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SCREENING FOR DISEASES

Presentation · June 2024

DOI: 10.13140/RG.2.2.25634.03526

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SCREENING FOR DISEASES

Dr. Alyaa Emhemmed Azzain

Community Medicine Department / Faculty of Medicine.

Misurata university
 SCREENING FOR DISEASES

In iceberg phenomenon submerged portion of ice which constitutes the major part
represent subclinical cases, carriers, undiagnosed cases, and they all are apparently
healthy individuals, this mass of unrecognized disease is responsible for the constant
prevalence of the disease in the community.
One of the priority duties, for public health physician and for all medical personnel is to
ensure an early diagnosis and treatment for them, through screening for diseases.

“Screening is the search for unrecognized disease or defect by means of rapidly applied
tests, examinations or other procedures in apparently healthy individuals.”

It is mostly applied to detect the hidden part of an “Iceberg” of diseases. It is capable of

wide application, relatively inexpensive and requires little physician time.

Aim of screening:
To sort out a group of apparently healthy individuals. Into two groups, first group has the
disease and the other group not has the disease
 Difference between Screening and diagnostic test is given below:

SCREENING TEST DIAGNOSTIC TEST

1. Done on apparently healthy. 1. Done on those with indication or sick.
2.Applied on groups or population. 2.Applied on single patient.
3. Test results are not final. 3.Diagnosis is final but can be modified
4.Based on one criteria or cut-off 4.Based on evaluation of a number of
int. symptoms, signs and lab findings.
5.Less accurate (Less Valid) 5.More accurate (More Valid)
6.Less expensive. 6. More expensive.
7.Not the basis for treatment 7. Used as a basis for treatment.
8.The initiative comes from investigator 8. The initiative comes from patient.
9.Mostly non or minimally invasive 9. Mostly invasive

Examples of some diseases, screening tests and Diagnostic Tests

Disease Screening Test Diagnostic Test
Diabetes Urine sugar & Blood sugar Oral Glucose Tolerance Test
Hypertension Measurement of Blood Pressure Measurement of Blood Pressure
Cervical cancer PAP smear Biopsy
Tuberculosis Mass Miniature Radiography (MMR) Sputum examination
HIV ELISA test Western blot test
Screening is used for diseases where there is a considerable time lag between the onset of
the disease and the usual time of disease detection. During this period there are critical
points which determine the severity of disease and the success of any treatment provided.
If disease is detected after the final critical point, then there is no benefit as the treatment
usually is not effective and there is a permanent damage had occurred already.

Lead time is the time between the detection of the disease by screening tests and the
usual time of disease detection.

A is the usual outcome of the disease.

B is the expected outcome if the disease discovered earlier than usual.

Uses of screening

1- For case detection:

It's called Prescriptive screening; People are screened for their own benefit.
Disease can be detected and treated early so prevention of complications is possible.

For example, screening of the newborn, of the pregnant mother for bacteriuria, detection
of cervical cancer, diabetes, hypertension, etc.

2. For disease control:

It is called Prospective screening. People are screened for the benefit of others and the
community, as by early diagnosis and treatment, the spread of the disease in the
community can be prevented, morbidity and mortality are reduced.
For example, Screening of the immigrants for HIV, or pulmonary tuberculosis and
syphilis, screening of blood donors.
3. For research purpose: Screening helps in studying the natural history of the disease.
For example, initial screening helps to know about the prevalence of the disease and
through subsequent screening, the incidence can be estimated. An information about risk
factors and risk groups can be obtained as well.
4. For educational purpose: Screening procedure creates awareness among the people
about the disease to be screened, thus educating the public.
Types of Screening
Mass Screening:
This is the screening of the entire population or a subgroup e.g. all children of an area for
a disease.
It is not a useful preventive measure unless it is supported by the treatment and follow-
up.
High-risk Screening:

It's called Selective or Targeted screening. In this type of screening only the groups which
are at high risk of the disease is screened. For example, as cervical cancer is more common
at women of low socioeconomic class so screening of CaCx is applied to this group of
population (i.e. Women of low socioeconomic group. examination of sex-workers for
HIV.

Multipurpose Screening:
In this type of screening two or more tests are applied at the same time to detect for than
one disease.
For example, screening of (1) pregnant mothers for Hb percent, for blood grouping and
Rh-typing, urine for albumin, sugar and microscopy, VDRL, Elisa for HIV, surface
antigen for HBV; (2) all school children are screened for height and weight, vision defects,
hearing defects, dental defects, and congenital defects; (3) screening of all elderly people
for diabetes, hypertension, hearing defects, cataract, refractive error, glaucoma, etc.
Multiphasic Screening
For the diagnosis of one disease different tests are applied in different phases.
For example, the whole population is screened by testing urine for sugar. Individuals who
are positive for glycosuria are subjected for fasting blood sugar level (FBS) at the next
phase. Individuals who have FBS > 120 mg/dL are subjected for oral glucose tolerance
test to find out true diabetics.
Opportunistic Screening:
Also known as Case finding screening, application of screening tests on a patient seeking
medical advice for other reasons.

