{"id":2229,"date":"2022-05-23T00:00:00","date_gmt":"2022-05-23T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2229"},"modified":"2022-05-23T00:00:00","modified_gmt":"2022-05-23T00:00:00","slug":"centogene-contributes-to-europe-wide-efforts-to-update-guidelines-for-whole-genome-sequencing-wgs-in-rare-disease-diagnostics","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pl\/centogene-contributes-to-europe-wide-efforts-to-update-guidelines-for-whole-genome-sequencing-wgs-in-rare-disease-diagnostics\/","title":{"rendered":"CENTOGENE przyczynia si\u0119 do og\u00f3lnoeuropejskich wysi\u0142k\u00f3w na rzecz aktualizacji wytycznych dotycz\u0105cych sekwencjonowania ca\u0142ego genomu (WGS) w diagnostyce chor\u00f3b rzadkich"},"content":{"rendered":"<ul>\n<li>Collaborative initiative leverages CENTOGENE\u2019s differentiated diagnostic expertise with testing performed in over 650,000 individuals globally<\/li>\n<li>Recommendations provide standardized clinical application guidelines for laboratories to accelerate comprehensive diagnosis and promote better health outcomes<\/li>\n<li>WGS increasingly popular for high-quality diagnostics, with the number of CENTOGENE WGS tests increasing double-digit rates in FY2021<\/li>\n<\/ul>\n<p> <strong>CAMBRIDGE, Mass., ROSTOCK, Germany and BERLIN, May 23, 2022 (GLOBE NEWSWIRE) \u2013<\/strong> Centogene N.V. (Nasdaq: CNTG), 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 <a href=\"https:\/\/www.nature.com\/articles\/s41431-022-01113-x.epdf?sharing_token=lyxPAbt7wAep9B1hRi-tl9RgN0jAjWel9jnR3ZoTv0NQ1HSiuPVjwlhGCVRk6bBVLcOJDgWO3vKz7eRizJwbeaoi05Ov2JEAsp3sGp79W6KILw5_5LWK4pvnPyYoG5ntC1V1IaDbdX4EIiRJOw6p49o753hDuMKo8ENDTunV4iw%3D\" target=\"_blank\" title=\"Europejskie czasopismo genetyki cz\u0142owieka\">Europejskie czasopismo genetyki cz\u0142owieka<\/a>, promotes standardized application of WGS \u2013 minimizing diagnostic delay to promote better health outcomes.<\/p>\n<p>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).<\/p>\n<p>Since then, WGS has been increasingly proven as an emerging and comprehensive genetic testing technology to avoid diagnostic delay and stepwise testing.<\/p>\n<p>EuroGentest, Horizon2020\u2019s 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.<\/p>\n<p>Prof. Peter Bauer, Chief Genomic Officer at CENTOGENE, said, \u201cAs 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.\u201d<\/p>\n<p>To read the recommendations for WGS in rare disease diagnostics, visit: <a href=\"https:\/\/link.centogene.com\/wgs-recommendations\" target=\"_blank\" title=\"recommendations for WGS in rare disease diagnostics\">https:\/\/link.centogene.com\/wgs-recommendations<\/a><\/p>\n<h3>About WGS at CENTOGENE<\/h3>\n<p>CentoGenome<sup>\u00ae<\/sup>, CENTOGENE\u2019s WGS service, offers unparalleled genome coverage and captures one of the most extensive ranges of disease-causing genetic variants in a single test. Powered by the CENTOGENE Biodatabank, the world\u2019s largest real-world data repository for rare and neurodegenerative diseases, CentoGenome has the ability to solve up to 30% of WES negative cases.<\/p>\n<p>To learn more about our advanced WGS solution, visit: <a href=\"t3:\/\/page?uid=1974\" title=\"WGS\">https:\/\/www.centogene.com\/diagnostics\/whole-genome-sequencing<\/a><\/p>\n<h3>O firmie CENTOGENE<\/h3>\n<p>CENTOGENE zajmuje si\u0119 diagnostyk\u0105 i badaniami nad chorobami rzadkimi, przekszta\u0142caj\u0105c rzeczywiste dane kliniczne, genetyczne i multiomiczne w celu diagnozowania, zrozumienia i leczenia chor\u00f3b rzadkich. Naszym celem jest racjonalizacja decyzji terapeutycznych i przyspieszenie rozwoju nowych lek\u00f3w sierocych poprzez wykorzystanie naszej rozleg\u0142ej wiedzy i danych na temat chor\u00f3b rzadkich. CENTOGENE opracowa\u0142o globaln\u0105, autorsk\u0105 platform\u0119 bada\u0144 nad chorobami rzadkimi, opart\u0105 na naszym repozytorium danych dotycz\u0105cych chor\u00f3b rzadkich, obejmuj\u0105cym ponad 650 000 os\u00f3b z ponad 120 kraj\u00f3w.