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The results of tests carried out using next-generation genomic sequencing (NGS) possess a peculiar and perhaps unique ‘diagnostic durability’. Unlike most other forms of testing, if genomic results or data are stored over time, then it remains possible to interrogate that information indefinitely, without having to retest the patient. Another peculiar property of genomic results is that their interpretations are subject to change within relatively short time frames. For instance, a genomic variant that is of uncertain significance (VUS) at the time of testing may shortly afterwards come to be understood as pathogenic (P) or benign (B). Moreover, variant classifications might be downgraded from likely pathogenic to VUS or B, or regraded from B to VUS.
These two properties of genomic testing have important implications for the responsible implementation of genomic testing in healthcare. One of these is that they prompt the question whether diagnostic laboratories are morally required to routinely reinterpret their genomic variant classifications and reissue patient reports in the case of materially relevant changes. We take up this question in our paper, in which we argue against the existence of any general duty to reinterpret genomic variant classifications (as had been argued for by Appelbaum et al 1). Still, we maintain that a restricted duty to reinterpret ought to be recognised.2
We thank the authors of the commentaries on our paper for their attention to our argument and for their thoughtful responses to (and expansions of) our position. Oerlemans et al address …
Funding This study was funded by Australian Genomics (NHMRC grants GNT1113531 and GNT2000001).
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.