Molecular Pathology, an emerging field withinpathology which plays an integral role in patient care though analysis ofnucleic acids from tissue and fluids. While conventional pathology is based onclinical and histopathological features, molecular testing acts as an adjunctfor diagnosis, prognosis and treatment decision for clinically unusual anddifficult to diagnose lesions. Withthe advancement in the knowledge of molecular genetics, development of newtechnologies and targeted therapies, the volume and complexity of moleculardiagnostics is increasing at an unprecedented rate. Molecular pathology is beingroutinely used in cancers and infectious diseases. Cancer being the mostcomplex disease is controlled by numerous genes and develops due to spectrum ofgene mutations, aberrant gene expressions and abnormal gene pathways.
Molecular diagnostics thus plays an important role incharacterizing or classifying tumors, detection of these genetic alterationsthat relate to prognosis, or define targets that predict therapy response andother treatment decisions. The results of these tests directly influencemanagement of individual patients, which is referred to as personalizedtherapy. (1)Moleculartesting has now become an essential part of patient’s work up in surgicalpathology, cytopathology and haematopathology for both solid and haematologicalmalignancies viz. Sarcoma translocation detection, Clonality testing in Lymphoma,Her2/neu amplification in breast cancers, BCR-ABL expression in Leukamia, genemutation screening of BRAF, KIT, PDGFRA, RAS and many more.
In addition to diagnostics, molecularpathology is also playing role in screening and risk assessment of patients. Inbreast cancer, germline mutations testing of BRCA1 and BRCA2 is important forscreening of women with family history and traditional risk factors. Diagnostictests can also be used for screening of patients for a particular cancers such asmolecular testing of Human Papilloma Virus (HPV) for cervical cancer screening.A variety of different techniques areemployed in molecular diagnostics ranging from basic polymerase chain reaction(PCR), cytogenetic tests, fluorescent in situ hybridization (FISH) to morecomplex high throughput techniques such as microarrays and next generationsequencing. The specific and actionable insights that molecular diagnosticsprovide at every stage of care is Molecular pathology in addition to beingcritical in routine diagnostics also acts as a key interface between clinicaland research pathology.
With rapid evolutions and emerging new technologies,pathogens, new genetic abnormalities, there is a need for transition fromresearch to clinical laboratories and to integrate new discoveries in moleculardiagnostics. This translational molecular medicine will strengthen the understandingand utility of science, research and technology in medicine and healthcare. 1. Rational ofthe study Molecular Diagnostics and translationalresearch particularly for cancers has now become and indispensable part ofpathology for both diagnostics and research purposes, and facilitates the translationof research into routine practice. It is therefore imperative to set upmolecular diagnostics core facility in any oncology setting to provide precisionmedicine and clinical benefits to patients.
The lack of a molecular settingplaces the patient at a significant disadvantage when competing for clinicalresources. However, the ability to fully realise the potential patient benefitsis being constrained by the lack to infrastructure to support its clinicaltranslation. Other comparable centres are already investing in theinfrastructure to realise these benefits. This proposal provides the initialstep against the long term vision to enable the organization to deliver patientbenefits.Recently, ICMR’s National Center for Diseaseand Informatics Research released the most recent cancer rates for India, basedon data from 27 population-based cancer registries located across the countryincluding all northeast states. A very high incidence of cancers of all sitesin general such ad esophageal, head-neck and tobacco related cancers in particular has beenreported in North-East region of India.
(4, 5)In this context, it is necessary to quicklyadapt the organisation of work of the hospital pathology laboratoriesperforming molecular biology tests in order to meet the growing demand ofoncologists in the field of targeted therapies.The reduction in whole genome sequencingcosts and turn around time, as technology improves, is increasing the viabilityof translating this capability into clinical service provision.The traditional hospital structure could notmeet the demands of translational medicine development any longer, therefore,we propose here to buid up a molecular diagnostics and translational medicine facilityto achieve accurate diagnosis and better patient outcome.