Julia el Mecky |
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02.08.2018-28.09.2018
Variants of uncertain significance and incidental findings: Patients' and healthcare professionals' experiences and social & ethical dilemmas in the context of new genetic technologies
Phase 1. Empirical study of patient and healthcare professionals’ experiences and issues in the context of VUS and IFs
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Establish, through observation of clinical practice, focus groups, and semi-structured interviews, the range of current clinical practice in the context of VUS and IFs, specifically healthcare professionals’ procedures and decision-making related to informed consent and disclosure of VUS and IF results.
- Map, through observation and semi-structured interviews, patients’ and (in case of minors) parents’ experience of receiving IF and VUS results, particularly focusing on interpretation and understanding of results, conceptualization of risk, and impact on everyday life as well as major life decisions.
Phase 2. Use this empirical study (phase 1) to inform clinical practice and policy
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Explore the possibilities and limitations of involving patient preferences in disclosure practices of VUS and IF results (to what extent is shared decision-making between patients and doctors feasible and beneficial?).
- Explore possibilities and ethical ramifications of involving patients in a project concerning patient-driven reclassification of VUS. This entails providing patients and patients’ parents who have received a VUS result with a formal infrastructure to pass on information to clinicians about their own or their child’s symptoms. This could help clinicians in the long term to determine whether a VUS is pathogenic or benign, as policies and measures which stimulate data sharing can accelerate the pace of VUS interpretation.(7)
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Establish, through observation of clinical practice, focus groups, and semi-structured interviews, the range of current clinical practice in the context of VUS and IFs, specifically healthcare professionals’ procedures and decision-making related to informed consent and disclosure of VUS and IF results.