Joshua Nolan, James Buchanan, John Taylor, Joao Almeida, Tina Bedenham, Edward Blair, Suzanne Broadgate, Samantha Butler, Angela Cazeaux, Judith Craft, Treena Cranston, Gillian Crawford, Jamie Forrest, Jessica Gabriel, Elaine George, Donna Gillen, Ash Haeger, Jillian Hastings Ward, Lara Hawkes, Claire Hodgkiss, Jonathan Hoffman, Alan Jones, Fredrik Karpe, Dalia Kasperaviciute, Erika Kovacs, Sarah Leigh, Elizabeth Limb, Anjali Lloyd-Jani, Javier Lopez, Anneke Lucassen, Carlos McFarlane, Anthony W O'Rourke, Emily Pond, Catherine Sherman, Helen Stewart, Ellen Thomas, Simon Thomas, Tessy Thomas, Kate Thomson, Hannah Wakelin, Susan Walker, Melanie Watson, Eleanor Williams, Elizabeth Ormondroyd
PURPOSE: The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolaemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia, von Hippel-Lindau. Here we report disclosure processes, manifestation of AF-related disease, outcomes and costs. METHODS: An observational study in an area representing one-fifth of England...
December 19, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics