Cell-free DNA from liquid biopsies

From biomarker research to personalized medicine

 

The first QIAGEN Virtual Cancer Research event, November 5–6, focused on cell-free liquid biopsies and attracted cancer researchers from all around the world. You can enjoy the talks and discussions by joining the QIAGEN Cancer Research Community via My QIAGEN. Select any video and sign up once to gain access to all of them.

Cell-free DNA analysis – status and outlook

Dr. Ellen Heitzer, Head of Liquid Biopsy Research Laboratory, Institute of Human Genetics, Medical University of Graz, Austria

Molecular profiling from liquid biopsy, in particular cell-free DNA (cfDNA), represents an attractive alternative to tissue biopsies for the detection of actionable targets and tumor monitoring. However, with the growing complexity of next-generation sequencing-based tests, clinical interpretation of somatic genomic mutations has evolved into a formidable task. The validity of commercially available NGS kits and decision support platforms, as well as the clinical utility of cfDNA in the management of patients with cancer, has yet to be proven. In this talk, several studies evaluating various workflows for cfDNA analysis will be presented. Issues hampering the clinical implementation will be discussed.

Liquid profiling for taking care of patients – still a controversial issue?
Dr. Michael Fleischhacker, DRK Kliniken Berlin | Mitte, Germany

The most recent version of the "S3 Guidelines for Prevention, Diagnostics, Therapy and Follow-up care of lung cancer patients" (Feb 2018) asks for applying a liquid biopsy in different clinical settings. This fact clearly demonstrates the usefulness of this approach. On the other hand, we should be aware that our knowledge of extracellular nucleic acid basics is still limited. These are the two poles between which my lecture moves.

Standardized preanalytics: The key for reliable diagnostics, research and biobanking

Dr. Uwe Oelmueller, Vice President Head of MDx Development EU, Sample Technologies, QIAGEN

Compromised patients’ samples often make in vitro diagnostic and research test results unreliable or even impossible. To tackle this challenge, the EU Horizon2020 SPIDA4P consortium is developing and implementing 22 pan-European pre-analytical CEN/Technical specifications and ISO/ international standards for workflows applied to personalized medicine. These specifications, workflows and standards will apply to medical laboratories and their customers, diagnostics developers and manufacturers, regulatory authorities, biobanks and institutions performing biomedical research. Corresponding External Quality Assurance (EQA) schemes have also been developed, aiming to survey the resulting quality of samples. SPIDIA4P is ensuring broad stakeholder involvement, training, education and counseling to support standards implementation.

  • Ellen Heitzer
    Dr. Ellen Heitzer received her Ph.D. in Molecular Biology in 2007 from the Medical University Graz in Austria. After a six-month research stay at the Wellcome Trust Centre for Human Genetics at the University of Oxford, she was offered a tenure track position. In 2016 she was promoted to an associate professor. She published several journal articles that reflect her interest in cell-free circulating tumor DNA and circulating tumor DNA. Ellen Heitzer is one of the leading scientists in Austria dealing with liquid biopsies and she has developed a set of techniques for the analysis of ctDNA. She is heading the Research Unit for Liquid Biopsies for Personalized Medicine in Cancer at the Medical University Graz. In 2017 she was granted a Christion Doppler Laboratory award to research liquid biopsies in early cancer detection. Her expertise has also been recognized internationally. She is the recipient of invitations to international congresses or to review book chapters in international journals.
  • Michael Fleischhacker
    Dr. Michael Fleischhacker is retired from academics and works as a research scientist for the DRK Kliniken Berlin | Mitte in Germany. The clinic specializes in internal medicine, researching the topics of pneumology and sleep. He previously led the pneumological research laboratory at the Universitätsklinikum in Halle (Saale), Germany. He studied in Berlin at the Humboldt University and received his Ph.D. in bacterial genetics at the Martin Luther University in Halle, Germany. He then worked for several years with endogenous human retroviruses. In 1988 he started researching cancer, specifically mutation analysis and detection in a variety of solid tumors. He spent two years as a visiting scientist at UCLA, Los Angeles, researching circulating tumor cells in lung cancer patients. Since 1996 he is working with cell-free nucleic acids (specifically in lung cancer patients).
  • Uwe Oelmueller
    Dr. Uwe Oelmueller joined QIAGEN in 1995. He heads the Molecular Diagnostics Technology Center for Sample Technologies. At the QIAGEN / BD joint venture company PreAnalytiX, he serves as QIAGEN’s management committee co-chair. The company develops and sells integrated systems for sample collection, stabilization and purification of nucleic acids from clinical specimens. Dr. Oelmueller was the coordinator of the EU FP7 Collaborative Grant Project SPIDIA (2008 – 2013) and coordinates the EU Horizon 2020 Coordination and Support Action SPDIA4P (2017 – 2020). Both projects focus on the standardization and improvement of pre-analytical workflows for in-vitro diagnostics. He is a working group convener at the ISO/TC 212 (clinical laboratory testing and in vitro diagnostic test systems) and at the CEN/TC 140 (in vitro diagnostic medical devices). In 2017 he received the “DIN Honorary Needle” Award in Stockholm for his international engagement in standards developments for quality management in medical laboratories. In 2020 he received the CENCENELEC “Standard and Innovation Technical Body Officers Award” in Brussels for successfully introducing research outcome and innovation into standardization.
  • Ellen Heitzer
  • Michael Fleischhacker
  • Uwe Oelmueller
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cfDNA collection/stabilization and sample preparation 
Moderator: Constanze Kindler

