Description of Event or Problem · 1
A FEMALE PT WHO HAD BEEN RECENTLY DIAGNOSED WITH BREAST CANCER. HER PATERNAL FAMILY HISTORY INCLUDED BREAST, OVARIAN AND PROSTATE CANCERS. HER ONCOLOGIST ORDERED GENETIC TESTING AS PART OF HER OVERALL WORK-UP, CALLED HER WITH HER INITIAL RESULTS WHICH CAME BACK NEGATIVE AND TOLD HER THAT HER CANCER WAS NOT HEREDITARY. A FEW WEEKS LATER, THE ONCOLOGIST REC'D HER BART ANALYSIS - LARGE REARRANGEMENT TESTING -RESULTS IN THE MAIL, SHOWING THAT THE PT DID, INDEED, CARRY A BRCA2 MUTATION. THE ONCOLOGIST CALLED THE GENETIC COUNSELOR, CONFUSED ABOUT WHY THE PT WHO TESTED NEGATIVE HAD NOW BEEN FOUND TO CARRY A MUTATION. THE ONCOLOGIST RE-CONTACTED THE PT WHO REPORTS THAT SHE WAS DEVASTATED TO LEARN THAT SHE CARRIED A MUTATION AFTER BEING TOLD THAT HER TEST RESULTS WERE NORMAL. WHEN SHE WAS SEEN FOR GENETIC COUNSELING, SHE WAS COUNSELED THAT EVEN IF NO MUTATION HAD BEEN FOUND, THE INTERPRETATION THAT THE CANCERS IN HER FAMILY WERE NOT HEREDITARY WAS INACCURATE. IN THAT CASE, THE PT SHOULD HAVE BEEN CONSIDERED, UNINFORMATIVE, THE CANCERS IN HER FAMILY WOULD STILL BE CONSIDERED HEREDITARY AND SHE WOULD HAVE BEEN OFFERED SURVEILLANCE AND RISK REDUCTION OPTIONS SIMILAR TO THAT OF BRCA CARRIERS.