Characterization of variant reclassification and patient re‐contact in a cancer genetics clinic
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1600
Abstract: Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re‐contact are managed.… read more here.
Keywords: patient contact; variant reclassification; reclassification; genetics ... See more keywords
How should we address the inevitable harms from non‐negligent variant reclassification in predictive genetic testing?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1638
Abstract: The process of interpreting genetic variants, in which experts use all available evidence to determine whether an identified variant is associated with a current or future disease, is both scientific and nevertheless subjective. In this… read more here.
Keywords: inevitable harms; reclassification; harms non; address inevitable ... See more keywords
Perceptions of genetic variant reclassification in patients with inherited cardiac disease
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0377-6
Abstract: Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of… read more here.
Keywords: reclassification; cardiac disease; variant reclassification; inherited cardiac ... See more keywords