ClinGen Resource

Don’t forget to register for GenomeConnect’s upcoming webinars. The next one is on Wednesday! Register here: https://lnkd.in/exr4gZWp. #GeneChat #Genetics

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.

NLM’s #ClinVar streamlines genomic data access to empower clinicians with crucial insights for cancer diagnosis, patient care, & treatment outcomes. Its most recent update better supports #SomaticVariants! 🧬 Today’s #NLMMusings shares more + how to submit: https://loom.ly/wlZaghA

ClinGen Resource’s Ancestry and Diversity Working Group will be holding a forum on Monday, October 7th at 9am PT / 10am MT / 11am CT / 12pm ET for a presentation by Dr. Elizabeth Dietz titled 'Defining Sex: The Mis/Use of Genomics and the Law'. This discussion is open to the community, and will be guided by a moderator toward the scientific, ethical, legal, and social implications of how diversity frameworks can and should (or should not) be used in both clinical and research genetics settings. The law accords rights “on the basis of sex.” In order to do so, the law has to define what “sex” is and what it means. In recent years, dozens of laws proposed and passed define sex as binary, determined, and identifiable by chromosomes. This forum will examine the use of biological explanations in contemporary laws defining sex in order to contrast biology as a process of study and discovery with the way that such laws treat biological understanding as static and definitive. Dr. Dietz will explore these powerfully different approaches to understanding the complexity and contemporary importance of dialogue around sex categorization, as well as how differences in these approaches are not merely matters of scientific method (though will discuss the ways in which the prescriptiveness of many statutory definitions of sex is inconsistent with mainstream approaches in genetics and genomics). Through contrasting these approaches, Dr. Dietz will discuss consequential differences in underlying values about not only scientific and genetic understandings of sex, but of the role such understanding can and does play within the larger picture of society. Dr. Elizabeth Dietz is a postdoctoral fellow in bioethics and the history of genomics at the National Human Genome Research Institute (NHGRI), and holds a PhD from Arizona State University. Their work, which focuses on bioethics as it pertains to disability rights and LGBTQ issues, examines how the social processes by which fundamental concepts like “sex” and “informed consent” and “medical necessity” come to be important in varied contexts and to varied ends. Their book project, No Choice But to Choose, examines how informed consent is used (sometimes simultaneously) to hold individuals responsible for structural problems, ensure autonomy, define personhood, and call specific accounts of justice into being. Anyone register can to participate in the forum here → https://lnkd.in/g_wgwHwh The Ancestry and Diversity Working Group (ADWG) encourages guest speakers from diverse personal, professional, and academic backgrounds, and welcomes volunteers as well as nominations for future speakers. Please contact the ADWG's coordinators if you have questions about the forum, or would like to volunteer and/or nominate someone to present. Find more information about the ADWG → https://lnkd.in/gUzuRrNW

Valeria Novelli, chair of the ClinGen Resource Potassium Channel Arrhythmia Variant Curation Expert Panel and member of the ClinGen Resource Cardiovascular Clinical Domain Working Group, will be presenting a poster this week at the SIGU – Società Italiana di Genetica Umana (Italian Society of Human Genetics) 2024 annual meeting about the work of ClinGen in curating inherited cardiovascular disease! #SIGU #SIGU2024 Congratulations to the Cardiovascular Clinical Domain Working Group on sharing this work and thank you to Dr. Novelli for you contributions to the ClinGen effort!

In 2019, our hypertrophic cardiomyopathy gene curation showed 2/3 of "HCM" genes had ltd/no evidence, with 8 sarcomere genes being key We are excited to share the preprint for our ClinGen Resource HCM re-appraisal > with 29 genes now suggested to be included in HCM genetic testing. The ClinGen Hereditary CVD Gene Curation Expert Panel comprises 29 individuals from 21 institutions across 6 countries (Aus, Belgium, Canada, NL, UK, USA). We are tasked with ongoing curation efforts of CVD not already overseen by dedicated GCEPs. TWO absolute STAR co-first authors did most of the heavy lifting on this: Sophie Hespe & Amber Waddell ⭐️ ⭐️ And we're so grateful to all of the biocurators and experts James Ware Elizabeth McNally Roddy Walsh Bert Callewaert Andrew Landstrom Victoria Parikh Chloe Reuter Elizabeth Jordan Courtney Thaxton +++ A total of 35 genes, curated for 37 entities, underwent curation with the final classifications including 8 definitive, 1 strong, 4 moderate, 9 limited evidence, 1 no known disease relationship, and 14 disputed genes. >> 29 genes had moderate, strong or definitive levels of evidence, that should be included in HCM genetic testing https://lnkd.in/gDM7DUbb

GenomeConnect has a YouTube playlist of videos summarizing information about genetics and genetic test results (https://bit.ly/4eUJoEH). Attending #NSGC24? Stop by the GenomeConnect booth #436 to learn more!

Congratulations to Allison Rossel on her poster presentation today at #NSGC24 “GenomeConnect Seizure Survey: Insights into Patient Registry Participants’ Epilepsy Phenotypes and Their Potential Use in Gene-Disease Validity Curation.” #PSY395 Learn more about GenomeConnect at https://lnkd.in/e2syYp-7

Visit GenomeConnect’s Allison Rossel at her poster today on “GenomeConnect Seizure Survey: Insights into Patient Registry Participants’ Epilepsy Phenotypes and Their Potential Use in Gene-Disease Validity Curation.” #PSY395 #NSGC24

If you have questions about ClinGen's work while at #NSGC24, ClinGen's patient registry, GenomeConnect, team will be at booth #436 and happy to answer your ClinGen questions!