Document Type
Article
Publication Title
Genetics in Medicine
Publication Date
1-2021
ISSN
1098-3600
Page Number
833
Keywords
genomics, genetic variants, genomic data, ethical duties
Disciplines
Law | Medical Jurisprudence
Abstract
Knowledge about the clinical implications of individual genetic variants, genes, and genomics is growing rapidly. As a result, interpretations that were made at one time may later turn out to be incorrect. Awareness of these changes in results can occur in two ways. In the first case, the laboratory initially identified and reported a variant, assigning it some level of disease causation ranging from pathogenic to uncertain significance to benign. Subsequently acquired knowledge then reveals that the variant that was reported is now understood to have a different interpretation, most frequently more benign. In the second case, the laboratory may need to examine the original sequence data to identify variants that had not previously been reported but that have subsequently been classified as likely pathogenic or pathogenic. In either case, someone (whether the provider or the lab) must re-examine the original results.
Recommended Citation
Ellen W. Clayton, Wendy K. Chung, Gary E. Marchant, and Jessica L. Roberts,
Does the Law Require Reinterpretation and Return of Revised Genomic Results?, 23 Genetics in Medicine. 833
(2021)
Available at: https://scholarship.law.vanderbilt.edu/faculty-publications/1608
