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Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
- Source :
- Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100633- (2020)
- Publication Year :
- 2020
- Publisher :
- Elsevier, 2020.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 22144269
- Volume :
- 24
- Issue :
- 100633-
- Database :
- Directory of Open Access Journals
- Journal :
- Molecular Genetics and Metabolism Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.fa556fb38900406ca7d170ef3e1f04a1
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.ymgmr.2020.100633