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ACMG Updates Policy on Secondary Sequencing Findings; Member Survey Reveals Dissent on Children

NEW YORK (GenomeWeb) – The American College of Medical Genetics and Genomics last week updated its recommendations for the analysis and reporting of secondary findings from clinical genome-scale sequencing and released the results of a survey of its members about its initial recommendations from 2013.

Notably, the ACMG's new policy statement recommends that secondary findings, previously referred to as incidental findings, should be reported in the same way for children and adults, based on recent recommendations by the Presidential Commission for the Study of Bioethical Issues as well as "a lack of clear consensus in the ACMG membership survey."

According to the statement, written consent for clinical exome or genome sequencing should be obtained by a "qualified genetics healthcare professional" who explains the nature of the test and addresses interpretive uncertainty, privacy, possible impact on family members, and the generation of data not immediately relevant to the indication for the test. Patients should be made aware that testing labs will routinely analyze a set of genes deemed to be "highly medically actionable" for pathogenic mutations that could predispose him or her to "a severe but preventable outcome."

Consistent with ACMG's policy update earlier this year, patients should be able to opt out of the analysis of this gene set, but "should be made aware at that time of the ramifications of doing so."

The policy should be applied to children as well as adults, but parents should have the option to opt their children out of the actionable gene set analysis.

The ACMG advised at this time against letting patients choose a subset of medically actionable genes to be analyzed, "given the practical concerns and inherent difficulty of counseling patients about the features of each disorder and gene on an ever-changing list."

"The ACMG recognizes the complex nature of policies surrounding genome-scale testing and that [its] positions will continue to evolve and change in response to new knowledge, new technologies, and ongoing input and discussion with our membership and the broader medical community," according to the statement. The organization has formed a multidisciplinary working group to develop a process for updating and maintaining the list of genes to be routinely analyzed for secondary findings.

The ACMG member survey, conducted earlier this year, was mailed to almost 1,700 individuals and had a response rate of 29 percent.

"Most [participants] agreed that seeking and reporting of secondary findings in the ACMG list of genes is consistent with medical standards, has sufficient evidence, and for adults, the benefits generally outweigh potential harms," Maren Scheuner, a researcher at the University of California, Los Angeles, and lead author of the survey report, said in a statement. "However, there was lack of agreement regarding benefits versus harms for children, and lack of agreement about the potential impact on healthcare resources."

Scheuner added that "contrary to the original 2013 ACMG recommendations, the majority of respondents agreed that patient preferences regarding seeking and reporting of seconding findings should be considered when clinical exome or genome sequencing is pursued, including the ability of patients to opt out of receiving a sequencing report with such findings."

Going forward, ACMG plans to use the term "secondary findings" instead of "incidental findings" but will not change earlier documents and recommendations retroactively.