P506: Patient perspectives on communication and care after genetic variant reclassification

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Authors: Min Seon Park, Sarah A. Knerr, Douglas M. Fowler, Lea M. Starita, Andrew Stergachis, Pankhuri Gupta
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Abstract

Genetic variant classifications are not static – a variant initially reported with a specific classification may be reclassified over time as new evidence accumulates. Professional guidelines emphasize the importance of notifying patients when a prior test result is reclassified. However, little is known about how patients experience receiving a reclassified result. Existing studies suggest variable reactions, limited recall of updated classifications, and mixed emotional responses. However, more qualitative work is needed to understand how patients interpret and emotionally process reclassifications in different clinical contexts.

Fields of Study & Subjects

Genomics and Rare Diseases Patient-Provider Communication in Healthcare BRCA gene mutations in cancer

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103998–103998
Publication date
1 January 2026
Language
EN