MYGENOME (30X WHOLE GENOME SEQUENCING)

Description of Event or Problem

I RECEIVED DEQUENCHING AS PART OF A DEAL THROUGH THE PERSONAL GENOME PROJECT (WITH DATA UPLOADED ON (B)(6) 2016). SO, THIS IS SPECIFICALLY FOR THE PGP GET-EVIDENCE REPORT, WHICH MAY NOT BE WHAT OTHER CUSTOMER RECEIVE. 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). SIMILARLY, I THINK THE LINK WILL BE REMOVED, BUT YOU CAN VIEW MY PGP PROFILE HERE: (B)(6). IF THE FDA WOULD LIKE MORE INFO, THEN I WOULD BE GLAD TO PROVIDE IT. HOWEVER, THIS IS MY CONCERN: I AM A CYSTIC FIBROSIS CARRIER (AS DEFINED BY CLINVAR, THE CTFR2 DATABASE, ETC), BUT THIS WAS NOT MENTIONED ON THE FIRST PAGE OF THE GET-EVIDENCE REPORT (WHICH ONLY LISTED VARIANTS FOR MBL2-G54D, COL4A1-Q1334H, SPG7-A510V, AND MTRR-I49M). I THINK ONE FACTOR MAY BE HOW THIS DELETION IS LISTED, SINCE I COULD FIND THE VARIANT AS "CFTR-L88SHIFT" AFTER LEARNING TO LOOK THAT ALTERNATIVE NAME UNDER THE CATEGORY OF "INSUFFICIENTLY EVALUATED VARIANTS". I WOULD ALSO LIKE TO THANK A CONTRIBUTOR TO A BIOSTARS DISCUSSION FOR POINTING OUT HOW I COULD FIND THIS VARIANT ANNOTATION (MORE SPECIFICALLY CITED IN THE BLOG POST). ALSO, TO BE FAIR, I DON'T THINK THIS PRODUCT WAS SPECIFICALLY MARKETED TO BE ABLE TO TELL YOU YOUR CYSTIC FIBROSIS STATUS (JUST FOR GENERAL RESEARCH PURPOSES). HOWEVER, I THINK MOST PEOPLE WOULD CONSIDER THIS A FALSE NEGATIVE. VERITAS GENETICS. FDA SAFETY REPORT ID# (B)(4).