Labs Begin to Implement ACMG’s Incidental Findings Recommendations
The American College of Medical Genetics and Genomics’ (ACMG’s) April recommendations for the reporting of incidental findings uncovered in the course of clinical whole-exome and -genome sequencing kicked off a firestorm of debate pitting laboratories’ duty to report versus a desire to preserve patient autonomy. While heralded as a starting point for establishing a common foundation for reporting clinical sequencing findings, the recommendations were also criticized as being premature given a lack of evidence on the frequency of incidental findings and patient preferences. In an investigation of how laboratories are addressing the recommendations, DTTR found that most laboratories are still allowing for patients to opt out of reporting but that all laboratories have provisions for reporting incidental findings. Experts are viewing these recommendations as a first attempt to address the ethical and practical issues of reporting incidental findings but expect standardization of sequencing analysis and reporting practices to evolve over the coming years as penetrance of variants is better understood, nongeneticist clinicians are more comfortable with incorporating genomics into medical practice, and practical considerations such as reimbursement, genomic data storage, and consent issues are worked out. The recommendations call for mandatory reporting of a minimal set of incidental findings, where […]
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