Clinical data collection, quality control, and variant interpretation
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Presented in Upgraded Life Festival 31.5.2016 by Tommi Lehtonen, Blueprint Genetics. http://www.upgradedlifefestival.com/
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Clinical data collection, quality control, and variant interpretation
- 1. Tommi Lehtonen, CEO! Gathering ! DATA in the clinical ! environment!
- 2. clinical vs. research environment! collection of variant data! HIPAA compliance Rigorous quality control Conclusions based on single observation Need to collect variant data Private and public efforts CLINVAR
- 3. HIPAA! compliance ! = ! Privacy + Security rules!
- 4. Quality management system ensures quality control! QMS!
- 5. ! ü validated test procedures! ü sample fingerprinting ! ü gender and ancestry marker ! ü real-time assesments! ! QCin the lab!
- 6. Validation of test assays include both internal as external validation! ! ! accuracy! sensitivity! specificity! reportable range detection limit reproducibility of test! ! gold reference standard samples used for internal validation! ! undisclosed ! sample/data provided by the external test authority! ISO I CLIA I CAP I EMQN
- 7. Quality of data! Systematism! Sharing! Pathogenic! Likely pathogenic! VUS! Likely benign! Benign! In silico ! predictions ! = ! No insight! Why? How? And?
- 8. ü improved classification of variants! ü improved consequence assessment! ü makes precision medicine feasible! ü provides risk estimates!
- 10. Orders My Orders Community Science Support 21 Ordered tests Tests shared with me Find an orderAdvanced search Recommended connection Dr. O’Mara Cardiovascular Ignore Connect Dr. Andersson Cardiovascular vessel atherosclerosis vessel atherosclerosis vessel atherosclerosis Dr. Facemire Cardiovascular Ignore Connect Ignore Connect You might also interested in reading… Root causes for delayed hospital discharge in ... Date Order Patient DOB Test Test status Mail Options Feedback Help 19.10.2015 15 days ago 4275 Nicole Newman 3414 EDMD Panel NoWaiting for sample Updated Report Print 11.10.2015 19 days ago 11.08.2015 52 days ago 3212 3216 Andy Wellknown Andy Wellknown 6521 6523 Noonan Panel CPVT Panel Yes Yes Sample received Sample received Report Report Print Print 05.10.2015 25 days ago 6323 Carmen White 5456 NS Panel No Waiting for result 18days left 18days left Report Print 02.09.2015 45 days ago 5454 Chris Hallman 8631 GM1 Panel NoAnalysed successfully Updated Report Print Connecting Clinicians !
- 11. thank you
- 12. Tukholmankatu 8, Biomedicum 2U! 00290 Helsinki! ! 953 Indiana Street, QB3@953! CA 94107 San Francisco! Tommi Lehtonen! CEO! ! +358 44 7700 411 / +1 617 417 4772! tommi.lehtonen@blueprintgenetics.com!