Date of Award


Document Type

Thesis - Open Access


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 and Late-onset Pompe Disease. Relevant themes include the quality of explanation of the diagnosed genetic condition, availability of support from medical providers, and consequences of the condition on aspects of daily living. Overall, participants believed that expanded carrier screening gave important information and recommended that providers responsible for ordering ECS or explaining results offer an appropriate level of education and compassion to their patients. Their responses reveal room for improvement in pre-test counseling, disclosure of incidental diagnoses, patient education during post-test counseling and referral services within the role of the genetic provider.

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Genetics Commons