The PHG Foundation were among many vocal critics of this stance within the genomics and health communities, arguing that mandatory disclosure even of a small subset of rare potential incidental findings would remove the right of a patient not to know about genomic disorders other than those being sought via clinical genome sequencing (see previous news).
Now the ACMG says it has ‘listened carefully’ to views and ‘appreciates the many forums in which divergent and valuable opinions have been expressed’ before concluding that among their own membership there ‘appears to be a consensus’ that patients should have an opportunity to opt-out of the analysis of medically actionable genes as an adjunct to whole exome or genome sequencing.
This is a welcome development, suggesting that the ACMG is indeed listening to the views of its members and strengthening their position as a significant voice in the ongoing debates surrounding the optimal implementation of genomic medicine. It also brings the official US stance on incidental findings broadly into line with that of Europe and the UK.
The European Society for Human Genetics (ESHG)
says that in some cases health professionals may have to disclose a finding of serious medical import, even if it violates a patient’s right not to know, but this is very different from imposing mandatory additional genomic tests, which the PHG Foundation has always maintained is akin to imposing compulsory opportunistic screening, requiring a different (and explicit) consent procedure. The ESHG generally favours restricting genomic analysis to minimise incidental findings.
Of course, the list of conditions for which the ACMG proposed effective screening is a sensible and conservative one, comprising well-characterised and highly penetrant genetic disorders with opportunities for medical interventions to prevent or minimise harm; most if not all patients and clinicians are likely to be all in favour of these genes being scrutinised within the context of whole genome or exome sequencing. However, reversing the previous ACMG position that ‘clinicians and laboratory personnel have a fiduciary duty to prevent harm by warning patients and their families about certain incidental findings’ and maintaining the principle of patient autonomy is felt by many to be a very important move.