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Exploration Of Patient Attitudes Toward Receiving Incidental Diagnoses Of Lysosomal Storage Disorders Through Expanded Carrier Screening, Ally Abbott, Xindi Song

Human Genetics Theses

The increased prevalence of expanded carrier screening (ECS) has made it possible for individuals to receive incidental diagnoses of genetic conditions through prenatal or preconception screening that was originally intended to assess risk for genetic conditions in future offspring. The inclusion of genetic conditions with variable expressivity and late-onset phenotypes, such as certain lysosomal storage disorders, have increased the likelihood that this type of screening will result in an incidental diagnosis. Four participants from the lysosomal storage disorders program at NYU Langone Health were interviewed to elicit their psychological reaction to incidental diagnoses of Gaucher Disease Type 1, Fabry Disease …