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Prenatal Genomic Sequencing

New Recommendations for Prenatal Genomic Sequencing: What Families Should Know

September 29, 2026
Genetic Testing News Pregnancy
Addressing Misinformation Blog

Addressing Misinformation About Down Syndrome

June 11, 2026
Advocacy Disability News
PCORI

Genetic Support Foundation Awarded Funding to Identify Patient-Centered Achondroplasia Research Priorities

February 12, 2026
News
Pronatalism Blog (11)

The Rebirth of Eugenics: Tech Bros and Pronatalism

June 17, 2025
Advocacy History News
Pronatalism Blog (10)

The Rebirth of Eugenics: Tech Bros and Pronatalism

June 12, 2025
Advocacy History News
Pronatalism Blog (9)

The Rebirth of Eugenics: Tech Bros and Pronatalism

June 10, 2025
Advocacy History News
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New Recommendations for Prenatal Genomic Sequencing: What Families Should Know

Genetic Testing, News, Pregnancy / By

September 2026 Genetic testing in pregnancy is changing quickly. This month, a new set of international recommendations from the International Society of Prenatal Diagnosis (ISPD) and the European Society of Human Genetics (ESHG) was published outlining the use of a type of testing called prenatal genomic sequencing. These recommendations give healthcare providers guidance about when …

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Addressing Misinformation About Down Syndrome

Advocacy, Disability, News / By

By Stephanie Meredith, MA, DrPH and Viviane Polarson, MS, CGC A recent viral video posted by a popular YouTuber with more than five million followers has brought renewed attention to a topic that genetic counselors, medical professionals, and Down syndrome advocacy organizations care deeply about: the quality of information available to pregnant patients at the …

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Genetic Support Foundation Awarded Funding to Identify Patient-Centered Achondroplasia Research Priorities

News / By

We are pleased to announce that the Genetic Support Foundation (GSF) has been approved for a funding award through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support a new project titled “Convening to Identify Patient-Centered CER Priorities of Individuals with Achondroplasia and Families.”  …

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

Advocacy, News / By

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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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

Advocacy, News / By

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

Neurology, News / By

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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Silhouettes of 44 people encircle the text, “Updated 23andMe test still misses moist people with BRCA1/2 hereditary cancer risks”. About 1 in 4 of the people are colored in red and the rest are colored in pink. The pink silhouette is intended to represent people who carry a BRCA1 or BRCA2 pathogenic variant that would be missed by the 23andMe test.

The Value of Knowledge and the Cost of False Reassurance: Understanding the Updates to 23andMe’s BRCA Genetic Testing

Cancer, Genetic Testing, News / By

The recent update to 23andMe’s DTC test in September 2023 expanded their BRCA1/2 analysis to detect a total of 44 specific variants, including those evaluated previously1. This certainly will increase the detection of genetic variants in the BRCA1 and BRCA2 genes for individuals beyond those who are of Ashkenazi Jewish ancestry. However, given that there are thousands of genetic variants in these two genes that are associated with hereditary cancer risks, it is important to recognize that the updated 23andMe test will still miss the majority of people with BRCA-associated hereditary cancer risks.  

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