Article
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2024
Nolan Joshua, Buchanan James, Taylor John, Almeida Joao, Bedenham Tina, Blair Edward, Broadgate Suzanne, Butler Samantha, Cazeaux Angela, Craft Judith, Cranston Treena, Crawford Gillian, Forrest Jamie, Gabriel Jessica, George Elaine, Gillen Donna, Haeger Ash, Hastings Ward Jillian, Hawkes Lara, Hodgkiss Claire, Hoffman Jonathan, Jones Alan, Karpe Fredrik, Kasperaviciute Dalia, Kovacs Erika, Leigh Sarah, Limb Elizabeth, Lloyd-Jani Anjali, Lopez Javier, Lucassen Anneke, McFarlane Carlos, O'Rourke Anthony W, Pond Emily, Sherman Catherine, Stewart Helen, Thomas Ellen, Thomas Simon, Thomas Tessy, Thomson Kate, Wakelin Hannah, Walker Susan, Watson Melanie, Williams Eleanor, Ormondroyd Elizabeth
Abstract excerpt
PURPOSE: The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of...
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