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ACMG Recommendation :

ACMG Recommendation :. A ll laboratories conducting clinical sequencing should seek and report expected pathogenic mutations for a short list of carefully chosen genes and conditions. Minimal List Establishes a precedent for reporting incidental findings R ecommendation, not a requirement.

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ACMG Recommendation :

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  1. ACMG Recommendation: All laboratories conductingclinical sequencing should seek and report expectedpathogenic mutations for a short list of carefully chosen genes and conditions. • Minimal List • Establishes a precedent for reporting incidental findings • Recommendation, not a requirement

  2. Why did ACMG feel there was a need for guidance? Lack of consistency and consensus on what to report in the face of growing clinical use of whole exome and genome sequencing for specific indications (unsolved developmental delay, unexplained familial cancer, etc.)

  3. What’s in The ACMG Report • Defines obligations of laboratories to report incidental findings that meet ahigh threshold of clinical utility (high penetrance, presymptomatic intervention beneficial) • Acknowledges this is a “Work in Progress” and recommends a mechanism for ongoing review/revision

  4. The Report is Not Without Controversy

  5. The Report Asks for To Much • Report does NOT say: Patients should be forced to learn information they may not want to know • Report does say: These are recommendations for LABORATORIES, who have little if any relationship with the patient, and NOT for the PHYSICIAN whose professional relationship led to ordering the test.

  6. The Report Contradicts Previous Testing Policies for Children • Report does NOT recommend overriding the autonomy of children deciding whether to be tested when families know the children are at risk for an adult onset disease • Report does weigh (i) the beneficence of alerting families of risk versus (ii) respecting the child’s decision making autonomy when families do not even know they are at risk.

  7. The Report Asks for Too Little The authors left out: • Pharmacogenetic variants • Carrier state for recessive disorders • Variants of personal utility but with +/- actionability

  8. The Report Was Developed in an Ivory Tower with No Outside Input • Authors spent over a year discussing the issues • Authors reached out to a panel of domain-specific experts • Authors held public fora

  9. http://www.sciencemag.org/content/early/recent / 16 May 2013 / Page 1/ 10.1126/science.1240156

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