Risk categorization for oversight of laboratory-developed tests for inherited conditions

This document represents the proposed approach of the American College of Medical Genetics and Genomics (ACMG) to classify laboratory-developed tests for inherited conditions. Risk classification has been the determinant of whether or not medical tests are overseen and regulated by the US Food and Drug Administration (FDA). Therefore, because laboratory-developed tests for germline mutations continue to proliferate without sound regulatory frameworks in place, an ACMG-appointed workgroup of laboratorians and clinicians considered the medical risks and implications resulting from germline mutation analysis in a variety of contexts to develop the proposed approach. It is expected that the expert opinion represented in this proposed classification system will be used to guide federal agencies, policymakers, and other stakeholders. The ACMG has categorized testing for inherited conditions by utilizing the three-tiered risk-based system (Table 1), as Risk categorization for oversight of laboratory-developed tests for inherited conditions