Disease screening and

Diagnostic tests accuracy

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Levels of prevention
 Iceberg Phenomenon
• The disease progress from sub-clinical stages
to overt or apparent disease
• The hidden mass of unrecognised disease in
the community (undiagnosed cases)
corresponds to the submerged portion of the
iceberg
• What physicians see in their practices
(apparent and overt cases) corresponds to the
floating tip
• Detection of this mass is a challenge to
preventive medicine
 Disease screening
A process of identifying apparently healthy people who may be at
increased risk of a disease.

They can then be offered further diagnostic tests and appropriate

treatment to reduce the risk of the disease or its related complications.

Early diagnosis and treatment ensure better outcome compared with

usual symptomatic (late) diagnosis and treatment

Screening extends to screening of risk factors (Elevated cholesterol level as

a risk for coronary heart disease)
What is Screening ?
Logic of screening
Apparently well population

Screening test

Positive results:
Negative results Diagnostic test

Disease No disease Disease No disease

(False negative) (True negative) (True positive) (False positive)
Criteria for the disease suitable for screening 1968
 Criteria for the disease suitable for screening 1968
Criteria related to the
disease
1. The disease is an important
public health problem
2. Availbility of acceptable
treatment for patients
3. Well known natural history of
the disease
4. Recognizable latent period of
the disease(preclinical phase)
Criteria related to the test
1. Availability of a suitable test
2. The test is acceptable
3. The cost of the screening
program is balanced in relation
to the total expenditure
Criteria related to the
system
1. Facilities to diagnose (confirm )
and treat patients
2. Agreed policy on whom to treat
as patients
3. Case finding is a continous
process
Examples for screening programs
• Neonatal screening for hypothyrodism

• Screning for hepatitis C

• Screening for breast cancer and cervical cancer

• Screening of diabetic patients for eye problems

• Hearing and visual defects in school children

 • Inexpensive
• Easy to administer
Characteristics • Minimal discomfort
• Reliable (consistent)
of a Good • Valid (distinguishes diseased & non-
Screening Test diseased people)
 Screening test validity
the extent to which the test distinguishes between persons with
and without the disease
Sensitivity Specificity
Ability to avoid false negatives; Ability to avoid false positive;
accuracy in including all who accuracy in not including non
have the problem affected persons
False negative- False positive -
Subjects have problem, subjects doesn't have the
incorrectly identified as not problem, incorrectly identified
having the problem as having the problem
 Outcomes of a Screening Test
True Disease Status

Screening Positive Negative Total

Test

Positive True Positives False Positives TP+FP

(TP) (FP)

Negative False Negatives True Negatives FN+TN

(FN) (TN)

Total TP+FN FP+TN TP+FP+FN+TN

• Sensitivity and specificity are characteristics of the test

• Sensitivity is the proportion of those who have the disease who are
correctly identified by the test as positive

• Specificity is the proportion of those who do not have the disease

who are correctly identified by the test as negative

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Calculations of sensitivity and specificity

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• Ideally tests should have both sensitivity and specificity close to 1.0
(or 100% if they are presented as percentages), although it is often
difficult in reality to have both high sensitivity and specificity.

• Which means that we will always have some false positives (type I
error) and some false negatives (type II error)

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• SpPin: A highly Specific test with a positive result tends to rule in the
diagnosis of the disease.

• SnNout: A highly Sensitive test with a negative result tends to rule out
the diagnosis of the disease.

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• Positive predictive value=
probability of disease
among patients with a
positive test.

• Negative predictive value=

probability of no test
among patient with a
negative test.

Actually having the Free from the total

outcome outcome
Positive 80 100 180
Negative 20 800 820
Total 100 900 1000
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• Positive predictive value (PPV) = a/(a+b)
(proportion of test positives who are true positive)
• Negative predictive value (NPV) = d/(c+d)
(proportion of test negatives who are true negative)
• Prevalence of disease = (a+c)/n
(proportion of all individuals who have the disease, i.e. are positive)
• Diagnostic accuracy = (a+d)/n
(proportion of study subjects among whom the test gives correct diagnosis)

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• Sensitivity and specificity are characteristics of the test but they do
not help a clinician to interpret the results of an individual test.
• Positive and negative predictive values are useful in a clinical setting
as they give the probabilities that an individual is truly positive given
that they tested positive, or truly negative given that they tested
negative.

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• The consequences of a false positive or false negative depends on the
setting. For example:
• A false negative test for a sexually transmitted disease could falsely
reassure and lead to further transmission
• In a pregnant woman, a false positive test for congenital anomaly may
result in an unnecessary abortion

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• If the confirmatory test is expensive or invasive or false diagnosis will
be associated with much sham and stigma:
−Minimize false positives or
−Use a cut-point with high specificity

• If the penalty for missing a case is high (e.g., the disease is fatal and
treatment exists, or disease easily spreads):
−Minimize false negatives or
−Use a cut-point with high sensitivity
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Note
• Sensitivity and specificity are not related to disease prevalence
• PPV is directly related to disease prevalence
• NPV is inversely related to disease prevalence

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Effect of prevalence
• If the sensitivity and specificity for a test are known but we wish to
use the test on a different population from the one it was developed
in, the PPV and NPV can be calculated using the following standard
formula

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 Receiver Operating Characteristic (ROC)

• ROC Curve allows comparison of different tests for the same

condition without (before) specifying a cut-off point.

• The test with the largest AUC (Area under the curve) is the best.
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Also ….
• The receiver operating characteristic (ROC) curve to compare the
sensitivity and specificity for all possible cut-offs.

• This allows the most appropriate cut-off to be chosen for the

particular context.

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