ACMG ACMG Review Finds NIPS Accurately Detects Common Trisomies in General-Risk Pregnancies The review is going to inform upcoming clinical practice guidelines for noninvasive prenatal screening from the American College of Medical Genetics and Genomics. ACMG Issues Updated Practice Guidelines for Hearing Loss Evaluations The update provides recommendations on how to approach genetic testing for individuals suspected of having syndromic or nonsyndromic hearing loss. Genomic Answers for Kids Project Advances Long-Read Sequencing for Rare Disease Testing Premium The GA4K program, run by Children's Mercy Research Institute, aims to build a testing framework for pediatric patients with undiagnosed rare disease. Early Cancer Detection in Li-Fraumeni Syndrome Patients Enabled by Liquid Biopsy Test Integrated analysis of cell-free DNA appears to help predict the development of cancer in individuals with the hereditary cancer susceptibility condition. Sequencing Leads to Diagnoses in Significant Subset of Immune Conditions in NIAID Program In the first 1,000 families tested through a sequencing-based program at the National Institute of Allergy and Infectious Diseases, researchers diagnosed almost a third of cases. Mar 28, 2022 Working Group Unveils Draft Guidelines at ACMG for Physicians Managing DTC Genetic Testing Results Mar 25, 2022 Cancer Risk Variants Found in Significant Subset of Sarcoma Patient Germlines Mar 25, 2022 ACMG Survey Finds Laboratory Geneticists Have Concerns Over Proposed Changes to LDT Regulation Mar 25, 2022 Initial KidsCanSeq Findings Reveal Medical Recommendations Stemming From Germline Tests Mar 24, 2022 Ambry Genetics Data Suggests RNA-seq Can Boost Variant Interpretation in Understudied Ethnic Groups Dec 16, 2021 ACMG Issues Guidelines on Safeguarding Patient Genomic Data, Avoiding Genetic Discrimination Nov 8, 2021 Genomic Results Return Study Underscores Clinical Value, Takeaways for Expanded Implementation Jul 20, 2021 ACMG Updates Carrier Screening Recommendations for Autosomal Recessive, X-Linked Conditions Jul 1, 2021 ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies May 20, 2021 ACMG Updates Gene List for Labs Reporting Clinical Sequencing Secondary Findings Apr 19, 2021 ACMG Presentation Highlights Broad Institute's Massive Expansion of COVID-19 Testing Program Apr 16, 2021 Columbia University-led Study Highlights Bionano Optical Genome Mapping Concordance with Cytogenetics Apr 16, 2021 People in the News: New Appointments at ACMG, InterVenn Biosciences, Castle Biosciences, More Apr 16, 2021 Team Tracks Genetic Factors Linked to Severe COVID-19, Other Viral Infections in Children Apr 15, 2021 At ACMG, Mechanism for Common Breast Cancer Locus Proposed From Functional Analysis Apr 15, 2021 Study of Sudden Unexpected Death in Children Reveals New Genetic Factors Mar 16, 2021 DNA-Based Screening, Effective Clinical Care Must Be Combined to Improve Health, ACMG Says Feb 24, 2021 ACMG Lobbying State Legislatures on Genetic Counselors' Scope of Practice Draws Criticism Premium Oct 30, 2020 ESHG, ACMG Differ Starkly in Recommendations for Reporting Secondary Findings From Genomic Tests Premium Jul 14, 2020 Dante Labs Software Nabs CE Mark for Interpretation of Whole-Genome Sequencing Data Load More Breaking News Agilent Technologies Fiscal Q2 Revenues Rise 5 Percent SARS-CoV-2 Genome Analysis Reveals Fitness-Enhancing Mutations Startup Incubator IndieBio, GP-Write Launch Initiative to Fund Genome Engineering Firms Precipio Receives CE-IVD Mark for Hematologic Cancer Panels Illumina Adds CDx Indication to European TruSight Oncology Test for NTRK Gene Fusion Detection BioMérieux Gets Health Canada Approval for Updated BioFire Blood Culture ID Panel The Scan Taking Stock of the Stockpile The US and European countries are evaluating their smallpox vaccine stockpiles as the number of monkeypox cases increases, the Washington Post reports. Vitamin D From Tomatoes According to Reuters, researchers in the UK have gene-edited tomatoes so their fruit contains vitamin D. Cause Not Yet Spotted NPR reports that a new study was unable to find a cause for persistent long COVID symptoms. PNAS Papers on Central African Hunter-Gatherers, Myopia Development, Ancient Microtia Allele In PNAS this week: population patterns among Central African hunter gatherers, effect of myopia-linked gene variant, and more.