Panelists: Dr. Martin Schlumpberger, Dr. Thorsten Voss, Raphael Werding 

Benefit from the expertise of QIAGEN scientists as they answer questions regarding the collection of samples, stabilization and preparation for cfDNA extraction.

cfDNA NGS (SNV, CNV, methyl markers) and data analysis
Moderator: Mary von Langsdorff

Panelists: Dr. Markus Storbeck, Dr. Peter Hahn, Dr. Ioanna Andreou, Dr. Leif Schauser, Raphael Werding 

Benefit from the expertise of QIAGEN scientists as they answer questions regarding NGS and data analysis of cfDNA.

cfDNA digital PCR
Moderator: Ina Scheuerpflug

Panelists: Dr. Andreas Missel, Dr. Oezlem Karalay, Dr. Michael Bussmann, Dr. Gerald Schock 

Benefit from the expertise of QIAGEN scientists as they answer questions regarding the analysis of cfDNA using digital PCR.
  • Ioanna Andreou
    Dr. Ioanna Andreou joined QIAGEN in Hilden, Germany, in 2002. In her current position as an Associate Director in NGS Applications Development, she works on the development of NGS workflows for single-cell whole genome/transcriptome sequencing and whole genome as well as targeted methylation sequencing. Before working for QIAGEN, Ioanna worked as a post-doc fellow at the Dept. of Internal Medicine I at the University Hospital of Cologne to develop tumor therapy based on immune-toxins. She completed her Ph.D. at the University of Freiburg, working in the development of methods for early tumor detection in patients with paraneoplastic neurologic disorders.
  • Michael Bussmann
    Dr. Michael Bussman received his Ph.D. degree in 2009 from the Forschungszentrum Jülich. Before joining QIAGEN in 2015, he held the product management position in MACHEREY-NAGEL, an innovator in chemical and biomolecular analysis products. At QIAGEN, he has held a Global Product Management position in the assay technologies portfolio, including applied testing before assuming responsibility for the PCR Systems & Assays and most recently, digital PCR.
    Michael Bussman
  • Peter Hahn
    Dr. Peter Hahn received his Ph.D. from the University of the Saarland on cellular and molecular virology. He joined QIAGEN R&D in 2002 as a scientist working on kits and applications for Gene Silencing. In 2012, Peter started working on Next-Generation Sequencing kit development. He is currently leading a team responsible for kit development for whole genome and whole exome sequencing applications.
  • Özlem Karalay
    Dr. Özlem Karalay studied Molecular Biology & Genetics at the Middle East Technical University, Turkey, and obtained her M.Sc. degree in Neuroscience from the MPI for Developmental Biology, Tübingen. She received her Ph.D. in neuroscience from the Swiss Federal Institute of Technology (ETH), Zürich. After completing her postdoctoral research at the MPI for Biology of Ageing, in Cologne, she joined QIAGEN and since then, has been involved in developing the digital PCR assay portfolio, including mutation detection and CNV assays.
  • Andreas Missel
    Dr. Andreas Missel is the Director of Research and Development at QIAGEN, responsible for the continuous innovation of nucleic acid modification and amplification technologies and products, such as reagents and assays for QIAGEN's standard and real-time PCR, RT-PCR, HRM solutions, and, most recently, digital PCR. Dr. Missel received his Ph.D. in molecular biology and biochemistry from the Gene Center at the University of Munich. He has worked in various capacities in the biotechnology industry for more than 20 years.