Criteria for Screening

The screening test to be applied should have the following criteria:

Disease criteria:

❖ It should be a disease of public health importance.

❖ The natural history of the disease should be adequately understood.
❖ It should have a recognizable latent or early asymptomatic stage.
❖ It should have a test by which the disease can be recognized before the onset
of signs and symptoms.
❖ There must be available facilities to confirm the diagnosis
❖ There must be an available effective treatment.
❖ It should have a good prognosis if treated-
❖ The benefits from the early detection exceed the cost and risks.
Test criteria:

❖ Safe, easy & cost effective.

❖ Capable of being applied to a large number of people rapidly.
❖ Valid (Accurate).
❖ Reproducible (consistent results) – repeatability.
❖ Acceptable to the people at whom it aimed.

Reliability: The test should be reliable (repeatable or reproducible). That means that the
test will give the same results if repeated multiple times under the same conditions.

Variations in the results may occur and they may be due observer, biological and
mechanical variations.

a. Observer variations: These can be intra-observer and interobserver variations.

i. Intra-observer variation:

It's called Within observer variation, this variation is observed in the test result, when the
same observer applies the test on same individual at different times under the same
identical situations.

For example, recording different blood pressure readings in the same patient by the same
observer using the same sphygmomanometer .

This type of variation can be overcome by taking the average of several readings.
ii. Interobserver variation:
It's called Between observer variation. this variation is observed in the test result, when
two or more observers apply the same test on the same individual, under the same
identical situations.
For example, if one observer finds tubercle bacilli in the sputum smear, while the other
observer finds it normal. This variation can be overcome by standardization of the
procedures, techniques and intensive training of the observers.
b. biological variation:
it's called Subject variation.
This variation is observed in the test result in the same individual, when applied under
identical conditions. This occur due to biological variation in some of physiological
variables such as blood sugar, blood pressure, pulse rate and respiratory rate Etc. changes
in observed parameters can be observed in cases of cervical smear taken from the same
woman may be normal in one day and abnormal in other day.
Biological variation can be overcome by repeated measurement over time. This variation
can be a tremendous source of error in epidemiological researches and studies.
c. Mechanical variation:
This variation is observed in the test result, due to defect in the machine or procedure
used for measurement.
This variation can be overcome by checking the machine or the procedure.
Validity: the screening test should be valid (i.e. accurate)

Validity of a test means the ability of a test to identify those with disease correctly from
those without the disease among the apparently healthy people.

For example, oral glucose tolerance test is a more valid test than glucosuria examination.

Treponema pallidum immobilization test is more valid than testing blood for VDRL.

Validity has got two components—sensitivity and specificity, They are expressed as
percentages.

The relationship between the results of a screening test and the occurrence of disease is
interpreted as follows:

Interpretation:

True positive (a) = Means those who have the disease and the test result
is also positive.
 False positive (b) = Means those who do not have the disease but the test
result is positive.
False negative (c) = Means those who have the disease but the test result
is negative.
True negative (d) = Means those who do not have the disease and the
test result is also negative.

The following indicators are used to evaluate the validity of screening test

i. Sensitivity: It is the ability of a test to identify correctly those having the disease, i.e.
true positives.
(i.e. percentage of diseased persons, showing positive result by the test).

(𝑇𝑃) 𝑎
Sensitivity = X 100
(𝑇𝑃)+(𝐹𝑁) 𝑎+𝑐

TP= true positive FN= false negative

When Sensitivity of a screening test is 90 % means, 90% of the persons who have the
disease are correctly identified as ‘True positives’ and remaining 10% of diseased persons
are wrongly identified as negative for the disease (i.e. Not having the disease) their results
were, False negatives.

ii. Specificity: It is the ability of the test to identify correctly those not having the disease,
i.e. true negatives.

(i.e. percentage of non-diseased persons, showing negative result by the test)

 (𝑇𝑁) 𝑑
Specificity = x 100
(𝑇𝑁)+(𝐹𝑃) 𝑑+𝑏

TN= true negative FP= false positive

Lest set an example:

1,00,000 persons are subjected to both ELISA as a screening for HIV infection and to
PCR the gold standard test for HIV infection diagnosis.
The results are presented in the 2x2 table:

1000 positive by PCR and 10890 tested positive by ELISA, out of which 990 were
positive by PCR as well.

