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Conditional Probability and Medical Tests

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Conditional Probability:

Screening and Diagnostic


Testing
Types of Medical Tests
• Screening tests are used to find people early in their disease
progression
• Used on asymptomatic patients
• Diagnostic tests are used to confirm the presence or absence of
disease
• Used on symptomatic patients and/or patients who tested positive on
screening tests
Evaluating Medical Tests
• No medical test is perfect
• We evaluate the accuracy of medical tests by comparing it to a gold
standard
Evaluating Medical Tests

Disease Present Disease Absent


Test + True Positive False Positive
Test - False Negative True Negative

• True Positive: The patient has the disease and the test is positive
• False Positive: The patient does not have the disease but the test is positive.
• True Negative: The patient does not have the disease and and the test is negative
• False Negative: the patient has the disease but the test is negative
Example

Disease Present Disease Absent


Test + 312 6,976
Test - 39 92,673

• This table shows the results of a study evaluating a new diagnostic


test for some disease.
• How should we measure the accuracy of this test?
• In other words, how can we tell if this is a good test to use in clinical
practice?
Evaluating Medical Tests
• Sensitivity: the probability an individual tests positive given they have
the disease.
• Sensitivity = P(Test + | Disease +)
• Refers to the ability of a test to correctly identify those patients with the
disease
• Specificity: the probability an individual tests negative given they do
not have the disease.
• Specificity = P(Test - | Disease -)
• Refers to the ability of a test to correctly identify those patients without the
disease
Evaluating Medical Tests

• Accuracy: The proportion of all tests that are correct.


• Positive Predictive Value (PPV): the probability a patient has the
disease given they test positive
• PPV = P(Disease + | Test +)
• How likely is it the patient has the disease given they test positive?
• Negative Predictive Value (NPV): the probability a patient does not
have the disease given they test negative
• NPV = P(Disease - | Test -)
• How likely is it the patient does not have the disease given they test negative?
Evaluating Medical Tests
• False Negative Fraction (FNF) = P(Test - | Disease +)
• FNF = 1 – P(Test + | Disease +) = 1 - Sensitivity
• False Positive Fraction (FPF) = P(Test + | Disease -)
• FPF = 1 – P(Test - | Disease -) = 1 – Specificity
• Likelihood Ratio+ (LR+) is defined as how much more likely it is that a
patient who tests positive has the disease compared to one who
doesn’t have the disease
Summary of statistics that can be used to
evaluate medical tests
• Sensitivity = P(Test + | Disease +)
• Specificity = P(Test - | Disease -)
• Positive Predictive Value (PPV) = P(Disease + | Test +)
• Negative Predictive Value (NPV) = P(Disease - | Test -)
• Accuracy=
• Likelihood Ratio+
Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

This example considers mammography screening for breast cancer. In Canada around 2020, the prevalence of
breast cancer for women over 40 was 0.35%

How sensitive is the test?

Introductory Statistics for the Life and Biomedical Sciences by Julie Vu & David Harrington
Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

How specific is the test?


Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

What is the chance the screening test fails to detect a case of cancer? That is what is the probability of a false
negative (FNF)?

Alternatively,
Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

What is the chance the screening detecting a case of cancer when it is not present? That is what is the probability
of a false positive (FPF)?

Alternatively,
Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

Is this a good screening test?


• Sensitivity=88.9%
• Specificity=93%
• Chance of false negative=11%
• Chance of false positive=7%
Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

If a patient tests positive, what is the chance they have cancer (PPV)?
PPV and NPV depend on disease prevalence

Banoo, S., Bell, D., Bossuyt, P., Herring, A., Mabey, D., Poole, F., ... & Ramsay, A. (2007). Evaluation of diagnostic tests for infectious
diseases: general principles. Nature Reviews Microbiology, 5(11), S21-S31.
PPV and NPV depend on disease prevalence
Remember:

Using Bayes’ Theorem, we can rewrite PPV as:


Overall accuracy also depends on prevalence
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

What is the overall accuracy of the test?


Example
Disease Present Disease Absent
Test + 312 6,976
Test - 39 92,673

Is this a good screening test?


• Sensitivity=88.9%
• Specificity=93%
• Chance of false negative=11%
• Chance of false positive=7%
• PPV=4%
• Prevalence = 351/99649=0.35%

This is a good screening test. Sensitivity and specificity are reasonably high. PPV is low because breast cancer is
very rare.
Key Points
• Ideally, we want specificity and sensitivity to be as close to 100% as
possible.
• In practice though, there is a trade-off. Increasing the sensitivity of a
test often decreases the specificity.
• Sensitivity and specificity are intrinsic to the test. They do not depend
on the population being tested.
• Positive predictive value, negative predictive value, and overall
accuracy are not intrinsic to the test. They depend on disease
prevalence in the population being tested.

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