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Tommi Lehtonen, CEO!
Gathering !DATA in the clinical !environment!
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
HIPAA !compliance !
= !Privacy + Security rules!
Quality management system ensures quality control!
QMS!
!ü validated test procedures!ü sample fingerprinting !ü gender and ancestry marker !ü real-time assesments!
!
QC in the lab!
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
Quality of data!Systematism!
Sharing!
Pathogenic!Likely pathogenic!
VUS!Likely benign!
Benign!
In silico !predictions !
= !No insight!
Why? How? And?
ü improved classification of variants!ü improved consequence assessment!ü makes precision medicine feasible!ü provides risk estimates!
CLINT!(CLinical INTerpretation assistant)!
Orders
My Orders Community Science Support21
Ordered tests Tests shared with me Find an orderAdvanced search
Recommended connection
Dr. O’MaraCardiovascular
Ignore
Connect
Dr. AnderssonCardiovascular
vessel
atherosclerosis
vessel
atherosclerosis
vessel
atherosclerosis
Dr. FacemireCardiovascular
Ignore
Connect
Ignore
Connect
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Connecting Clinicians !
thank you
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 [email protected]!
