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Pharma’s Role in Practice Guideline Development: Achondroplasia as a Case Study

By Andrea Schelhaas, Stephanie Meredith and Katie Stoll In November 2021 under the Accelerated Approval Program, the U.S. Food and Drug Administration announced approval of Voxzogo (vosoritide), a drug developed by BioMarin for the purpose of increasing linear growth in children with achondroplasia with open growth plates (individuals who are actively growing). Achondroplasia is the …

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Genetic Exceptionalism: Medicine’s Overreliance on Genetic Testing

By Devin Shuman, CGC (she/her) We need to talk about genetic exceptionalism. By this I mean, the notion that genetic testing is so groundbreaking that it has replaced the entire diagnostic process for many conditions. Which leaves us with the question of, what do we do when we hit the edge of genetic knowledge and …

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Photo of protesters in front of a Capitol building holding signs that read "SAVE MEDICAID"

Join Patients in the Fight to Save Medicaid and Social Services

This article is written by Dr. Stephanie Meredith, the Development Director at Genetic Support Foundation and the Supervisor of our Lettercase National Center for Prenatal and Postnatal Resources. She is also the mother of a young man with Down syndrome and has worked in disability advocacy for nearly 25 years. The past two weeks have …

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CHEK2-Associated Cancer Risk and Screening Recommendation Updates

Until last week, National Comprehensive Cancer Network (NCCN) guidelines reported that CHEK2 pathogenic variants (or risk-increasing genetic differences) are associated with an increased risk of colon cancer, citing a 5%-10% lifetime risk. NCCN recommended that carriers of a CHEK2 pathogenic variant begin colonoscopy screening earlier than typically recommended, at age 40, and repeat this screening …

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PLUGS Summit 2024

PLUGS   (Patient-centered Laboratory Utilization Guidance Services) is a non-profit laboratorystewardship organization founded in 2013 with >100 members representing hospitals, healthsystems, diagnostic companies, patient advocacy groups and payers. Seattle Children’s servesas the quarterback for the network which engages diverse stakeholders focused on improvingtest stewardship.  The mission of PLUGS is to improve laboratory test access, ordering, …

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Causation versus Susceptibility: Alzheimer’s Disease, Genetics, & APOE

By Chase Beeler, Rachel Westman, and Devin Shuman New Developments A recent study published in Nature Medicine, and a follow up article in the New York Times, has added to and challenged our understanding of the genetics of Alzheimer’s Disease. Based on the data analyzed, this study is claiming that a specific variant in the …

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