A dermatologist’s misdiagnosis of a patient with Lynch syndrome, a type of inherited cancer predisposition syndrome, led to unnecessary colonoscopies and healthcare expenses. The patient had multiple skin tumors, one of which was genetically tested, revealing the loss of MLH1/PMS2 that caused the dermatologist to suspect Lynch syndrome. However, subsequent genetic testing for Lynch syndrome and other inherited conditions came back negative. Despite this, the dermatologist continued to diagnose the patient with Lynch syndrome, leading to annual cancer screenings and colonoscopies, which cost around $3,000 each. The case highlights the importance of proper diagnosis and genetic counseling in preventing unnecessary medical procedures and expenses.
Read the full article here.