ACMG Issues Clarification Over Incidental Findings Guidance
By Dr Philippa Brice and Dr Ron Zimmern,
PHG Foundation
| 05. 07. 2013
The American College of Medical Genetics (ACMG) has released a
clarification of recent guidance issued on the subject of incidental findings in clinical genomics (see
previous news).
This document aims to address five specific issues that have provoked concerns among commentators: patient autonomy, children, clinical laboratory issues, communication of results, and prediction of disease risk.
The ACMG’s approach to patient autonomy drew the heaviest criticism from PHG Foundation experts (see
previous commentary), who found the recommendation that patients should be obliged to accept the feedback of incidental findings in the form of a set of specific disease-associated genetic variants as a condition of clinical genome sequencing ethically unacceptable. Whilst firmly acknowledging the potential clinical value of offering simultaneous analysis for the presence of these selected variants, the PHG Foundation concluded that failure to offer patients the ability to opt out of such testing or feedback of results was: ‘
a coercive strategy that should have no place in the modern practice of medicine’.
The ACMG has now released further information reiterating that the selected variants they specified...
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