  • Leif Schauser
    Dr. Leif Schauser is Director, Global Product Management for Biomedical Genomics at QIAGEN Digital Insights, the bioinformatics division of QIAGEN. Leif worked at CLC bio, now a QIAGEN company, before its acquisition by QIAGEN. Prior to these roles, he worked as a professor in bioinformatics at Aarhus University, Denmark and completed his postdoctoral training in Norwich, UK. He holds a Ph.D. in plant molecular genetics from Aarhus University, Denmark.
  • Martin Schlumpberger
    Dr. Martin Schlumpberger is Director, Product Development at QIAGEN, focusing on exosomes and circulating, cell-free nucleic acid isolation. Before his current role, he successfully led the development of various RNA isolation products at QIAGEN, including RNeasy FFPE, RNeasy Plus, AllPrep DNA/RNA, miRNeasy and QIAsymphony RNA kits. Before joining QIAGEN, Martin worked as a postdoctoral fellow at the Institute for Neurodegenerative Diseases at UCSF, USA. He holds a Ph.D. in chemistry, with a strong focus on molecular biology and yeast genetics, from the University of Stuttgart, Germany.
  • Gerald Schock
    Dr. Gerald Schock studied Biology and Biochemistry at the University of Mainz, Germany and the University College of Wales, Aberystwyth, UK. He joined QIAGEN after receiving his Ph.D. in 1996 and has held positions in Sales, Regional Marketing, and Global Marketing, where he built up the epigenetics portfolio, including Pyrosequencing instruments, before assuming responsibility for the Life Science detection portfolio, and has now transitioned into digital PCR.
  • Markus Storbeck
    Dr. Markus Storbeck joined QIAGEN in Hilden, Germany, in 2017. In his current position as a Scientist in NGS Technology Development, he works on developing NGS library preparation workflows for Illumina and Ion Torrent sequencing platforms as well as target enrichment technologies. Before working for QIAGEN, Markus worked as a post-doc at the Institute of Human Genetics, University Hospital of Cologne, on the discovery of variants causing rare inherited disease. Markus completed his Ph.D. on mRNA splicing factors in neuromuscular and neurodegenerative disease in 2014.
  • Thorsten Voss
    Dr. Thorsten Voss is Associate Director R&D, at PreAnalytiX focusing on developing the PAXgene collection and nucleic acid isolation products. Before joining QIAGEN, Thorsten worked as a Scientist at Artemis Pharmaceuticals Cologne and completed his Post-doc at IBWF in Kaiserslautern, Germany. He studied biology at the University of Münster and holds a Ph.D. in molecular genetics and microbiology.
  • Raphael Werding
    Raphael Werding received his Masters’ Degree in Biological Sciences from the University of Liege (Belgium) in 2004. He joined QIAGEN in 2018. In his current position as a Global Product Manager, he is responsible for strategic planning related to the Genomic Services portfolio. Before joining QIAGEN, he managed a Genomic Services group composed of wet-lab and bioinformatics scientists.
  • Ioanna Andreou
  • Michael Bussman
    Michael Bussmann
  • Peter Hahn
  • Özlem Karalay
  • Andreas Missel
  • Leif Schauser
  • Martin Schlumpberger
  • Gerald Schock
  • Markus Storbeck
  • Thorsten Voss
  • Raphael Werding
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