Center for Genomic Interpretation

Our nonprofit mission is to save and improve lives by encouraging careful stewardship of clinical genetics, genomics, and precision medicine.

“Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.”


“Regulation of Genetics Tests”. National Institutes of Health – National Human Genome Research Institute. https://www.genome.gov/about-genomics/policy-issues/Regulation-of-Genetic-Tests

“Though CLIA does look at the analytical validity of genetic tests, it does not examine whether the tests performed are clinically valid.”


“Regulation of Genetics Tests”. National Institutes of Health – National Human Genome Research Institute. https://www.genome.gov/about-genomics/policy-issues/Regulation-of-Genetic-Tests

In a comparative performance evaluation of next generation sequencing (NGS) oncology tests, only 37% of clinical laboratories detected all of the important mutations. “Most [detection] errors were false negatives.”


Pfeifer JD, et al. “Reference Samples to Compare Next-Generation Sequencing Test Performance for Oncology Therapeutics and Diagnostics.” American Journal of Clinical Pathology, 157(4):628–638, Apr 2022. https://academic.oup.com/ajcp/article/157/4/628/6454342

“The process of variant classification is not regulated in any meaningful way by CLIA or CAP, and “FDA-approved” NGS tests often have major portions of the test that are not actually regulated in a way that would safeguard against misclassified variants.”


Giles HH, et al. “The Science and Art of Clinical Genetics Variant Classification and Its Impact on Test Accuracy.” Annual Review of Genomics and Human Genetics Vol. 22:285-307. August 2021. https://www.annualreviews.org/doi/abs/10.1146/annurev-genom-121620-082709

“Genetic/genomic tests with fraudulent technical and clinical claims from many laboratories have flourished in recent years, with billing fraud also plaguing the industry.”


Eggington JM. “Precision Medicine Fraud: Understanding and Addressing Clinical Accuracy and Billing Irregularities Related to Genetic Testing.” National Health Care Anti-Fraud Association meeting abstract. July 8th 2021. https://www.nhcaa.org/events/precision-medicine-fraud-understanding-and-addressing-clinical-accuracy-and-billing-irregularities-related-to-genetic-testing/

Our Services

CGI helps stakeholders realize value and improve patient safety in clinical genetics, genomics and precision medicine.

Providing the metrics needed by stakeholders to identity the most accurate and clinically efficacious genetic and genomic tests

Fact checking the evidence used by laboratories to clinically classify genetic variants

Unique contracts tailored to the needs of stakeholders

Precision medicine only works if the diagnostics guiding patient care are accurate.

“Our independent, nonprofit organization provides the needed expertise and services to help stakeholders identify genetic and genomic tests with high accuracy and clinical efficacy, which regulations and existing accreditations do not ensure. Too frequently the precision medicine goals of patients, clinicians, payers and drug developers are unknowingly thwarted by inaccurate or ineffective genetic or genomic testing. We facilitate the realization of value from precision medicine.”

-Julie M. Eggington, M.S., Ph.D., Co-founder and CEO of the Center for Genomic Interpretation

As part of CGI’s nonprofit mission, some education and patient support programs are supplemented by public donations and foundation grants.

Who We Serve

You’re in good company

and many others…

Our experienced experts are passionate about helping stakeholders ensure that patients, plan members, and consumers receive accurate results from genetic and genomic testing.