Description of Event or Problem · 1
PATIENT UNDERWENT GENETIC TESTING THROUGH GENEID LABORATORY. TEST WAS ORDERED BY PATIENT'S OB/GYN AT THE ENCOURAGEMENT OF THE COMPANY'S SALES REPRESENTATIVE, WHO HAD BEEN TARGETING THE OFFICE WITH MARKETING EFFORTS. PATIENT IS ADOPTED AND KNOWS VERY LITTLE ABOUT HER FAMILY HISTORY. GENEID COMPLETED "PREVENTEST" MULTI-GENE PANEL AND REPORTED BIALLELIC DELETIONS IN THE MSH2 GENE CHARACTERIZED THEM AS VARIANTS OF UNCERTAIN SIGNIFICANCE. FOUND NO MUTATIONS IN ANY OTHER GENES TESTED. OB/GYN REFERRED PATIENT FOR GENETIC COUNSELING TO DISCUSS MEANING OF GENETIC TEST RESULTS. PATIENT HAD TRIED TO CONTACT GENEID MULTIPLE TIMES TO GATHER MORE CLINICAL INFORMATION AND WAS PROVIDED WITH VERY POOR CUSTOMER SERVICE AND VERY LITTLE ACCURATE CLINICAL ADVISE. ONE OF OUR GENETIC COUNSELORS RECOMMENDED CONFIRMING THE GENETIC TEST RESULTS THOUGH A LAB THAT WE CONSIDER TO BE REPUTABLE, AS SEVERAL GENETIC COUNSELORS AROUND THE COUNTRY HAVE REPORTED INCORRECT RESULTS FROM GENEID. A SAMPLE WAS SENT TO INVITAE WHO COMPLETED A SIMILAR MULTI-GENE PANEL TEST AND FOUND A PATHOGENIC VARIANT IN RAD50 (A GENE TESTED BY GENEID BUR REPORTED TO BE NORMAL). INVITAE ALSO LOOKED FOR THE BIALLELIC DELETIONS IN MSH2 (REPORTED BY GENEID) BUT THEY DID NOT FIND THEM. IF THEY DID, HOWEVER, THEY WOULD'VE CLASSIFIED THEM AS BENIGN VARIANTS. THESE DISCREPANT RESULTS ARE VERY CONCERNING. GENEID APPEARS TO HAVE REPORTED VARIANTS IN THE MSH2 GENE THAT WERE NOT FOUND BY THE OTHER LAB. GENEID ALSO DID NOT DETECT A PATHOGENIC VARIANT IN THE RAD50 GENE, WHICH INVITAE DID FIND.