MAYO CLINIC GENEGUIDE HELIX

Description of Event or Problem

I THINK THE LINK WILL BE REMOVED FROM MAUDE; HOWEVER, IN TERMS OF PROVIDING INFO TO THE FDA, THERE IS ADD'L INFO AVAILABLE HERE: (B)(6). I ALSO UPLOADED DATA TO MY PERSONAL GENOME PROJECT PAGE ON (B)(6) 2019: (B)(6). I THINK MY CONCERN IS TECHNICALLY NOT AN ERROR, BUT I THINK IT IS IMPORTANT FOR CONSUMERS: I AM A CYSTIC FIBROSIS CARRIER (AS DEFINE BY CLINVAR, THE CTFR2 DATABASE, ETC.) BUT MY VARIANT WAS NOT ABOVE THOSE LISTED AS BEING CHECKED IN MY REPORT. HOWEVER, IF YOU CHECKED MY RAW DATA (WHICH I HAD TO PAY EXTRA TO RECEIVE, AND I ONLY RECEIVED A GVCF FILE, RATHER THAN THE MORE TYPICAL FASTQ+BAM+VCF COMBINATION THAT I WOULD PREFER), THEN YOU COULD SEE THE VARIANT CALL FOR MY CYSTIC FIBROSIS VARIANT. SO, IT IS POSSIBLE TO DETERMINE THIS FROM THE DATA GENERATED, EVEN THOUGH MY REPORT SAID I WAS NOT A CYSTIC FIBROSIS CARRIER (WHICH I THINK MAY BE CONFUSING FOR SOME CUSTOMERS, AND THAT IS WHY I SUBMITTED A REPORT). THE COMPANY SPECIFICALLY ADVERTISES CYSTIC FIBROSIS TESTING. FDA SAFETY REPORT ID# (B)(4).