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New genome sequencing recommendation enables patients to opt out of genetic disease testing

7 April 2014
Appeared in BioNews 749

The American College of Medical Genetics and Genomics (ACMG) has updated its position on the return of results from genome sequencing to allow patients to opt out from receiving incidental information from genetic tests.

The ACMG, a professional body for clinical geneticists in the USA, recommended last year that whenever a patient underwent whole exome or genome sequencing then a minimum list of conditions, genes and variants should be analysed and routinely reported to the ordering clinician, even if they were unrelated to the risk that had justifying the sequencing to begin with (reported in BioNews 698).

Explaining its recommendation at the time, the ACMG stated: 'We recognise that this may be seen to violate existing ethical norms regarding the patient's autonomy and "right not to know" genetic risk information'.

'However [...] we felt that clinicians and laboratory personnel have a fiduciary duty to prevent harm by warning patients and their families about certain incidental findings and that this principle supersedes concerns about autonomy'.

In a recent statement, however, the ACMG acknowledged there had been 'significant discussion' around the 'initial' recommendations and that it had listened carefully to its members' views, which showed a 'consensus [...] that patients should have an opportunity to opt out of the analysis of medically actionable genes'.

The updated recommendation allows patients to be able to 'opt-out' of learning about how their DNA might increase their risk of developing an array of different diseases, at a much earlier point in time.

Dr Gail Herman, president of the ACMG announced, 'This update to our recommendations moves the opt-out discussion to the point where the sample is sent rather than at the time when results are received by the ordering clinician, as was originally recommended'.

The original recommendation was seen to be highly controversial in terms of how restrictive it appeared upon patient choice and upon the patient's right to be protected against the effects of possessing potentially life-altering information.

Furthermore, James Evans, director of Adult Genetics Services at the University of North Carolina and a board member of the ACMG told Scientific American that the original recommendation had 'also put doctors in a sticky position [...] since a finding could come back that the doctor felt the patient should know about, while the doctor's hands were tied from revealing it' if the patient did not subsequently wish to find out.

Dr Herman notes, however, 'There remain many complex issues to be addressed regarding implementation of genome-scale sequencing in clinical care', particularly as the price of genetic testing becomes much cheaper and the number of conditions that researchers are able to test for grows.

ACMG Updates Recommendation on "Opt Out" for Genome Sequencing Return of Results (pdf)
American College of Medical Genetics and Genomics (press release) |  1 April 2014
In Reversal, Genetics Group Says Patients Should Be Allowed to Refuse 'Incidental' Findings
ScienceInsider |  1 April 2014
Patients Can Now Choose Not to Know Their Own DNA Secrets
Scientific American |  1 April 2014
The Right to Not Know
The Scientist |  2 April 2014
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