Statistics of Cell Free DNA Screening

24 August 2016

Tracy Prosen, MD teaches you how to use statistics applied to screening and diagnostic tests in cell free DNA screenings, how to apply clinical data in real life scenarios, the role of microdeletion testing and how to avoid data that can be misleading or misperceived. Section 1 (00:43) Statistics of screening a. Screening and diagnostic tests b. Definitions of test performance i. Screen positives and false positives ii. Biological causes of false positives iii. Sensitivity and specificity iv. Screening for Down syndrome v. Positive and negative predictive values c. Summary and Knowledge check Section 2 (10:45) Clinical application: Aneuploidies a. Considering abnormal results i. Determining if a test is appropriate ii. Post-test counseling iii. Unusual circumstances b. Knowledge check Section 3 (19:19) Clinical application: Microdeletions a. Considering abnormal results b. Knowledge check Section 4 (22:36) Beware of misleading data a. Calculating PPV in a high risk population b. Interpretation of results reported as risk figures c. Test accuracy does not equal PPV d. Impact of test failures on test performance e. Impact of etiology of disease on test performance f. Summary and Knowledge check A global leader in DNA sequencing and array-based solutions, Illumina is dedicated to improving human health by unlocking the power of the genome. Serving customers in the research, clinical, and applied markets, Illumina technology is responsible for generating more than 90% of the world’s sequencing data. * Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, agriculture, microbiology, forensic science and beyond. *Data calculations on file. Illumina, Inc., 2015.

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