Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about...

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Detalles Bibliográficos
Autores principales: Kenneson, Aileen, Youngborg, Lauren, Singh, Rani H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398965/
https://www.ncbi.nlm.nih.gov/pubmed/32775212
http://dx.doi.org/10.1016/j.ymgmr.2020.100633
Descripción
Sumario:We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about inheritance patterns was limited, even for those who had received genetic testing. Future studies should further examine knowledge of IMDs and genetic testing among families, and factors that impact clinicians' decisions to offer genetic testing for IMDs.

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