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Not Forgotten: Patient Experiences with Genetic Variant Reclassifications
Patients want clear communication about genetic variant reclassification. Receiving updated genetic test results was seen as personalized care, reinforcing trust in genetic testing and research.
Area of Science:
- Clinical Genomics
- Patient Experience Research
- Genetic Counseling
Background:
- Genetic variant reclassification is common in clinical genomics.
- Limited data exist on patient experiences with re-contact and reclassification.
Purpose of the Study:
- To explore patient experiences with genetic variant reclassification.
- To understand emotional responses and communication preferences.
- To assess the perceived value of genetic testing after reclassification.
Main Methods:
- Semi-structured qualitative interviews with 20 adult patients.
- Thematic analysis using Template Analysis.
- Exploration of emotional responses, communication, and perceived value.
Main Results:
- Patients desire improved communication regarding timing, modality, and context of reclassified results.
- Most patients found genetic testing worthwhile despite its evolving nature.
- Reclassification was often viewed as personalized, ongoing care, enhancing trust.
Conclusions:
- Variant reclassification signals personalized, ongoing care.
- Patient-centered re-contact practices can reduce uncertainty and strengthen trust.
- Effective communication is key to managing patient expectations and maintaining confidence in genetic testing.
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