Genomic Data Heterogeneity across Molecular Diagnostic Laboratory – Published in The Journal of Molecular Diagnostics

Aug 14, 2023 | News

“𝗘𝘃𝗲𝗻 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗲𝘀 𝘄𝗶𝘁𝗵 𝗖𝗔𝗣 𝗮𝗰𝗰𝗿𝗲𝗱𝗶𝘁𝗮𝘁𝗶𝗼𝗻 𝗱𝗶𝗱 𝗻𝗼𝘁 𝗮𝗹𝘄𝗮𝘆𝘀 𝗳𝗼𝗹𝗹𝗼𝘄 𝗖𝗔𝗣 𝗿𝗲𝗾𝘂𝗶𝗿𝗲𝗺𝗲𝗻𝘁𝘀.”

“𝗧𝗵𝗶𝘀 𝗽𝗶𝗹𝗼𝘁 𝘀𝘁𝘂𝗱𝘆 𝗱𝗲𝗺𝗼𝗻𝘀𝘁𝗿𝗮𝘁𝗲𝗱 𝘁𝗵𝗮𝘁 𝗹𝗶𝗺𝗶𝘁𝗮𝘁𝗶𝗼𝗻𝘀 𝗶𝗻 𝘁𝗵𝗲 𝗮𝗰𝗰𝘂𝗿𝗮𝗰𝘆, 𝘁𝗿𝗮𝗻𝘀𝗽𝗮𝗿𝗲𝗻𝗰𝘆, 𝗮𝗻𝗱 𝗰𝗼𝗻𝘀𝗶𝘀𝘁𝗲𝗻𝗰𝘆 𝗼𝗳 𝗴𝗲𝗻𝗲𝘁𝗶𝗰 𝗮𝗻𝗱 𝗴𝗲𝗻𝗼𝗺𝗶𝗰 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝘆 𝗿𝗲𝗽𝗼𝗿𝘁𝘀 𝗺𝗮𝗸𝗲 𝘁𝗵𝗲 𝘀𝘁𝗮𝗻𝗱𝗮𝗿𝗱𝗶𝘇𝗮𝘁𝗶𝗼𝗻, 𝗰𝗼𝗹𝗹𝗮𝘁𝗶𝗼𝗻, 𝗮𝗻𝗮𝗹𝘆𝘀𝗶𝘀, 𝗮𝗻𝗱 𝗶𝗻𝘁𝗲𝗿𝗽𝗿𝗲𝘁𝗮𝘁𝗶𝗼𝗻 𝗼𝗳 𝗵𝗶𝗴𝗵-𝗾𝘂𝗮𝗹𝗶𝘁𝘆 𝗱𝗮𝘁𝗮 𝗮𝗰𝗿𝗼𝘀𝘀 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗲𝘀 𝗮𝗻𝗱 𝗽𝗿𝗼𝘃𝗶𝗱𝗲𝗿𝘀 𝗶𝗺𝗽𝗼𝘀𝘀𝗶𝗯𝗹𝗲.”

“𝗧𝗵𝗲 𝗹𝗮𝗰𝗸 𝗼𝗳 𝘀𝘂𝗳𝗳𝗶𝗰𝗶𝗲𝗻𝘁 𝗱𝗲𝘁𝗮𝗶𝗹 𝘁𝗼 𝗶𝗱𝗲𝗻𝘁𝗶𝗳𝘆 𝘁𝗵𝗲 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝘆 𝗿𝘂𝗻𝗻𝗶𝗻𝗴 𝘁𝗵𝗲 𝗮𝘀𝘀𝗮𝘆 𝗶𝗻 𝘀𝗼𝗺𝗲 𝗰𝗮𝘀𝗲𝘀, 𝘁𝗵𝗲 𝗵𝗶𝗴𝗵 𝗻𝘂𝗺𝗯𝗲𝗿 𝗼𝗳 𝗽𝗮𝘀𝘀-𝘁𝗵𝗿𝗼𝘂𝗴𝗵 𝗿𝗲𝗽𝗼𝗿𝘁𝘀, 𝗮𝗻𝗱 𝘁𝗵𝗲 𝘂𝘀𝗲 𝗼𝗳 𝗻𝗼𝗻-𝘀𝘁𝗮𝗻𝗱𝗮𝗿𝗱𝗶𝘇𝗲𝗱 𝗿𝗲𝗽𝗼𝗿𝘁𝗶𝗻𝗴 𝗳𝗼𝗿𝗺𝗮𝘁𝘀 𝗮𝗹𝗹 𝗶𝗻𝗰𝗿𝗲𝗮𝘀𝗲 𝘁𝗵𝗲 𝗽𝗼𝘁𝗲𝗻𝘁𝗶𝗮𝗹 𝗳𝗼𝗿 𝗿𝗲𝗽𝗼𝗿𝘁𝗶𝗻𝗴 𝗲𝗿𝗿𝗼𝗿𝘀 𝗮𝗻𝗱 𝗱𝗮𝘁𝗮 𝗺𝗶𝘀𝗶𝗻𝘁𝗲𝗿𝗽𝗿𝗲𝘁𝗮𝘁𝗶𝗼𝗻.”

…and there’s much more in the publication (& even more that got cut).

𝗜𝘀𝗻’𝘁 𝗶𝘁 𝗮𝗯𝗼𝘂𝘁 𝘁𝗶𝗺𝗲 𝘁𝗼 𝗘𝗟𝗘𝗩𝗔𝗧𝗘𝗚𝗘𝗡𝗘𝗧𝗜𝗖𝗦? 𝗣𝗮𝘁𝗶𝗲𝗻𝘁 𝗹𝗶𝘃𝗲𝘀 𝗮𝗿𝗲 𝗮𝘁 𝘀𝘁𝗮𝗸𝗲. https://lnkd.in/eGcd_sqV.

