HIGH THROUGHPUT DNA SEQUENCE ANALYZER

Description of Event or Problem

ADDITIONAL INFORMATION RECEIVED ON 03/11/2026 FOR REPORT MW5183582 TO UPDATE MANUFACTURER.

Description of Event or Problem

I JUST WANT TO REPORT THAT I HAD A PATIENT RECENTLY BRING IN A GENETIC REPORT FROM SEQUENCING.COM. SEQUENCING IS A LAB THAT HAS BEEN REFERENCED SEVERAL TIMES ON THE NSGC LIST SERVICE WHERE PEOPLE SAY THIS IS A FRAUDULENT LAB. MANY PEOPLE HAVE HAD THE EXPERIENCE OF A PATIENT COMING WITH THE TEST REPORT, THEY SEND TESTING TO A MEDICAL GRADE LAB LIKE MYRIAD, AND THE RESULTS ARE COMPLETELY DIFFERENT. THE SEQUENCING RESULTS ARE FALSE POSITIVES. THE REPORT IS VERY CONFUSING AND IT LOOKS LIKE WHAT IS DONE AT 23 AND ME WHICH IS ANALYZING SNPS AND NOT FULL GENES. ON THE (B)(6) COMMUNITY OF PRACTICE LIST SERVE AND THEY HAVE SAID SIMILAR THINGS ABOUT SEQUENCING. PATIENTS TESTED POSITIVE FOR VARIANTS AT SEQUENCING AND THEN TESTED NEGATIVE AT A MEDICAL GRADE LAB. ONE DOCTOR (FROM (B)(6)) SAID "THE WEBSITE HAS NO INFORMATION ABOUT ACCREDITATION OR ACCURACY OF THEIR RESULTS AND IS NOT A CLINICAL LAB. THUS, I WOULD NOT TRUST ANY RESULTS FROM THIS LAB AND CONFIRM ALL FINDINGS WITH A TRADITIONAL CLIA-CERTIFIED GERMLINE LAB." MULTIPLE PROVIDERS SAID TO TAKE THESE RESULTS WITH A GRAIN OF SALT. SEQUENCING IS TESTING FOR SNVS AND MARKETING THIS AS GENETIC VARIANTS TO PATIENTS. FOR EXAMPLE, MYRIAD SAYS THAT FGFR2 IS NOT A GENE ON OUR PANEL, AND UPON A QUICK SEARCH AMONG THE OTHER MAJOR HEREDITARY CANCER LABS, IT IS NOT ON THEIR PANELS EITHER. THE FGFR2 GENE IS NOT ASSOCIATED WITH A SIGNIFICANT INCREASE IN CANCER RISK (AS REPORTED ON THE SEQUENCING LAB REPORT THAT I RECEIVED FROM THE PATIENT) LIKE WE MIGHT SEE WITH A BRCA1 OR CHEK2 MUTATION. WHAT IS MOST LIKELY BEING REPORTED HERE ARE SNVS (SINGLE NUCLEOTIDE VARIANTS) THAT HAVE BEEN REPORTED OR MENTIONED ON GENOME WIDE ASSOCIATION STUDIES TO MARGINALLY INCREASE BREAST CANCER RISK (FOR EXAMPLE, BY 1%). BECAUSE OF THE SMALL EFFECT SIZES FOR THESE LESS IMPACTFUL VARIANTS, THEY ARE GENERALLY NOT REPORTED OUT ON THEIR OWN AND ARE MORE SUITABLE CANDIDATES TO BE INCLUDED ON A POLYGENIC RISK SCORE. THE VARIANTS THEY ARE TESTING FOR ARE NOT FDA APPROVED. THEY'RE NOT MEANINGFULLY VALIDATED TO GIVE THOSE RESULTS BACK AT CLINICAL QUALITY / REPRODUCIBLY / ACCURATELY - WHICH MEANS THERE CAN BE ALL KINDS OF ISSUES WITH THE GENERATION OF THE SEQUENCING ITSELF OR THE BIOINFORMATICS PIPELINES USED TO CALL VARIANTS. SEQUENCING.COM SHOULD NOT BE ABLE TO CONTINUE PROVIDING "GENETIC TESTING" TO PATIENTS.