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A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
The so-called ACT sheets are one pagers that guide doctors on what to do after receiving a genetic test results for a patient.
The recommendations were developed by a working group of the AMP Clinical Practice Committee that included representatives from ACMG, ASCO, and CAP.