Pathogenic (path-oh-JEN-ik) means capable of causing disease. In genetic testing, a variant is called pathogenic when there is strong scientific evidence that it causes a particular disease. This word appears frequently in CMT genetic test reports: a variant found in a gene is either judged pathogenic for CMT, judged not pathogenic (benign), or left uncertain as a VUS.
When Medicine Lost Its Compass
Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
