Molecular diagnostics thus plays an important role in characterizing
Molecular Pathology, an emerging field within
pathology which plays an integral role in patient care though analysis of
nucleic acids from tissue and fluids. While conventional pathology is based on
clinical and histopathological features, molecular testing acts as an adjunct
for diagnosis, prognosis and treatment decision for clinically unusual and
difficult to diagnose lesions.
the advancement in the knowledge of molecular genetics, development of new
technologies and targeted therapies, the volume and complexity of molecular
diagnostics is increasing at an unprecedented rate. Molecular pathology is being
routinely used in cancers and infectious diseases. Cancer being the most
complex disease is controlled by numerous genes and develops due to spectrum of
gene mutations, aberrant gene expressions and abnormal gene pathways. Molecular diagnostics thus plays an important role in
characterizing or classifying tumors, detection of these genetic alterations
that relate to prognosis, or define targets that predict therapy response and
other treatment decisions. The results of these tests directly influence
management of individual patients, which is referred to as personalized
testing has now become an essential part of patient’s work up in surgical
pathology, cytopathology and haematopathology for both solid and haematological
malignancies viz. Sarcoma translocation detection, Clonality testing in Lymphoma,
Her2/neu amplification in breast cancers, BCR-ABL expression in Leukamia, gene
mutation screening of BRAF, KIT, PDGFRA, RAS and many more.
In addition to diagnostics, molecular
pathology is also playing role in screening and risk assessment of patients. In
breast cancer, germline mutations testing of BRCA1 and BRCA2 is important for
screening of women with family history and traditional risk factors. Diagnostic
tests can also be used for screening of patients for a particular cancers such as
molecular testing of Human Papilloma Virus (HPV) for cervical cancer screening.
A variety of different techniques are
employed in molecular diagnostics ranging from basic polymerase chain reaction
(PCR), cytogenetic tests, fluorescent in situ hybridization (FISH) to more
complex high throughput techniques such as microarrays and next generation
sequencing. The specific and actionable insights that molecular diagnostics
provide at every stage of care is
Molecular pathology in addition to being
critical in routine diagnostics also acts as a key interface between clinical
and research pathology. With rapid evolutions and emerging new technologies,
pathogens, new genetic abnormalities, there is a need for transition from
research to clinical laboratories and to integrate new discoveries in molecular
diagnostics. This translational molecular medicine will strengthen the understanding
and utility of science, research and technology in medicine and healthcare.
1. Rational of
Molecular Diagnostics and translational
research particularly for cancers has now become and indispensable part of
pathology for both diagnostics and research purposes, and facilitates the translation
of research into routine practice.
It is therefore imperative to set up
molecular diagnostics core facility in any oncology setting to provide precision
medicine and clinical benefits to patients. The lack of a molecular setting
places the patient at a significant disadvantage when competing for clinical
resources. However, the ability to fully realise the potential patient benefits
is being constrained by the lack to infrastructure to support its clinical
translation. Other comparable centres are already investing in the
infrastructure to realise these benefits. This proposal provides the initial
step against the long term vision to enable the organization to deliver patient
Recently, ICMR’s National Center for Disease
and Informatics Research released the most recent cancer rates for India, based
on data from 27 population-based cancer registries located across the country
including all northeast states.
A very high incidence of cancers of all sites
in general such ad esophageal, head-neck and tobacco related cancers in particular has been
reported in North-East region of India. (4, 5)
In this context, it is necessary to quickly
adapt the organisation of work of the hospital pathology laboratories
performing molecular biology tests in order to meet the growing demand of
oncologists in the field of targeted therapies.
The reduction in whole genome sequencing
costs and turn around time, as technology improves, is increasing the viability
of translating this capability into clinical service provision.
The traditional hospital structure could not
meet the demands of translational medicine development any longer, therefore,
we propose here to buid up a molecular diagnostics and translational medicine facility
to achieve accurate diagnosis and better patient outcome.