompenhouwer, Adrianus J. de Langen, Tineke E. Buffart, Berit M. H. van Linder, Kelly van Deventer, Kay van den Burg, Unga Unmehopa, Efraim H. Rosenberg, Roelof Koster, Frans B. L. Hogervorst, José G. van den Berg, Immy Riethorst, Lieke Schoenmaker, Daphne van Beek, Ewart de Bruijn, Jacobus J. M. van der Hoeven, Hans van Snellenberg, Lizet E. van der Kolk, Edwin Cuppen, Emile E. Voest, Gerrit A. Meijer, Kim Monkhorst
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