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Molecular Diagnostics- Present and Future

The market of laboratory diagnostics is growing and is said to achieve a growth rate of around 30-35 per cent in India

"Over the years the quest to prevent cancer, improve quality of life in cancer patient has lead to the application of specialised techniques like PCR, FISH etc, which now have become part of the pathologist's armamentarium" - Dr C N Srinivas Head- Clinical Lab Services, Transplantation Immunology MIOT Hospitals, Chennai

Mr X aged 13 years was diagnosed to have a chronic hepatitis due to Hepatitis B virus infection. The physician requested for A PCR Viral load before treatment. After treatment the physician again requested for the same test.

Mr Y aged 45 years was suffering from breast cancer. Her mother had breast cancer. The other female family members were anxious to know whether they have tendency to develop breast cancer. The treating oncologist recommended them a new test to be done by name BRCA by FISH.

The range of diagnostic tools available to the clinician has been steadily expanding since the advent of modern medicine. We are, however, at the threshold of seeing an exponential rise in this area, akin to the rapid developments in the field of digital technology that occurred over the last decade. The driving force behind the rapid expansion of the diagnostic market can be attributed to developments in biomolecular and genomic technologies.

Today the diagnostics in India and world is changing from isolated medicine to personalised medicine. The market of laboratory diagnostics is growing and is said to achieve a growth rate of around 30-35 per cent in India. All major hospitals, standalone labs and labs in tier II cities are bracing to move to place high end equipment to cater to the diagnostic need of the society. The evolving laboratory -'Gen X' laboratory is sophisticated with Autoanalyser, walk away ELSIA and CLIA machine. These labs are also equipped to do molecular diagnostics.

What is Molecular Diagnostics (MDx)?

The Application of study of Nucleic Acid (DNA or RNA) and proteins to test for specific states of health or disease. The diagnostics had its birth in detection of infectious diseases and is now in cancer diagnostics, hematology and In-vitro fertilisation.

Why this seminar in MEDICALLAB?

The seminar is timely decided to educate physicians and laboratorians about the utility of the molecular diagnostics. The objective of the seminar is:

• To realise the potential of the molecular diagnostics.
• To understand the requirements of setting up a molecular diagnostics lab.
• To promote optimum use of molecular diagnostics.
• To understand that timely detection of certain diseases can save money to health care system.
• To bridge a bond between physician and laboratorian who does these tests.

Who can attend the seminar?

The seminar is intended for the physician, oncologist, haematologist, pathologist, microbiologist, administrator, lab manager and who ever is interested to develop Mdx.

What topics are covered in this Seminar?

The seminar is well designed to meet the objectives.
lBasics of the MDx and setting up of MDx lab. lSolid tumour MDx. lInfectious disease and MDx. lHaemtological disoders and MDx.

Basics of MDx and Setting up lab

Every laboratorian wishes to add new menu and expand the laboratory to help the physician in his practice. The word molecular diagnostics sends a shiver in the mind of administrator thinking that its investment would be high and the breakup will take time. Dr Rajan Dewar from Harvard Medical School will enlighten us on how to build a cost-effective MDx and take steps to grow and improve the productivity. His talk will give a glimpse of the space required, techinical requirement including instruments and personnel.

Regarding personnel, I would like to state that education and staffing are the biggest challenge. The shortage of the well qualified and skilled staff is on top of the often discussed shortage of laboratorains in general. The problem is going to stay with us until we develop resources to man these high end laboratories.

The curriculum of the medical education should include the theory and practical application of the MDx. The educational advisors should try to improve the knowledge base of the medical profession by having CMEs and conferences, directed on the improved utility of these tests. Dr Rekha Pai from CMC Vellore will cover the foundation of the MDx and educate us on the minimum thought required to understand the basics of the MDx and help us eradicate the fear in us.

Solid Tumour Diagnostics

The traditional role of the surgical pathologist has been the morphologic evaluation of human tumours in a search of clues for their cell of origin (histogenesis) and anticipated behaviour. This is achieved by studying the tumour under light microscopy and special assays. This is important to oncologist to direct his therapy and prognosis.

Over the years the quest to prevent cancer, improve quality of life in cancer patient has lead to the application of specialised techniques like PCR, FISH etc, which now have become part of the pathologist's armamentarium.

The goals of molecular pathology in cancer include: 1) To establish a definitive diagnosis, based on recognition of 'fingerprints' of unique molecular alterations in specific tumour types. 2) To provide early detection of tumor cells using sensitive molecular techniques, thus anticipating therapeutic intervention. 3) To render prognostic information of clinical relevance, through the assessment of molecular predictors of outcome. 4) To assist in the selection of individualised treatment regimens, saving unnecessary drug toxicity. Protocols based on molecular markers will increase the chances for cure by opting for the right management approach, and improve the quality of life of patients with cancer. These and other uses of the application of FISH and PCR will be dealt in detail by Dr ToddycBarry, Clarient Diagnostics, USA.

Infectious Disease and MDx

Dr Rodrigues, leading Infectious Disease and Molecular Diagnostician from Mumbai will help us to know how the application of MDx is seen as a boon in detecting and preventing infectious disease. The birth of MDX was from Infectious Disease (ID) and one of the commonest uses of the MDX is in ID. The Nucleic Acid Testing (NAT) is commonly used in blood bank to detect three common transfusion transmitted Diseases- HIV, HBV and HCV. The extension of the NAT was using PCR in detection of infectious bugs like Mycobacterium, Chlamydiae, CMV, EBV etc.

Potential Benefits of the MDx in Infectious Disease:

• Screening for infectious agents for eg blood and blood products screened by NAT for HIV,HBV and HCV to achieve patient safety.
• Diagnosis-early identification of communicable disease.
• Patient monitoring- quantification of viruses performed to monitor patient responsive: Quantification of HBV in HBsAg positive patients.
• Resistance- ability to detect resistance of micro-organism initial to redirect drugs if need be. For eg multidrug resistance tuberculosis.

Hemato-Oncology and MDx

The rapid development of MDx in field of Hemato-oncology was possible due to intense research and quest for answers through Cytogenetics. Cytogenetics is a division of MDx which deals with study of chromosomes using cell culture. The breakthrough was from the time Philadelphia Chromosome was identified as tumour marker to leukaemia (blood cancer). Later, WHO and European group started looking at the prognosis and therapeutic response by applying immunohistochemisty and cytogenetics. Currently the WHO and ASCO recommends the use of Cytogenetics and MDX for the classification of the leukaemia and preleukemia (MDS).The classification is important in therapitics and prognosis of the case.

The details of the utility of these two- Cytogenetics and Hemato-oncological utility will be dealt by Dr Ira Goud, Hyderabad and also by Dr Rajan Dewar, HMS, USA.

The Future

The evolution of MDX has been and continues to be impressive one. We will shift from the concept of diagnostic medicine to preventive medicine with advances in the field of the molecular diagnsotics. As field grows, shifts and changes, laboratorians and physicians must stay abreast of its clinical applications. Availability of personnel, standardisation, proficiency testing and controls presents another challenge. The home grown IVD vendors should take a look to design instruments which are more easy, simple to operate and cost-effective to be utilised by under-resource countries.

drcnsrinivas@gmail.com