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While Gabriel Watts and Ainsley Newson argue that diagnostic laboratories do not have a general duty to routinely reinterpret genomic variant classifications, they do formulate several restricted duties to actively reinterpret specific types of classifications.1 They place these duties with laboratories, acknowledging that they are setting aside any responsibilities that might arise for clinicians. Here, we will discuss the implications of this obligation for clinicians and the moral tension it may confront them with. We focus in particular on the consequences of the proposed moral obligation to actively reinterpret variant classifications that carry a higher risk of being false positives. Such reclassification is likely to result in ‘downgrades’: previously pathogenic variants (pathogenic/likely pathogenic, P/LP) reclassified to benign (likely benign/benign, LB/B) or uncertain variants (variant of uncertain significance, VUS).
Any laboratory policy to actively reinterpret (specific sets of) classifications will confront the clinician with the question whether the person tested should be recontacted on a reinterpretation of previously reported results. As others have pointed out, recontacting in general comes with challenges, since patients may not want to be recontacted or have forgotten about their genetic test.2 3 Recontacting in case of a downgrade, however, is particularly impactful.
Previous studies on the psychosocial impact of reclassification on patients …
Contributors All authors meet all four ICMJE criteria for authorship for this proposal.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.