𝘽𝙖𝙘𝙠𝙜𝙧𝙤𝙪𝙣𝙙 𝙤𝙛 𝙩𝙝𝙚 𝙖𝙩𝙩𝙖𝙘𝙝𝙚𝙙 𝙥𝙪𝙗𝙡𝙞𝙘𝙖𝙩𝙞𝙤𝙣: The independent & nonprofit Center for Genomic Interpretation (CGI) is staffed with Clinical Genetics & Genomics industry veterans who are passionate about raising the accuracy & quality bar. CGI was contracted several years ago by Celgene/Bristol Myers Squibb to collate anonymized genomics reports for a patient registry. The clinical reports were issued by CLIA labs, with almost all of them having CAP Accreditation. THE VERY FIRST clinical laboratory report the CGI team attempted to extract & standardize genomics data from was issued by a prestigious lab, but it made absolutely no biological sense. The reported clinical genomic finding could not exist! And that was just the beginning of a complex project to make sense of the patients’ clinical genomic reports from labs across the USA. CGI employees have seen a lot of shoddy work from clinical labs, but what we saw during this project shocked even us! When CGI presented its initial findings to the patient registry’s prestigious Scientific Advisory Board, the Board directed that the work should be published to alert clinicians to problems in the Precision Medicine / Precision Oncology industry.

This and other experiences informed CGI’s decision to create accuracy & quality assessment services that Health Insurance Payers, Pharma, Self-funded Employers, & Clinicians can use to figure out which clinical genetic/genomic tests are accurate. Learn more about CGI’s ELEVATEGENETICS assessment services @ https://lnkd.in/eGcd_sqV.

Publication: https://lnkd.in/gg2uEwe4

https://lnkd.in/e-mHEhuH

Contact us at CGI to learn more. truth-in-genomics@genomicinterpretation.org or ph +1 (801) 810-4097.

The post Genomic Data Heterogeneity across Molecular Diagnostic Laboratory – Published in The Journal of Molecular Diagnostics appeared first on Center for Genomic Interpretation.

“𝗘𝘃𝗲𝗻 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗲𝘀 𝘄𝗶𝘁𝗵 𝗖𝗔𝗣 𝗮𝗰𝗰𝗿𝗲𝗱𝗶𝘁𝗮𝘁𝗶𝗼𝗻 𝗱𝗶𝗱 𝗻𝗼𝘁 𝗮𝗹𝘄𝗮𝘆𝘀 𝗳𝗼𝗹𝗹𝗼𝘄 𝗖𝗔𝗣 𝗿𝗲𝗾𝘂𝗶𝗿𝗲𝗺𝗲𝗻𝘁𝘀.” “𝗧𝗵𝗶𝘀 𝗽𝗶𝗹𝗼𝘁 𝘀𝘁𝘂𝗱𝘆 𝗱𝗲𝗺𝗼𝗻𝘀𝘁𝗿𝗮𝘁𝗲𝗱 𝘁𝗵𝗮𝘁 𝗹𝗶𝗺𝗶𝘁𝗮𝘁𝗶𝗼𝗻𝘀 𝗶𝗻 𝘁𝗵𝗲 𝗮𝗰𝗰𝘂𝗿𝗮𝗰𝘆, 𝘁𝗿𝗮𝗻𝘀𝗽𝗮𝗿𝗲𝗻𝗰𝘆, 𝗮𝗻𝗱 𝗰𝗼𝗻𝘀𝗶𝘀𝘁𝗲𝗻𝗰𝘆 𝗼𝗳 𝗴𝗲𝗻𝗲𝘁𝗶𝗰 𝗮𝗻𝗱 𝗴𝗲𝗻𝗼𝗺𝗶𝗰 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝘆 𝗿𝗲𝗽𝗼𝗿𝘁𝘀 𝗺𝗮𝗸𝗲 𝘁𝗵𝗲 𝘀𝘁𝗮𝗻𝗱𝗮𝗿𝗱𝗶𝘇𝗮𝘁𝗶𝗼𝗻, 𝗰𝗼𝗹𝗹𝗮𝘁𝗶𝗼𝗻, 𝗮𝗻𝗮𝗹𝘆𝘀𝗶𝘀, 𝗮𝗻𝗱 𝗶𝗻𝘁𝗲𝗿𝗽𝗿𝗲𝘁𝗮𝘁𝗶𝗼𝗻 𝗼𝗳 𝗵𝗶𝗴𝗵-𝗾𝘂𝗮𝗹𝗶𝘁𝘆 𝗱𝗮𝘁𝗮 𝗮𝗰𝗿𝗼𝘀𝘀 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝗶𝗲𝘀 𝗮𝗻𝗱 𝗽𝗿𝗼𝘃𝗶𝗱𝗲𝗿𝘀 𝗶𝗺𝗽𝗼𝘀𝘀𝗶𝗯𝗹𝗲.” “𝗧𝗵𝗲 𝗹𝗮𝗰𝗸 𝗼𝗳 𝘀𝘂𝗳𝗳𝗶𝗰𝗶𝗲𝗻𝘁 𝗱𝗲𝘁𝗮𝗶𝗹 𝘁𝗼 𝗶𝗱𝗲𝗻𝘁𝗶𝗳𝘆 𝘁𝗵𝗲 𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗼𝗿𝘆 𝗿𝘂𝗻𝗻𝗶𝗻𝗴 𝘁𝗵𝗲
The post Genomic Data Heterogeneity across Molecular Diagnostic Laboratory – Published in The Journal of Molecular Diagnostics appeared first on Center for Genomic Interpretation.