The CDC’s Office of Public Health Genomics (OPHG) developed a framework for considering the validity and utility of emerging genetic tests, which has been widely adopted by the biomedical community. The ACCE model encompasses four areas: analytic validity (How accurately and reliably the test measures the genotype of interest), clinical validity (How consistently and accurately the test detects or predicts the intermediate or final outcomes of interest), clinical utility (How likely the test is to significantly improve patient outcomes) and ethical, legal, social implications that may arise in the context of using the test.
Analytic validity is usually in the purview of the testing laboratory that ensures accurate detection and reporting of the assay results. The bigger challenge is establishing clinical validity and utility, a process that requires data curation from the primary scientific literature.
Building the evidence for genomic tests
Several groups curate, evaluate and synthesize evidence from published research supporting clinical validity and utility of tests to guide clinicians.
CDC Office of Public Health Genomics: Guidelines, Policies and Recommendations in Genomics
The CDC compiles an updated list of guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups. The list is arranged by topics, year of publication and recommending organization. The list may not include all relevant recommendations.
Clinical Pharmacogenetics Implementation Consortium (CPIC)
Provides dosing guidelines for patients who have undergone pharmacogenomic testing for specific drugs.
PLoS Currents: Evidence on Genomic Tests
An online, open access journal publishing evidence reviews and recommendations on genomic tests.
Evidence Aggregator (GAPPKB)
An application that facilitates searching for evidence reports, systematic reviews, recommendations or guidelines in genetic tests and genomic applications.
Based on an initiative of the German Society of Human Genetics, a template for assessing and describing “indication criteria for genetic testing” was developed, and a series of corresponding guidelines are published in the European Journal of Human Genetics and are now being referred to as Clinical Utility Gene Cards (CUGCs).
UK Genetic Testing Network
Evaluation of new genetic tests that member laboratories wish to provide to NHS patients on a national basis. Examines scientific validity and clinical utility and make recommendations to commissioners. Published as Gene Dossiers.
GeneReviews are expert-authored, peer-reviewed disease descriptions presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.
National Guidelines Clearinghouse
NGC is a public resource for evidence-based clinical practice guidelines.