<\/p>\n<p>Platforma firmy obejmuje dane epidemiologiczne, fenotypowe i genetyczne, kt\u00f3re odzwierciedlaj\u0105 globaln\u0105 populacj\u0119, a tak\u017ce biobank pr\u00f3bek krwi pacjent\u00f3w i kultur kom\u00f3rkowych. CENTOGENE uwa\u017ca, \u017ce jest to jedyna platforma skoncentrowana na kompleksowej analizie danych wielopoziomowych w celu lepszego zrozumienia rzadkich chor\u00f3b dziedzicznych. Umo\u017cliwia ona lepsz\u0105 identyfikacj\u0119 i stratyfikacj\u0119 pacjent\u00f3w oraz ich chor\u00f3b podstawowych, co umo\u017cliwia i przyspiesza odkrywanie, rozw\u00f3j i dost\u0119p do lek\u00f3w sierocych. Na dzie\u0144 31 grudnia 2021 r. firma wsp\u00f3\u0142pracowa\u0142a z ponad 30 partnerami farmaceutycznymi.<\/p>\n<p>Obserwuj nas na <a href=\"https:\/\/de.linkedin.com\/company\/centogene\" target=\"_blank\" title=\"Link do LinkedIn\">LinkedIn<\/a>.<\/p>\n<h3>O\u015bwiadczenia prognostyczne<\/h3>\n<p>This press release contains \u201cforward-looking statements\u201d within the meaning of the U.S. federal securities laws. Statements contained herein that are not clearly historical in nature are forward-looking, and the words \u201canticipate,\u201d \u201cbelieve,\u201d \u201ccontinues,\u201d \u201cexpect,\u201d \u201cestimate,\u201d \u201cintend,\u201d \u201cproject,\u201d and similar expressions and future or conditional verbs such as \u201cwill,\u201d \u201cwould,\u201d \u201cshould,\u201d \u201ccould,\u201d \u201cmight,\u201d \u201ccan,\u201d and \u201cmay,\u201d are generally intended to identify forward-looking statements. Such forward-looking statements involve known and unknown risks, uncertainties, and other important factors that may cause CENTOGENE\u2019s actual results, performance, or achievements to be materially different from any future results, performance, or achievements expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, negative economic and geopolitical conditions and instability and volatility in the worldwide financial markets, possible changes in current and proposed legislation, regulations and governmental policies, pressures from increasing competition and consolidation in our industry, the expense and uncertainty of regulatory approval, including from the U.S. Food and Drug Administration, our reliance on third parties and collaboration partners, including our ability to manage growth and enter into new client relationships, our dependency on the rare disease industry, our ability to manage international expansion, our reliance on key personnel, our reliance on intellectual property protection, fluctuations of our operating results due to the effect of exchange rates, our ability to streamline cash usage, our requirement for additional financing, or other factors. For further information on the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to CENTOGENE\u2019s business in general, see CENTOGENE\u2019s risk factors set forth in CENTOGENE\u2019s Form 20-F filed on March 30, 2022, with the Securities and Exchange Commission (the \u201cSEC\u201d) and subsequent filings with the SEC. Any forward-looking statements contained in this press release speak only as of the date hereof, and CENTOGENE\u2019s specifically disclaims any obligation to update any forward-looking statement, whether as a result of new information, future events, or otherwise.<\/p>\n<h5>Kontakt dla medi\u00f3w: &nbsp;<\/h5>\n<p>CENTOGENE<\/p>\n<p>Ben Legg<br \/> Komunikacja korporacyjna&nbsp;<br \/> <a href=\"mailto:press@centogene.com\" title=\"Napisz e-mail\">press(at)centogene(dot)com<\/a><\/p>\n<p>Lennart Streibel<br \/> Relacje inwestorskie<br \/> <a href=\"mailto:investor.relations@centogene.com\" title=\"Napisz e-mail\">investor.relations(at)centogene(dot)com <\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Nowo opracowane rekomendacje WGS opublikowane w czasopi\u015bmie European Journal of Human Genetics<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2229","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CENTOGENE Contributes to Europe-Wide Efforts to Update Guidelines for Whole Genome Sequencing (WGS) in Rare Disease Diagnostics | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centogene.com\/pl\/centogene-contributes-to-europe-wide-efforts-to-update-guidelines-for-whole-genome-sequencing-wgs-in-rare-disease-diagnostics\/\" \/>\n<meta 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