Description of Event or Problem · 1
THIS IS A MAN WHO WAS FOLLOWED BY HIS GASTROENTEROLOGIST BASED ON HIS STRONG FAMILY HISTORY OF COLON CANCER. THE GASTROENTEROLOGIST HAD TRIED TO CONVINCE THE PT TO HAVE GENETIC TESTING FOR SEVERAL YEARS, BUT THE PT WAS ANXIOUS AND CONCERNED AND POSTPONED TESTING. HE PRESENTED FOR A SCREENING COLONOSCOPY AND WHILE IN THE RECOVERY AREA AND STILL SEDATED, HE WAS ASKED TO SIGN A CONSENT FORM FOR GENETIC TESTING. FOUR WEEKS LATER, HE RECEIVED AN ENVELOPE FROM HIS DOCTOR'S OFFICE IN THE MAIL WITH A COPY OF HIS MSH2 POSITIVE TEST RESULTS. WRITTEN ON THE RESULTS WAS A NOTE FROM THE SECRETARY THAT READ, YOUR CHILDREN NEED GENETIC TESTING WHEN TEENAGERS. YOU WILL NEED A COLONOSCOPY IN ONE YEAR. THE SON HAD ALREADY HAD A PRECANCEROUS COLON POLYP REMOVED DURING A COLONOSCOPY WITH THE SAME PHYSICIAN. THERE WAS NO MENTION OF THE ASSOCIATED RISKS OF UTERINE, OVARIAN, URINARY TRACT AND OTHER CANCERS SEEN WITH MSH2 MUTATIONS AND THE APPROPRIATE SCREENING AND RISK REDUCTION OPTIONS FOR THESE CANCERS FOR HIM AND HIS AT-RISK FAMILY MEMBERS. THERE WAS NO RECOMMENDATION FOR GENETIC COUNSELING OR FOLLOW-UP WITH THE ORDERING PHYSICIAN. HE AND HIS WIFE SOUGHT GENETIC COUNSELING TO OBTAIN MORE INFO AND WERE SEEN BY A CANCER GENETIC COUNSELOR. THEY WERE ANGRY, FELT THAT THEY HAD BEEN PRESSURED INTO PURSUING TESTING BY THE GASTROENTEROLOGIST, AND HAD LIMITED INFO AND NUMEROUS QUESTIONS ABOUT THE IMPLICATIONS OF THESE RESULTS FOR THE PT, AND THEIR CHILDREN. AS A RESULT OF HIS TESTING EXPERIENCE, THE PT INDICATED THAT HE BECAME DEPRESSED AND ANXIOUS AND HE STATES THAT HE REGRETS HAVING GENETIC TESTING.