carrier screening
Genetic Testing Challenges in Precision Medicine: Parents' Tragedy After Wrong Tay-Sachs Test Order
A physician orders targeted HEXA sequencing when full sequencing is warranted during a high-risk couple's preconception screening, leading to dire consequences.
Population Genetic Screening Would Reveal Patients With Underdiagnosed Disorders, Study Suggests
Researchers developed a data-driven, genomics-first strategy for empirically determining which genes to select for population screening efforts.
23andMe to Fund Sickle Cell Carrier Awareness Program With DNA Testing, Reporting
Working with nonprofit Sickle Cell 101, 23andMe will provide testing and status reports to African Americans, building on an earlier Georgia collaboration.
BFOR Study Uses Digital Tools to Facilitate Population BRCA Screening in Ashkenazi Jewish Community
Results show population screening can pick up risky BRCA1/2 mutations in men and women from Ashkenazi Jewish populations in the US, though engagement challenges remain.
Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers
Breast cancer risk in carriers of pathogenic CHEK2 variants may be classified as low, moderate, or high by adding in polygenic risk score and family history data.