Newly established WGS recommendations published in the European Journal of Human Genetics
- Collaborative initiative leverages CENTOGENE’s differentiated diagnostic expertise with tests performed on over 650,000 people worldwide
- Recommendations provide standardized clinical application guidelines for laboratories to expedite comprehensive diagnosis and promote better health outcomes
- WGS is increasingly popular for high-quality diagnostics, with the number of CENTOGENE WGS tests increasing double-digit rates in fiscal year 2021
CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 23, 2022 (GLOBE NEWSWIRE) — Centogene NV (Nasdaq: CNTG), the essential commercial-stage life science biodata partner for rare and neurodegenerative diseases, as part of a consortium of genetic organizations, announced the publication of updated recommendations for whole genome sequencing (WGS) in the diagnosis of rare diseases. The report, which was published in the European Journal of Human Geneticspromotes standardized application of WGS – minimizing diagnostic delay to promote better health outcomes.
The original guidelines for next-generation diagnostic sequencing (NGS) were published in 2016 by EuroGentest, an integrated working group within the European Society for Human Genetics (ESHG), to support laboratories in the implementation and performing standardized diagnostics of rare diseases. At that time, guidelines mainly focused on whole exome sequencing (WES) and gene panels to identify single nucleotide variants (SNVs) and insertions/deletions (indels).
Since then, WGS has increasingly proven itself as an emerging and comprehensive genetic testing technology to avoid diagnostic delays and staged testing.
EuroGentest, the Horizon2020 Solve-RD team, CENTOGENE and organizations across Europe have partnered to review and update the 2016 NGS Guidelines to describe the clinical application of WGS. Recommendations are endorsed by the Solve-RD Steering Committee, European Reference Networks (ERNs), European Board of Medical Genetics (EBMG) and ESHG.
Professor Peter Bauer, Director of Genomics at CENTOGENE, said: “As a pioneer in the diagnosis of rare diseases, we are committed to enabling access to quality diagnostics and ensuring that cutting-edge information is available for support better health outcomes. Whole genome sequencing is increasingly popular due to its advanced nature of capturing pathogenic variants in a single test. We are proud to have played a part in this initiative, which perfectly reflects the importance of data, continuous updates that reflect the latest technologies and inter-institutional collaboration to better serve doctors and patients.
To read the WGS recommendations in the diagnosis of rare diseases, visit: https://link.centogene.com/wgs-recommendations
About WGS at CENTOGENE
CentoGenome®, CENTOGENE’s WGS service, offers unparalleled genomic coverage and captures one of the widest ranges of pathogenic genetic variants in a single test. Powered by the CENTOGENE Biodatabank, the world’s largest repository of real data on rare and neurodegenerative diseases, CentoGenome has the ability to resolve up to 30% of WES negative cases.
To learn more about our advanced WGS solution, visit: https://link.centogene.com/wgs-at-centogene
CENTOGENE is committed to the diagnosis and research around rare diseases by transforming real-world clinical, genetic and multiomics data to diagnose, understand and treat rare diseases. Our goal is to bring rationality to treatment decisions and accelerate the development of new orphan drugs by using our deep knowledge and data on rare diseases. CENTOGENE has developed an exclusive global rare disease platform based on our real-world data repository of over 650,000 people representing over 120 different countries.
The Company’s platform includes epidemiological, phenotypic and genetic data that reflects a global population, as well as a biobank of patient blood samples and cell cultures. CENTOGENE believes it is the only platform focused on comprehensive multi-level data analysis to improve understanding of rare inherited diseases. It enables better identification and stratification of patients and their underlying diseases to enable and accelerate the discovery, development and access to orphan drugs. As of December 31, 2021, the Company collaborated with more than 30 pharmaceutical partners.
For more information, visit www.centogene.com and follow us on LinkedIn.
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