Abstract
Public variant databases support the curation, clinical interpretation, and sharing of genomic data, thus reducing harmful errors or delays in diagnosis. As variant databases are increasingly relied on in the clinical context, there is concern that negligent variant interpretation will harm patients and attract liability. This article explores the evolving legal duties of laboratories, public variant databases, and physicians in clinical genomics and recommends a governance framework for databases to promote responsible data sharing.Genet Med advance online publication 15 December 2016
Highlights
Human variant databases support the aggregation, curation, and sharing of data on disease-associated variants.[1,2,3,4] Variant databases curate the literature and facilitate access to unpublished variant classifications generated in diagnostic laboratories
Public variant databases are increasingly relied on during genomic testing to clarify the clinical significance of variants in support of diagnosis or targeted treatment.[5]
The BRCA Exchange Web Portal is the first product of the BRCA Challenge, an international collaboration to improve our understanding of the genetic causes of breast and ovarian cancer and to make this information publicly available and accessible
Summary
Adrian Thorogood, BCL, LLB1, Robert Cook-Deegan, MD2,3 and Bartha Maria Knoppers, PhD4. The relationship between interpretation and communication raises issues about causation.[20] In addition to fault, Williams must prove the misclassification caused premature death This proof is hindered by the intervention of a physician (was it reasonable for Christian’s physician to base a treatment decision on the report?), which may break the chain of causation and scientific uncertainty (would a change of treatment have prevented the fatal seizure?).[21] These uncertainties over causation are even more pronounced for misclassified data sharing through a variant database. Clinicians using variant databases are held to professional standards They are expected to be up to date about the state of knowledge and limits of the data in databases, as they are with test reports.[20] They continue to have a duty to interpret a variant classification in the context of an individual patient, e.g., by reviewing the literature, taking into account family history, or ordering follow-up tests for family members. This can be achieved, in part, with clear site descriptions, submission agreements, and terms of use agreements (see Figure 1)
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