2024
DOI: 10.3389/fgene.2024.1335768
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Stigma associated with genetic testing for rare diseases—causes and recommendations

Gareth Baynam,
Roy Gomez,
Ritu Jain

Abstract: Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare system, and societies at large. The possibility of inheriting a genetic disease has a substantial social and psych… Show more

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Cited by 4 publications
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