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CENTOGENE Contributes to Europe-Wide Efforts to Update Guidelines for Whole Genome Sequencing (WGS) in Rare Disease Diagnostics

  • Collaborative initiative leverages CENTOGENE’s differentiated diagnostic expertise with testing performed in over 650,000 individuals globally
  • Recommendations provide standardized clinical application guidelines for laboratories to accelerate comprehensive diagnosis and promote better health outcomes
  • WGS increasingly popular for high-quality diagnostics, with the number of CENTOGENE WGS tests increasing double-digit rates in FY2021

Centogene N.V, the commercial-stage essential biodata life science partner for rare and neurodegenerative diseases, as part of a consortium of organizations in genetics, announced the release of updated recommendations for Whole Genome Sequencing (WGS) in the rare disease diagnostic setting. The report, which was published in the European Journal of Human Genetics, promotes standardized application of WGS – minimizing diagnostic delay to promote better health outcomes.

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The original guidelines for diagnostic Next Generation Sequencing (NGS) were published in 2016 by EuroGentest, an integrated working group within the European Society of Human Genetics (ESHG), to support laboratories with the implementation and execution of standardized diagnostics of rare diseases. At that time, the guidelines predominantly focused on Whole Exome Sequencing (WES) and gene panels to identify Single Nucleotide Variants (SNVs) and insertions/deletions (indels).

Since then, WGS has been increasingly proven as an emerging and comprehensive genetic testing technology to avoid diagnostic delay and stepwise testing.

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EuroGentest, Horizon2020’s Solve-RD team, CENTOGENE, and organizations throughout Europe teamed up to evaluate and update the 2016 NGS guidelines to outline the clinical application of WGS. The recommendations are endorsed by the Solve-RD Steering Committee, the representing European Reference Networks (ERNs), the European Board of Medical Genetics (EBMG), and the ESHG.

Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, said, “As a pioneer of rare disease diagnostics, we are committed to enabling access to quality diagnostics and ensuring that leading-edge insights are available to support better health outcomes. Whole Genome Sequencing has been increasingly popular due to its advanced nature of capturing disease-causing variants in a single test. We are proud to have played a role in this initiative, which is a perfect reflection of the significance of data, ongoing updates that reflect the latest technology, and cross-institutional collaboration to better serve physicians and patients.”

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