Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

BACKGROUND: Exome and genome sequencing are routinely used in clinical care and research. These technologies allow for the detection of pathogenic/likely pathogenic variants in clinically actionable genes. However, fueled in part by a lack of empirical evidence, controversy surrounds the provision o...

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Detalles Bibliográficos
Autores principales: Savatt, Juliann M., Wagner, Jennifer K., Joffe, Steven, Rahm, Alanna Kulchak, Williams, Marc S., Bradbury, Angela R., Davis, F. Daniel, Hergenrather, Julie, Hu, Yirui, Kelly, Melissa A., Kirchner, H. Lester, Meyer, Michelle N., Mozersky, Jessica, O’Dell, Sean M., Pervola, Josie, Seeley, Andrea, Sturm, Amy C., Buchanan, Adam H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Study Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227212/
https://www.ncbi.nlm.nih.gov/pubmed/32414353
http://dx.doi.org/10.1186/s12887-020-02070-4

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