However, the quality, comparability and standardization of genomic profiling varies significantly, and the development of reference measurement systems and standards is still in their infancy stage. The workshop aims to bring together experts and stakeholders to identify the metrological-related questions and approaches that could contribute to the standardization and harmonization of NGS results. Standardization in NGS provides a first basis for further work on the implementation of NGS in important areas such as clinical diagnostics, where reliable results and rapid processing are essential. The workshop will also support the quality assurance, standardization, and reproducibility of sequence data.
Key metrological questions related to NGS:
1. How can metrology contribute to the quality assurance, comparability and reproducibility of NGS results?
2. Which biochemical and/or biomedical properties should be measured quantitatively, and to what level of precision?
3. How can metrology contribute to the development of clear guidelines and instructions for NGS workflows needed to verify the quality of data and procedures?
4. How can metrology be integrated into NGS regulatory processes?
5. How can metrology overcome the challenges of sample commutability with different metrics?
10:15-10:40 „Aspects of quality assurance in Next Generation Sequencing“ Prof.Dr.med. Parviz Ahmad-Nejad, Helios Universitätsklinikum Wuppertal, Germany (Keynotespeaker)
10:40-11:05 „Applying metagenomics for real time outbreak investigation“ Prof. Jacob Moran-Gilad, Ben-Gurion University of the Negev, Israel.
11:05-11:30 „Sequins - dPCR-traceable DNA standards for quantitative metagenomics” Dr.Kai Stoelting, METAS, Switzerland.
11:45-12:10 „NGS Technologies and Applications – a genomics technology platform perspective” Dr. Janine Allmüller, Berlin Institute of Health at Charité–Universitätsmedizin Berlin Max Delbrück Center for Molecular Medicine, Germany
12:10-12:35 „Development of metrology to support genomic NGS profiling for early cancer detection and precision medicine (GenomeMET)” Dr. Carole Foy, NML(LGC), UK
12:35-13:00 „Navigating analytical and regulatory hurdles for the clinical implementation of ultrasensitive sequencing in precision oncology“ Stefan Filges, Simsen Diagnostics AB, Gothenburg, Sweden
14:00-14:25 „The complementary nature of droplet digital PCR and Next Generation Sequencing“ Dr. Adam Corner, BioRad, UK
14:25-14:50 „Understanding sources of error in NGS with Genome in a Bottle benchmarks” Dr. Justin Zook, NIST, USA
14:50-15:15 „Measurement uncertainty in clinical NGS” Dr.Nathaniel Storey, NHS, UK
15:15-15:45 Final discussion