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The 5th ELSI Congress - ELSIcon2022

ELSIcon2022 Panel: Ethical, Clinical, Legal, and Economic Issues Surrounding Genetic Variant Reinterpretation


ELSIcon2022 • Panel • June 3, 2022

Paul Appelbaum, Wendy Chung, Gary Marchant, Jose Pagan

The knowledge base for interpreting genetic variants changes as new cases are reported, population data become available, and computational tools evolve, leading to changes in variant classification. However, there is no consensus on whether, when or how clinicians and laboratories should conduct variant reinterpretation. How can policies on reinterpretation be aligned and optimized? In a multi-faceted project addressing this issue, we have conducted focus groups and online surveys, and will present analyses of the ethical, clinical, legal, and economic issues:Ethical: After analyzing ethical arguments for and against a duty to reinterpret, we will explain why a duty should be recognized. We will identify four elements of the proposed duty and consider its reasonable extent and duration, and the role of patients' consent. Clinical: We will review the landscape of clinical genetic testing and outline the medical implications of variant reinterpretation, defining the scope and magnitude of the clinical problem. Then, we will review focus group and survey results from genetic laboratory personnel, genetic and non-genetic clinicians, and patients/parents. Legal: Clinical laboratories and physicians who order genetic testing could find themselves subject to legal duties related to variant reinterpretation. We will explore the potential application of both medical malpractice and ordinary negligence in these circumstances. Economic: Variant reinterpretation may change health care utilization pathways, with the resulting uncertainty complicating development of guidelines to inform payment and reimbursement policies. We will review key economic aspects of reinterpretation, evaluate who should pay, and address concerns about healthcare efficiency, equity, and access.


return of results
Genetic testing and screening

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