Medical researchers have discovered a new and efficient method for early diagnosis of tuberculosis in children.

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Discovery of New Genetic
‘Signature’ Offers Hope for Early
Diagnosis of Tuberculosis in
Children
Generally termed as an infectious disease,
tuberculosis (TB) is caused by a bacterium called
“Mycobacterium tuberculosis” that spreads through
cough or sneeze
droplets passed into
the air from an
infected person. This
bacterium, when
directly inhaled, multiplies in the lungs causing severe
chest pain and persistent coughing, which can bring
up blood.
Early and accurate diagnosis and Medical Coding is
crucial for controlling the spread of TB. The good
news is that an international team of researchers
from Kenya Medical Research Institute (Kemri) and
the international community has discovered a new
test that promises early detection and treatment of
TB.

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Diagnosing the symptoms of TB in children in its
premature stage is tricky. Often, the disease is
recognized in its last stages, only when a child is
critically ill and when the disease has spread from the
lungs to the brain or other organs, increasing the risk
of death. This incessant war against TB now seems to
have come to an end after the discovery of the new
genetic signature which offers an efficient way of
diagnosing the disease early in children.
A Simple and Rapid Test for Early Diagnosis of
Tuberculosis
The findings of the international team of researchers
were published on 30 April 2014 in the 'New England
Journal of Medicine'. According to the research, a
distinctive genetic ‘signature’ found in the blood of
children with tuberculosis (TB) offers promise for
improved diagnosis of the disease. As per the study,
the disease can now be identified in about 80 percent
of cases by just looking at 51 specific genes in the
blood of children with TB. The researchers expect that
the findings can be used to develop an improved,
affordable, and quick diagnostic test.
Researchers claim that in most cases, the symptoms
of TB in children are similar to many other childhood

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diseases and the standard tests applied on adults are
not effective on children. Though the disease is
treatable, thousands of children still die every year
due to delayed diagnosis.
The study surveyed around 2800 children with TB
symptoms admitted in hospitals in Kenya, South
Africa and Malawi. A thorough examination of the
blood samples of these children was done using
ribonucleic acid (RNA) expression microarrays. The
technique verifies all genes in the human genome
(over 30,000 genes) and identifies those genes which
are activated or suppressed in each child’s blood.
Researchers used the samples taken from South
African and Malawian patients to see discover a
“signature” of TB, that is which genes were activated
or suppressed in those affected by the disease. It was
found that found that TB could be identified from
other diseases by examining just 51 genes from over
30 000 in the human genome and checking whether
they were activated or suppressed. The researchers
used this information to assign a single TB risk score
for each child. When tested in the Kenyan children,
the TB risk score accurately diagnosed over 80 per
cent of those with TB. On the other hand, a negative
result accurately ruled out a diagnosis of TB. It was

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found that TB could be distinguished from healthy
children with latent TB infection with a 42 gene
signature.
Importance of Early Diagnosis
Accurate and precise testing for TB in children will
help in early diagnosis of the disease and help contain
its spread to the brain and other organs. This in turn,
will improve outcomes and reduce treatment costs.
Physicians also have to be appropriately reimbursed
for the treatment they provide. Claims for TB
diagnosis are submitted using ICD-9 medical codes
such as
• 010 Primary tuberculosis infection
• 011 Pulmonary tuberculosis
• 012 Other respiratory tuberculosis
• 013 Tuberculosis of meninges and central nervous
system
• 014 Tuberculosis of intestines peritoneum and
mesenteric glands
• 015 Tuberculosis of bones and joints
• 016 Tuberculosis of genitourinary system

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• 017 Tuberculosis of other organs
• 018 Miliary tuberculosis
According to World Health Organization (WHO)
reports, more than 70,000 children worldwide die
from TB each year due to late diagnosis and spread of
the infection throughout the body. In addition to
helping contain the spread of the disease, early
diagnosis is also crucial to prevent unnecessary TB
treatment given to thousands of children who in
reality, suffer from other diseases.
Researchers emphasize that collaboration from
biotechnology experts and industrial partners is
required to convert the new findings of the
international research team on TB diagnosis into
accurate, simple and cheap tests that can be applied
in hospitals, healthcare clinics and other resource-
poor regions of the world where TB is prevalent.