Abstract Increased detection of variants of uncertain significance (VUS) from clinical genomic testing has brought about more frequent variant reclassifications which have the potential to impact patient care and well‐being. However, the lack of best practice guidelines on communicating reclassified results to patients and limited genetic counselor (GC) bandwidth has led to inconsistent disclosure practices and potential inequities in patient care. This cross‐sectional study aimed to capture patient preferences for communication of VUS reclassifications. We surveyed 224 adult patients and parents/primary caregivers of pediatric patients with a VUS result from a general genetics clinic. The online survey included questions on preferred disclosure methods for VUS results downgraded to (likely) benign (dVUS) versus upgraded to (likely) pathogenic (uVUS), and perceived benefits of these methods. For dVUS, the largest group of participants preferred written disclosure (52.7%) with email being the most favored modality (71.4%). However, those with a non‐English primary language and lower education preferred verbal disclosure ( p = 0.015 and p = 0.005 respectively). For uVUS, the largest proportion of participants (51.3%) preferred a sequential combination of written followed by verbal disclosure, with phone call (72.3%) and email (70.5%) being the preferred verbal and written modalities, respectively. Participants favored a verbal disclosure component for uVUS more than for dVUS ( p = 0.002). Perceived benefits of a written disclosure included providing documentation (71.4%) and clarity of information (70.5%) while the primary benefit of verbal disclosure was the ability to ask questions (82.7%). Overall, most patients found written disclosure sufficient for dVUS and preferred a sequential combination of written followed by verbal disclosure for uVUS, suggesting a need to process information before speaking with a clinician. This study offers patient‐driven insights on optimizing communication methods for VUS reclassification disclosures, aiming to minimize GC burden and patient care disparities.
Brush et al. (Thu,) studied this question.