Personalized biomarker analysis in liquid biopsies enable precision medicine

Abstract: There is a clinical need to develop and use molecular biomarkers in minimally invasive samples to monitor disease and treatment efficacy as a complement to imaging. Circulating tumor-DNA analysis in liquid biopsies, such as blood plasma, is an emerging and promising biomarker with diagnostic and prognostic properties. However, detection of circulating tumor-DNA in clinically relevant samples requires ultrasensitive methods that enable detection of variant allele variants at low frequency. Digital sequencing offers close to error-free analysis with minimal quantification biases. We have developed a simple and flexible digital sequencing approach that is suitable to monitor patient-specific mutations with high sensitivity. Here, we will present an optimized workflow from blood sampling via digital sequencing to final clinical interpretation that is suitable for a clinical setting. We will highlight and discuss different technical and clinical considerations using circulating tumor-DNA analysis. We will demonstrate the usefulness of our approach with data from several clinical studies and tumor entities, such as melanomas, breast cancer and sarcomas. Our data suggest that circulating tumor-DNA analysis with patient-specific panels can assist in precision medicine and cancer management.

Anders Staahlberg

Professor

University of Gothenburg

Anders Ståhlberg, Professor in Clinical Genomics, is working as principal investigator at Sahlgrenska Center for Cancer Research, University of Gothenburg and at Clinical Genetics and Genomics, Sahlgrenska University Hospital in Sweden. He has a PhD in molecular biotechnology and has two post-doc periods working with human embryonic stem cells and tumor biology. Anders primary research interest is to identify molecular mechanisms in tumor development and develop targeted therapies. Another interest is to apply liquid biopsy-based biomarker analysis in cancer management. The research is focused on sarcomas and cancer diagnostics. He has developed several strategies for liquid biopsy analysis and single-cell profiling. Anders is also a co-founder of several biotech companies. Research homepage: https://www.gu.se/en/research/...

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Personalized biomarker analysis in liquid biopsies enable precision medicine
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Open to view video. There is a clinical need to develop and use molecular biomarkers in minimally invasive samples to monitor disease and treatment efficacy as a complement to imaging. Circulating tumor-DNA analysis in liquid biopsies, such as blood plasma, is an emerging and promising biomarker with diagnostic and prognostic properties. However, detection of circulating tumor-DNA in clinically relevant samples requires ultrasensitive methods that enable detection of variant allele variants at low frequency. Digital sequencing offers close to error-free analysis with minimal quantification biases. We have developed a simple and flexible digital sequencing approach that is suitable to monitor patient-specific mutations with high sensitivity. Here, we will present an optimized workflow from blood sampling via digital sequencing to final clinical interpretation that is suitable for a clinical setting. We will highlight and discuss different technical and clinical considerations using circulating tumor-DNA analysis. We will demonstrate the usefulness of our approach with data from several clinical studies and tumor entities, such as melanomas, breast cancer and sarcomas. Our data suggest that circulating tumor-DNA analysis with patient-specific panels can assist in precision medicine and cancer management.
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