Goals for Screening Genetic Disorders
Population Screening
Diagnostic Screening
Diagnostic— Expensive and Comprehensive.
Statistics give us some degree of confidence for diagnostic testing.
Elements of a Good Test Design
Concept of False Positives via Gaussian Curve
False Positive and False Negative
Specificity vs. Sensitivity
Positive Predictive Value vs. Negative Predictive Value
Genetic Diseases and Modes of Inheritence
5 Key Things to Know about any Test
Heterozygote Screening
Presymptomatic Diagnoses
Public Guidelines for Heterozygote Screening
Direct Genetic Screening
Exome Sequencing
Prenatal Diagnosis of Genetic Disorders
NIPT pt. I
NIPT Pt. II
What NIPT can Test For
NIPT and Inborn errors of Metabolism
Personalized Medicine
Personalized medicine and haplotypes
Key to Precision Medicine
Summary I
Summary II
Summary III
Summary IV