Advances in molecular and cell biology have provided an understanding
of the mechanisms of disease at molecular and genetic levels. This
understanding can now be translated into diagnostic, prognostic, and
therapeutic applications in modern medicine. Abnormal molecules not only
provide a signature for the presence of a disease, but may also provide
the clues for design of drugs targeting the specific abnormal function.
Laboratory Medicine & Molecular Diagnostics (LMMD) is an important service provider constituent of RGCB with a long and proud tradition of providing leading edge laboratory support for clinical care and applied biomedical research. The facility is a Department of Health Research, Government of India designated Class I National Diagnostic Virology Network Laboratory The facility provides DNA-based testing for a number of inherited and acquired genetic diseases besides molecular virology and bacteriology. Our facilities include PCR and real-time PCR devices, automized DNA extraction devices as well direct access to Ion Proton, Ion Torrent & ABI DNA sequencers, high end flow cytometers, confocal, electron microscope, high resolution microscopes and mass spectrometers. As Molecular Diagnostics is a rapidly evolving field, the laboratory is continually modifying its test menu and test algorithms so as to keep abreast of current developments and provide the best services to our patients. In addition, the facility provides comprehensive education & training in application of molecular sciences for disease management.
LMMD offers molecular tests that provide diagnostic information, predict sensitivity to chemotherapeutic agents and aid in the management of patients with neoplastic disorders. It is now possible to phenotype and genotype human tumours to increase the accuracy and reproducibility of pathologic diagnosis. Neonatal screening using next generation sequencing, for intrauterine genetic aberrations suggestive of paediatric neoplasm risk is a major on-going research program.
These services use evaluation of genotype as a tool for prediction of disease risk and drug response. The mechanisms of cardiac arrhythmias in a number of conditions including ischaemic heart disease, Brugada syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy and Long QT Syndrome are analyzed by identifying genes responsible for causing sudden cardiac death, identifying markers of risk in specific patient groups and providing evidence for optimising prevention & treatment strategies.
LMMD collaborates with transplantation medicine physicians who need the services of gene sequencing. This work is carried out to understand the mechanisms linking genetic variation with drug response, based on the premise that strength of genetic associations with risk factors that lie in the causal pathway should be concordant with observed genetic associations with drug dosage end-points. Personalized drug dosage and regime determination for transplant medicine is thus a major highlight of this laboratory service.
LMMD provides rapid-turnaround diagnostic virology for more than 30 viruses of clinical importance. The full range of tests provided can be found online at www.rgcb.res.in/lmmd. Virus detection is mainly carried out using polymerase chain reaction (PCR)-based assays, several of which are multiplexed as well as real time PCR tests. All PCR assays used in the laboratory have undergone extensive validation by QCMD of United Kingdom and incorporate all needed internal controls.
Hemoglobinopathies testing and genetic counseling: The primary objective of this target is to provide recommendations to physicians, midwives and genetic counselors involved in pre-conceptional or prenatal care regarding carrier screening for thalassemia and hemoglobinopathies (e.g., sickle cell anemia and other qualitative hemoglobin disorders).Screening of individuals at increased risk of being carriers for thalassemia and hemoglobinopathies can identify couples with a risk of having a pregnancy with a significant genetic disorder for which prenatal diagnosis is possible. This would include a complete blood count as well as hemoglobin electrophoresis or HPLC, abnormal hemoglobin and HbF quantitation,and H body staining and genetic analysis.
Molecular diagnostics has evolved dramatically over the past 15 years providing benefits of quicker turnaround times, improved sensitivities and increased accuracy. These new techniques have greatly improved the detection of many viral and bacterial infections, cancer, cardiovascular disease as well as genetic disorders. Technology drives this industry. The global molecular diagnostics market is expected to reach US$5.8 billion by 2015, according to a report by Global Industry Analysts, Inc. New technologies, innovations and expanded applications for tests have been fueling steady growth in the field. The market for molecular diagnostics is very broad because it is not limited to one field of study. Molecular techniques are utilized in genetics, infectious disease, oncology, hematology and pharmacology. While blood screening and infectious disease contribute to the majority of the market; DNA sequencing is a big factor in the growth of molecular diagnostics. The emerging technology of personalized medicine relies on DNA sequencing and molecular diagnostics. Personalized genome sequencing helps determine the best approach to patient care, whether it is preventive, diagnostic or therapeutic
LMMD offers a wide range of consultancy services beginning from conceptualization, development, implementation and final execution of a given project. With LMMD’s core competence and experience the facility undertakes a spectrum of consultancies ranging from individual services right up to turnkey solutions. LMMD works hand in glove with RGCB’s business development group (GARUDA) and the client team in implementation of projects. By a thorough understanding of the client’s requirements LMMD develops, provides and translates efficient and cost effective solutions.
LMMD/RGCB, has taken over the Biotechnology incubation centre built by KINFRA, funded by the DBT, Gov. of India. This is a BSL3 facility compliant of GMP and ISO 4 or Class 10 cleanroom standards. LMMD is provides pay and use facility to the 6 incubatees at the facility and to neighbouring Universities and Educational Institutions. LMMD runs a full fledged Molecular Biology facility, with PCR, qPCR, Gel Documentation, blotting, and electroporation, covering up to sequencing, Analytical lab facility with LC MS/MS, GC, HPLC etc., plant product extraction facility with super-critical extractor and downstream processing, fermenters and micro-propagation facility. Moelcular Diagnostic testing inclusive of bacteriology, virology, non-commmunicable disease testing and inherrited disease testing is additionally done, as a service to the many hospitals in and around Kochi.
LMMD also serves as a rotation site for residents and fellows of medical fraternity to become familiar with the molecular biological techniques and theory used in molecular diagnostics. The laboratory features a climate of collegial interactions, making it mutually beneficial for all participants. LMMD also runs a Biotechnology Skills Development Program in molecular diagnostics intended to generate immediately employable work/research force. Trainees will become familiar with professional attributes associated with sample analysis including correlating clinical history with laboratory requests to ensure proper molecular diagnostic testing, selection of tests, review of test progress, interpretation and communication of results besides review of quality assurance and proficiency testing results.
Research projects in the laboratory utilize the vast amounts of data and material generated by clinical work in the department.Translational research is the basis for the testing performed at LMMD. The facility is committed to the adoption of the latest technologies in order to provide the highest quality and most cost-effective testing services to meet clinical needs. This experience, and close association with clinicians and researchers in various academic medical centers make LMMD a productive partner for researchers, companion diagnostics and clinical trial test development. LMMD also offers a full range of cost-effective molecular laboratory testing to support research efforts. New assays not on the test menu can be validated and performed to meet the needs of individual research investigators. In addition, through our in-house research efforts, strategic alliances with key vendors and collaborations with other academic and commercial laboratories, we are continually improving our test offerings.