As the popularity of drugs like Ozempic and Mounjaro soar, researchers, doctors, biotechs, and diagnostic firms see a role for biomarkers to guide their use.
As drugmakers take lessons from oncology in developing CAR T cells for other diseases, they must contend with risks that patients outside of cancer may not accept.
BRCA1/2 Mutations Aren't Equal: Researchers Push for Reduced Penetrance Pathogenic Variant Category
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Researchers worked with two labs to identify 16 consensus lower-risk pathogenic variants and are pushing for greater recognition of such variants.
PTC Therapeutics' AADC Deficiency Gene Therapy Kebilidi Gains FDA Accelerated Approval
This is the first gene therapy for AADC deficiency to receive US regulatory approval and the first that can be administered directly to the brain.
Genetic Testing Challenges in Precision Medicine: Li-Fraumeni Diagnosis Missed in Young Patient
A 31-year-old woman with stage IV breast cancer learns a test ordered more than a year before her diagnosis detected a TP53 mutation but she wasn't told.
Ambry Updates Hereditary Cancer Risk Panels With Eye Toward Gene-Disease Validity, Guidelines
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The panels assess genes with strong disease links and clinical management guidelines, but the firm offers limited-evidence genes as an add-on option.