Description of Event or Problem · 0
THIS PATIENT HAS A STRONG FAMILY HISTORY OF BREAST CANCER. IN 2018 SHE SOUGHT OUT A 23ANDME TEST AS THEY UNDERSTOOD THAT THIS TEST ANALYZED THE BRCA1 AND BRCA2 GENES AND SHE WAS CONCERNED ABOUT HER RISK FOR HEREDITARY BREAST CANCER. THIS TESTING RETURNED STATING THAT SHE HAD NO VARIANTS OF CONCERN. THEY WERE REASSURED BY THIS RESULT. IN (B)(6) OF 2024 AT 40 YEARS OF AGE, THE PATIENT WAS DIAGNOSED WITH STAGE II INVASIVE DUCTAL CARCINOMA. CLINICAL GENETIC TESTING WAS RECOMMENDED BY HER CANCER CARE TEAM AND A PATHOGENIC VARIANT IN THE BRCA1 GENE WAS IDENTIFIED. THIS VARIANT WOULD NOT HAVE BEEN DETECTED BY ANY OF 23ANDME'S CURRENT VERSIONS OF TESTING. THE PATIENT WAS SURPRISED AND UPSET TO LEARN OF THE BRCA1 MUTATION. IT WAS THEIR UNDERSTANDING THAT THEY HAD ANALYSIS OF THE BRCA1 AND BRCA2 GENES THROUGH 23ANDME AND THEY UNDERSTOOD THE RESULTS FROM THE 23ANDME RESULTS TO BE NEGATIVE/NORMAL. THE PATIENT COMMENTED, "THE 23ANDME TEST LED ME TO BELIEVE THAT I WAS SAFE, AND THAT I DID NOT HAVE ANY GENETIC MARKERS FOR CANCER IN THE BRCA1 OR BRCA2 GENES "... " THE COMPANY ADVERTISES ITSELF AS A PREVENTIVE HEALTH MEASURE, BUT IT ISN'T ONE. IT REALLY ISN'T ".... " THEY TELL YOU IN THE COMMERCIAL THAT IT CAN DETECT LIFESAVING INFORMATION ABOUT BRCA1 AND BRCA2, BUT THAT WAS NOT THE CASE FOR ME. HAD I UNDERSTOOD THAT THE 23ANDME TEST WAS SO LIMITED, I WOULD HAVE SOUGHT OUT TESTING THROUGH A GENETIC COUNSELOR. IF I HAD KNOWN BACK WHEN I TOOK THIS TEST THAT I HAD A BRCA1 MUTATION, I COULD HAVE TAKEN STEPS TO PREVENT CANCER, OR TO DETECT IT BEFORE IT WAS AT A STAGE WHEN I WOULD NEED CHEMOTHERAPY".