Description of Event or Problem · 0
I AM WRITING TO FORMALLY EXPRESS SERIOUS CONCERNS REGARDING THE PRACTICES OF SEQUENCING.COM, A DIRECT TO CONSUMER (OTC) GENETIC TESTING COMPANY THAT OFFERS AL-GENERATED HEALTH REPORTS BASED ON WHOLE GENOME SEQUENCING. SEQUENCING.COM MARKETS ITSELF AS A PLATFORM THAT EMPOWERS INDIVIDUALS TO "OUTSMART YOUR GENES" BY PROVIDING PERSONALIZED INSIGHTS. WHILE THE COMPANY HOLDS CLIA CERTIFICATION AND CAP ACCREDITATION FOR ITS LABORATORY SERVICES, IT'S CONSUMER-FACING REPORTS ARE GENERATED BY A BETA-STATE ARTIFICIAL INTELLIGENCE SYSTEM, AND THEY DO NOT HAVE A VARIANT REVIEW PIPELINE OR OVERSIGHT BY GENETIC PRACTITIONERS. THIS CASE INVOLVES A PATIENT WHO REACHED OUT TO OUR CLINICAL GENETICS PROGRAM AFTER RECEIVING A SEQUENCING.COM "BRAIN HEALTH" REPORT DATED (B)(6) 2025. THE REPORT, LABELED AS A BETA FEATURE AND POWERED BY SEQUENCING AL, CLAIMED THE PATIENT HAD MULTIPLE SERIOUS NEUROLOGICAL CONDITIONS, INCLUDING ALZHEIMER'S DISEASE, FOUR DISTINCT TYPES OF CHARCOT-MARIE-TOOTH DISEASE, ATAXIA, AND A NEURODEVELOPMENTAL DISORDER. THESE ASSERTATIONS WERE MADE SOLELY BASED ON RAW GENOMIC DATA, WITHOUT THE RIGOROUS VARIANT INTERPRETATION STANDARDS REQUIRED FOR CLINICAL DIAGNOSTICS. MOST TROUBLING IS THAT THE REPORT DID NOT MERELY SUGGEST GENETIC RISK- IT CLAIMED DETECTION OF DISEASE AND RECOMMENDED SPECIFIC MEDICAL MANAGEMENT STRATEGIES, INCLUDING MEDICATIONS FOR ATAXIA, PHYSICAL AND OCCUPATIONAL THERAPY FOR CHARCOT-MARIE-TOOTH DISEASE, AND NEUROIMAGING (MRI OR CT SCANS) TO ASSESS FOR NEUROLOGICAL CHANGES. THESE RECOMMENDATIONS WERE MADE OUTSIDE OF A CLINICAL CONTEXT, WITHOUT PHYSICIAN OVERSIGHT, AND BASED ON MEDIUM-CONFIDENCE VARIANT ASSOCIATIONS. THE PATIENT, UNDERSTANDABLY DISTRESSED, SOUGHT URGENT MEDICAL EVALUATION BASED ON THESE FINDINGS, WHICH WERE NOT CLINICAL VALIDATED AND LACKED THE INTERPRETIVE FRAMEWORK NECESSARY TO SUPPORT SUCH CONCLUSION. WITHOUT GENETIC COUNSELOR INVOLVEMENT, IT IS VERY POSSIBLE THAT THIS PATIENT COULD HAVE HAD UNNECESSARY OR HARMFUL MEDICAL INTERVENTIONS URGE THE FDA TO INVESTIGATE SEQUENCING.COM. IT IS UNACCEPTABLE FOR A DIRECT-TO-CONSUMER COMPANY TO PROVIDE MEDICAL RECOMMENDATIONS WITHOUT A VALIDATED VARIANT INTERPRETATION PIPELINE AND FDA OVERSIGHT.