The ACMG Gene Screening Recommendations

57 sauceIn March, the American College of Medical Genetics and Genomics (ACMG) released its much-anticipated Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. The ACMG describes itself as “an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics.” Its brief mission statement includes a commitment to “Define and promote excellence in the practice of medical genetics and genomics in the integration of translational research into practice.” It publishes the journal Genetics in Medicine, and has previously issued “standards and guidelines” for clinical genetics laboratories and cystic fibrosis carrier screening.

The core recommendation is straightforward: “The ACMG recommends that for any evaluation of clinical sequencing results, all of the genes and types of variants in the Table should be examined and the results reported to the ordering physician.” Reading this in light of the definitions section and the rest of the report, it seems to mean this: Whenever a lab is requested to do any “clinical sequencing” (more below on what this means), it should examine the 57 genes listed on the Table and report any significant mutations it finds. It is the responsibility of the clinician who ordered the initial sequencing “to provide comprehensive pre- and post-test counseling to the patient.” In what has become the most controversial aspect of the Recommendations, the ACMG recommends the test findings “be reported without seeking preferences from the patient and family and without limitation due to the patient’s age.” In other words, patients should be given the 57-gene screening whether they want it or not and told the results even if they say they don’t want them—in effect, if you consent to any clinical sequencing, you automatically consent to this further screening and to hearing the results. The same holds true for the parents of minor patients.
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Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Genomic Sequencing, Genomics & Medicine

Undeterred by the Supreme Court, Myriad Starts Suing

GLR-HandAs soon as the Supreme Court issued its decision in AMP v. Myriad Genetics, Myriad issued public statements saying that it had many surviving patents that would perpetuate its BRCA testing monopoly. We may now find out if that’s true.
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Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Genomics & Medicine, Genomics & Society, Myriad Gene Patent Litigation, Patent Litigation, Patents & IP