ArticleCommunications medicine2026
A comparative survey of functional evidence use in hearing and vision loss genetics.
Article in Communications medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDespite advances in sequencing and standardized guidelines, many variants, particularly in genetically heterogeneous disorders such as hearing and vision loss, remain of uncertain significance. Multiplexed assays of variant effects (MAVEs) offer a solution to resolve these uncertainties, but their clinical integration is limited. We aimed to assess the utilization of functional evidence in hearing and vision loss genetics.
methodsWe surveyed 82 hearing and ocular genetics experts, collecting quantitative and qualitative data on their practices, confidence in functional assays and perceived barriers to integrating functional evidence into clinical workflows.
resultsHere we show that hearing and vision loss experts frequently encounter variants of uncertain significance and note that functional data often fails to resolve uncertainty due to limited availability or inconsistent quality. Confidence is highest in transcript assays, patient-derived cell models and computational predictors, while familiarity and trust are lower for non-mammalian models and high-throughput assays like MAVEs. Respondents highlight the need for improved data accessibility, standardized evaluation guidelines and training to support functional evidence integration.
conclusionsOur survey identifies both common and domain-specific challenges in applying functional evidence for variant classification in hearing and ocular genetics, emphasizing the need for frameworks that account for biological complexity, methodological limitations, and barriers to data accessibility.
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Registered trials
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