Why CGI? 2020-11-05T12:22:23+00:00


You, or someone you know, will have a genetic test ordered by a clinician this year. Between 0.1% – 50% of these tests will be positive, depending on the circumstance. For many diseases, more than half of these positive results may be incorrect leading to unnecessary surgeries, medications, or even pregnancy terminations. CGI has formed as a deep tech humanitarian organization to improve the accuracy of genetic testing.

Please watch the short video below from a patient and read the quotes below from other experts explaining the source of the inaccuracy crisis in genetics.

Please donate to CGI now to help improve genetics and save lives.



The literature is riddled with false claims of pathogenicities from researchers who have not done a good job of interpretation.

Wall Street Journal, Aug 17, 2016

Heidi Rehm, PhD FACMG, Broad Institute/Harvard Medical School

This is the proverbial dark side of genetic testing and precision medicine… we’re starting to see a lot of fumbles… As many as 30 percent of mutations associated with disease aren’t. We’re going to have to do a lot of clean-up work.

STAT, October 31, 2016

Michael Ackerman, MD, PhD, Mayo Clinic

Even after you remove all the obvious errors from the databases, there’s still a long tail of wrongness.

The Atlantic, Dec 16, 2015

Daniel MacArthur, PhD, Broad Institute/Harvard Medical School
There needs to be more transparency and accuracy from the companies about what their results mean.
New England Center for Investigative Reporting, Dec 14, 2014
Mary Norton, MD, University of California San Francisco

The worry is women are terminating [pregnancies] without really knowing if [the initial test result] is true or not.

New England Center for Investigative Reporting, Dec 14, 2014

Athena Cherry, MD, Stanford University

If you look at these genes that are likely to be important for therapy, these so-called actionable genes, you find out about a third of these variants were false positives… The danger for a particular patient is that a physician will use these false positive changes not knowing they’re false positives to either guide therapy or place a patient on a particular clinical trial. 

Scientific American, Apr 15, 2015

Victor Velculescu MD, PhD, Johns Hopkins University

Our ability to sequence genes has gotten ahead of our ability to know what it means.

NY Times, March 11, 2016

Eric P. Winer, MD, Dana-Farber Cancer Institute/Harvard Medical School

In Summary…

Genetic testing is now standard clinical practice since 8% of Americans are believed to have a genetic disease. Yet few clinicians or patients are aware of the current limitations of DNA sequencing interpretation. As demonstrated above, experts estimate that about 30% of unique positive genetic variants (mutations) in the reported clinical literature are false positives due to over-interpretation. For patients who get a positive clinical report, which often leads to the official diagnosis of a genetic disease, this error rate in the literature means that more than half of positive clinical reports are incorrect, because often somewhat common variants are false positives and can impact many people. (Positive reports will cite Pathogenic or Likely Pathogenic variants). For a few well studied genetic diseases the error rates are low, but for most genetic diseases the error rates are high. CGI estimates that over 100,000 families are impacted by these interpretation false positives each year in the USA, which may result in unnecessary surgeries, ineffective medications, and sometimes erroneous family planning decisions or even medically-advised pregnancy terminations based on incorrect genetic results.

CGI knows how to fix the existing variant interpretation problems. CGI is a 501(c)(3) nonprofit humanitarian science organization founded to work with testing laboratories, patients, clinicians and health insurance companies to drive the changes necessary to improve the accuracy of genetic variant interpretation.

Please donate to CGI now so that together we can rapidly correct and improve care for countless families, and save the lives of many thousands of children.

Visit CGI’s FAQs for literature references.