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.
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