Zifo Clinical Genomics

Forthcoming guidance will recommend labs report VUS subclasses. We present the experience of 4 labs including rates & direction of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing.

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics They established the MorbidGenes panel based on a list of publicly available databases: OMIM, PanelApp, SysNDD, ClinVar, HGMD and GenCC. The panel is freely available at https://lnkd.in/dpWNhFrY and currently includes 5037 genes (as of October 2024) with minimally sufficient evidence on disease causality to classify them as diagnostically relevant. https://lnkd.in/d7NcAfMD

Another extraordinary event marking the International Consortium on Newborn Sequencing (ICoNS) 3rd annual conference at the historical New York Academy of Medicine. A big "THANK YOU" to all who made it memorable, and we look forward to seeing you again in 2025. London, here we come! #ICoNS24 #ICoNS2024 #ICoNS25 #ICoNS2025 #ICoNSeq #ICoNS

I will never forget the first time Paul Kruszka spoke with me about the GUARDIAN study. I had only just joined GeneDx and I was in awe of the impact that this study was promising and humbled at the idea that GeneDx could be a contributing force in bringing this vision to life. It’s been less than two years since our easy decision to collaborate with Wendy Chung and today findings from the GUARDIAN study have now been published in JAMA. At GeneDx we believe in a future where parents are equipped with vital health information about their child from day one – including how their genetics may impact their health. The 5–7-year diagnostic odyssey that parents are facing today to get answers for their children needs to end. The GUARDIAN study showcases?the transformative nature of early disease detection for children, their families and health systems. GeneDx has sequenced more than 13,000 newborns as part of our work with GUARDIAN, and today we were thrilled to see findings from the study be recognized and published in JAMA. The publication reveals that GUARDIAN participants had nearly 4% positivity rate with gNBS, opening the opportunity for proactive and often lifesaving care for these children from day one. With standard newborn screening practices, 92% of these newborns would have been sent home deemed healthy. GeneDx is a pioneering force in taking scientific discovery into clinical practice. I believe in a world where gNBS will become the standard of care and I am honored for the role that GeneDx will play in delivering this testing to as many children as possible. https://lnkd.in/en6AMGtk #genedx #gNBS #JAMA #GUARDIAN #newbornscreening #genome? ?

Available today in Genetics in Medicine, a special article from the ClinGen Consortium “The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation” describes the methods of genomic curation and the development of software and infrastructure needed to support the ClinGen global consortium capable of large-scale evidence-based curation. https://lnkd.in/gMvMgX9N The ClinGen consortium, first established in 2013 by National Human Genome Research Institute (NHGRI) now consists of more than 2,500 expert members representing 69 countries and/or territories. These experts form more than 100 disease-specific panels that work to identify which genes are validly implicated in disease, which variants in those genes are disease-causing and when medical actions are indicated. The goal of the consortium is to standardize assessment and curation of genomic information for use in medical practice and research. As described in the paper, as of January 2024 ClinGen experts had identified and validated 2,420 gene-disease relationships, 1,557 genes for dosage sensitivity and actionability assessments for 447 gene-condition pairs across the pediatric and adult settings. Additionally, researchers had classified 5,161 variants for pathogenicity, and these numbers continue to grow https://lnkd.in/gbNXdc77. New efforts are underway in somatic cancer, complex disease and pharmacogenomics, and a systematic approach to addressing justice, equity, diversity, and inclusion. To learn more visit clinicalgenome.org. This work would not be possible without the entire ClinGen community, thank you! Interested in getting involved? Visit https://lnkd.in/gsUNeh9C.