1000 positive = Total confirmed positive by diagnostic test

TP= 990 (given in the example)
True positive are those who are tested positive by screening and diagnostic test as well
FP= ??
The false positive are tested positive by the screening test and tested negative by
diagnostic test.
Calculated by subtraction of true positive from the total positive of screening test.
Total positive of screening test = 10890 (given in the example)
TP= 990 (given in the example)
FP= 10890 – 990 = 9900

FN= ??
False negative are those who have the disease and not detected by the screening test (i.e.
negative by screening test but positive by diagnostic test)
Calculated by subtraction of true positive from the total positive of diagnostic test.
FN= Total positive of diagnostic test – TP

Total positive of diagnostic test = 1000 (given in the example)

TP = 990. (given in the example)

FN=1000 – 990 = 10

TN= ??

(1)

True negative can be calculated by subtraction of FP from total negative by diagnostic

test.
TN= Total negative by diagnostic test – FP

Total negative by diagnostic test =??

FP = 9900 (calculated earlier)

Total negative by diagnostic test = Total targeted – Total positive by diagnostic test

Total targeted = 100000

Total positive by diagnostic test = 1000 (given in the example)

Total negative by diagnostic test = 100000 – 1000 = 99000 so

TN= Total negative by diagnostic test – FP

TN= 99000 – 9900= 89100.

(2)

TN= ???

True negative are those who are tested negative by both screening test and diagnostic test.

Its Calculated by subtraction of false negative from the total negative of screening test.

FN= 10 (calculated earlier)

Total negative of screening test = ??

This can be calculated from subtraction of total positive of screening test from targeted
people.
Total positive of screening = 10890

Targeted people = 100000 so

Total negative of screening test = 100000 - 10890 = 89110

We calculated the Total negative of screening test to find out the number of TN which
can be calculated by subtraction of false negative from the total negative of screening test.

TN = 89110 – 10 = 89100

In this example:

(𝑇𝑃) 𝑎
Sensitivity = = X 100
(𝑇𝑃)+(𝐹𝑁) 𝑎+𝑐

990
= = 0.99, or 99%.
1000

(𝑇𝑁) 𝑑
Specificity = X 100
(𝑇𝑁)+(𝐹𝑃) 𝑑+𝑏

89100
= = 0.9 = 90%.
99000

Sensitivity and specificity are inversely related so if sensitivity is increased the specificity
is decreased. So, a perfect screening test with 100% sensitivity and 100% specificity is
practically rare.
Predictive value of a test: (The diagnostic power of a test)

iii. Predictive value of a positive test: It means the probability of an individual with

positive results to be really having the disease.

(𝑇𝑃) 𝑎
Predictive value of a positive test = x 100.
(𝑇𝑃)+(𝐹𝑃) 𝑎+𝑏

TP= true positive FP= false positive

990
In the above example, PPV = =9.1%.
10890

So, if a patient has tested positive on ELISA the chances of him being really infected by
HIV is only 9%.

iv. Predicted value of a negative test: It means the probability of an individual with
negative results to be really not having the disease.

(𝑇𝑁) 𝑑
Predictive value of a negative test = = x 100.
(𝑇𝑁)+(𝐹𝑁) 𝑑+𝑐

TN= true negative FN= false negative

89100
In our above example, NPV = = 99.9%
89110
The more sensitive a test is, the better will be the negative predictive value of the test (the
more confident the clinician can be that a patient with a negative test result does not have
the disease being sought).

False positive and false negative:

Unlike epidemiologists who think about sensitivity and specificity, clinicians always
consider false positive and false negative results.

v. False positives: These are the percentage of non-diseased persons who wrongly
identified as having the disease, because of positive result of the test.

𝑏
False positives = x 100.
𝑏+𝑑

A screening test with high specificity gives very low number of false negative results.

Individuals who not have the disease and falsely had a positive result by screening test
may undergo to more inconvenient, expensive diagnostic tests until they declared to be
free from disease.

vi. False negatives: These are the percentage of diseased persons who wrongly identified
as not having the disease, because of negative result of the test.
𝑐
False negative = x 100.
𝑎+𝑐

A screening test with high sensitivity gives very low number of false negative results.
Patient who has the disease and falsely get negative results by screening test is falsely
assured and may ignore the signs and symptoms of the disease then the treatment is
postpended, this may be dangerous if the disease is serious and the next screening test is
still far away in time.

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،‫شعورا‬
ً
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