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As chair of the Whole Genome Analysis Working Group of the Association For Molecular Pathology’s Clinical Practice Committee I would like to provide the following in response to the post by Drs. Jones and Park entitled “Horseshoes and Hand Grenades: Twenty-First Century Regulatory Requirements for Genomic Testing. The authors outline the basis of their opinion that regulatory requirements for genetic testing are insufficient and do not adequately address test validation. They suggest that as a result, genomic testing cannot meet acceptable quality standards.
CLIA certification requirements have recognized that laboratories providing genomic testing must comply with quality standards, and CLIA has appropriately designated laboratories meeting such standards as “qualified to perform high complexity testing”. In addition to CLIA regulations, the standards set forth by the College of American Pathologists (CAP) have a vastly expanded and more detailed scope of requirements: CAP accreditation requires compliance with a molecular pathology - specific checklist of standards which encompasses a number of criteria including molecular test validation, ongoing quality systems management, and personnel training and experience necessary for clinical genomic testing. These “gold standard” regulatory foundations for laboratory medicine must continue to evolve to keep pace with the technological advancements being made available to clinical molecular laboratories. Despite temporary shortcomings, their current inadequacies in no way constitute a disregard for the complex quality issues including test validation associated with genomic testing by those responsible for the conduct and interpretation of such tests. Rather, the complexities of ongoing quality assessment above and beyond the blueprints provided by CLIA and CAP, which in the interim apply to genetic as well as genomic testing and require highly detailed quality assessment, have already been recognized and the molecular pathology professional community has responded. Collaborative efforts coordinated by the Association for Molecular Pathology (AMP), (CAP), the American College of Medical Genetics (ACMG), and other professional societies whose members provide such clinical testing services are underway to continually assess and update regulatory standards for clinical genomic testing .
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