The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening. Pathogenic variants in the CFTR gene can cause cystic fibrosis (CF) as well as CF-related disorders. ...
Jun 13, 2023
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A new type of developmental disability caused by mutations in a gene known as CBX1 has been discovered by a UT Southwestern Medical Center researcher and his colleagues. The findings, reported in Genetics in Medicine, offer ...
May 17, 2023
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Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.
May 9, 2023
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Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. ...
May 3, 2023
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With the goal of fostering awareness and identifying strategies to reduce bias within the medical genetics field and to improve health equity, members of the ACMG's Social, Ethical and Legal Issues (SELI) and Diversity, Equity ...
Apr 14, 2023
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The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: ...
Dec 16, 2022
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Researchers from Mass General for Children and colleagues have learned more about the effect of selective terminations on birth prevalence and population prevalence of people with Down syndrome in Australia and New Zealand.
Dec 9, 2022
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Scientists from The University of Manchester have shown that testing for two gene families linked to a lifetime epithelial ovarian cancer risk of between 5% and 20% has a much higher than expected detection rate.
Oct 4, 2022
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Making it possible to directly order and work with the results of genetic testing through patients' electronic health records—instead of through third-party portals—has resulted in significant time savings for clinicians, ...
Sep 21, 2022
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Researchers at Karolinska Institutet have shown in a new study that genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. These findings are published in Genetics in Medicine.
Sep 7, 2022
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