Patient perceptions of duties and responsibilities in variant reclassification and recontact process

ELSIcon2024 • Paper • June 12, 2024 

Authors:

Speaker: Sukh Makhnoon, PhD, MS - University of Texas Southwestern Medical Center

Reclassification of variants of uncertain significance (VUS) occurs frequently. Return of VUS reclassification often requires active participation of carriers. They need to appreciate that classification can change over time (either upgraded or downgraded), some may impact medical management, and it may be important to periodically check back for reclassification updates. We have limited knowledge about the extent to which patients understand their responsibility in the reclassification and recontact process.

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