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Updated ACMG Recommendations to Allow Patient Opt Out of Incidental Findings

NEW YORK (GenomeWeb News) – The American College of Medical Genetics and Genomics is updating its recommendations on the return of incidental findings results to individuals who have had their genomes or exomes sequenced in the clinical setting.

In a statement issued this morning, the ACMG said its new guidelines would make it possible for clinical sequencing patients to opt out of receiving information on alterations not related to the diagnosis at hand. The group reportedly reached the decision based on feedback from its members, including a survey that was discussed at a business meeting held during the annual ACMG conference last week in Nashville, Tenn.

As reported in GenomeWeb Daily News on Friday, a panel discussion held at that meeting addressed the ACMG's incidental findings so far. There, much of the focus was also on the issue of allowing patients to opt out of receiving information on incidental findings related to a specified set of genes.

"There appears to be a consensus among ACMG members that patients should have an opportunity to opt out of the analysis of medically actionable genes when undergoing whole exome or genome sequencing," ACMG said in today's statement.

"While the ACMG Board still considers [incidental findings] to be important medical information that can be a great value to families, it has voted to recommend that such an 'opt out' option be offered to patients who are considered candidates for clinical genome-scale sequencing."

The ACMG's original recommendations, released at its annual meeting in Phoenix last year, urged analysis and reporting on potentially damaging but not diagnostically related variations in a set of 56 genes that have been associated with the risk of various medical conditions — from various forms of cardiomyopathy to breast and ovarian cancer.

The newly revised guidelines will allow patients to request that those genes not be analyzed at the time that their exomes or genomes are sequenced in the clinic.

"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 [for] clinical exome or genome sequencing," ACMG President Gail Herman said in a statement.

Within this framework, the onus will fall on the clinician who requested clinical sequencing to explain the opt-out option and its potential drawbacks or benefits while obtaining informed consent for clinical sequencing.

The most recent guidelines do not address the full suite of issues involved in applying genome and exome sequencing in the clinic, Herman explained, noting that ACMG will continue to consider and refine its recommendations based on feedback from members and discussion in the medical genetics community.

"It was our understanding from the beginning and was stated in the [original recommendations] that they would evolve over time," she said in a statement. "The ACMG is committed to working to ensure that promising new technologies are used now and in the future for the benefit of our patients and their families."

Current and future updates to the ACMG's clinical sequencing guidelines will be conveyed directly to members and published in the journal Genetics in Medicine, where the group's initial incidental findings recommendations appeared last spring.