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Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standar...

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Detalles Bibliográficos
Autores principales: Abbott, Michael, McKenzie, Lynda, Moran, Blanca Viridiana Guizar, Heidenreich, Sebastian, Hernández, Rodolfo, Hocking-Mennie, Lynne, Clark, Caroline, Gomes, Joana, Lampe, Anne, Baty, David, McGowan, Ruth, Miedzybrodzka, Zosia, Ryan, Mandy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9530076/
https://www.ncbi.nlm.nih.gov/pubmed/34415556
http://dx.doi.org/10.1007/s12687-021-00541-4