‘Good management of private labs helps to generate funds and improves service quality’

Dr Manjeet Kaur is currently the Head of Department of Genetics at Dr Lal PathLabs Pvt Ltd, New Delhi. Armed with a PhD from biochemical division of the National Institute of Communicable Diseases (NICD), New Delhi, she started her career in the field of genetic disorders at All India Institute of Medical Sciences (AIIMS), New Delhi in 1988. She was awarded IMPACT Foundation fellowship in 1990 for training in diagnosis of inborn errors of metabolism at world’s famous Willink Biochemical Unit, Royal Manchester Chidren’s Hospital, Manchester, UK. In 1994, Dr Kaur was awarded UNESCO/ TWAS Fellowship in Human Genome to work on “ Mutation analysis of G6PD Gene in Indian subjects” at haematolgy department, Hammersmith Hospital, London. Dr Kaur was awarded “Genius Millennium Award” in 2002 for her outstanding achievement and significant contribution to mankind on May, 2002 by All India Management Council and Russian Culture Society. In an interview with Shardul Nautiyal, Dr Kaur gives a low down of the latest technologies used in genetic labs.

Please brief me about the cost, financial, personnel and infrastructural feasibility of using tandem mass spectrometry, considered a breakthrough advancement in genetic defects.

Tandem mass spectrometry is a multi analyte technology, which is able to detect about 30 metabolic genetic disorders in one test, from one same sample. This technology can detect the presence of disorders before the appearance of clinical symptoms, thus giving good time to the physician for saving the child from mental retardation, early death and other physical disabilities.

The speed of tandem mass spectrometry makes it well equipped to handle 500 samples in a day. Before tandem mass spectrometry came, one had to undergo multiple tests, many of them not being available in India. This made it difficult to establish the cause of mental retardation and early death. Non-availability of appropriate technology also caused long term hospitalisation for the sick children, causing financial burden and mental agony to the parents.

With the help of tandem mass spectrometry, diagnosis can be available in a day. Ignoring newborn screening is already a painful tragedy for many families in India. Even symptoms like fever, vomiting, infection may be the result of some metabolic genetic disorders. I would like to quote Dr Harry Hannon, director, Newborn Screening at US Centre for Disease Control and Prevention, “Some infants aren’t being caught and treated when possible, is a national tragedy and tandem mass spectrometry should be the standard care for all newborns, much as blood pressure test is part of every medical checkup (Ref: Wall Street Journal, June 2004).”

The cost of the instrument is approximately Rs two crore. It requires utmost care as electric and air-conditioner failure can cause damage to the instrument. Interpretation of results also requires a great level of expertise.

Are most genetic labs in India performing different types of cytogenetic tests in cancer?

Cytogenetics is the study of chromosomes and related diseases. When chromosomes are studied in humans, it is called human cytogenetics. Cytogenetic abnormalities have been identified in a diverse spectrum of diseased state such as early embryonic death, minor to major congenital defects, cancer and infertility or sterility. Cancer cytogenetics means analysis of chromosomes in a sample from patient with known or suspected cancer condition.

In molecular cytogenetics, instead of staining chromosome with a dye, molecular probes are detected with fluorescent labels to determine the presence or absence of chromosomes, specific DNA sequences or genes. While molecular cytogenetic techniques focus on specific chromosomes, chromosome regions and unique DNA sequences or genes, standard cytogenetic studies allow us to survey the whole genome for abnormalities of chromosome number or structure.

The most commonly used molecular cytogenetic technique is Fluorescence In-Situ Hybridisation (FISH). The other tests available are subtelomere analysis, spectrokaryotyping using multicolour DNA probes (SKY) and comparative genomic hybridization (CGH). Microarray technology can look at multiple genes of a particular cell type simultaneously, thus allowing for a faster and broader test.

Apart from Dr LalPath Labs, which is well equipped for conventional cytogenetics, flow cytometry and FISH technology for about 100 different tests for various kinds of cancer and for congenital anomalies, the other centres working in the area of cytogenetics for cancer are AIIMS at New Delhi, Tata Memorial Hospital, Jaslok Hospital, Sushrusha Hospital, Hinduja Hospital and Breach Candy Hospital in Mumbai, Regional Cancer Centre, Thiruvananthapuram, Cancer Institute at Amrita Institute of Medical Science (AIMS) and Research Centre, Kochi, Cancer Institute Hospital, Chennai, Kidwai Memorial Institute of Oncology, Bangalore.

Human cytogenetics for other disorders apart from cancer is conducted at AIIMS, Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, KEM Hospital, Mumbai, St John Medical College, Bangalore and some centres at Pune.

Please brief me about the accreditation of these labs.

According to an estimate, there are nearly 50,000 clinical laboratories mostly in urban areas. Forty laboratories have obtained accreditation from National Accreditation Board for Testing and Calibration Laboratories (NABL), most prominent being Dr Lal PathLabs, New Delhi; SRL Ranbaxy, Mumbai. India has three labs accredited by College of American Pathologists (CAP) that include Dr LalPath Labs in New Delhi and SRL Ranbaxy.

Government hospitals are marred by paucity of funds. What is the situation with private labs?

Financial aspect is the management’s decision of each individual laboratory. Infrastructure of private labs is capital-intensive, but more labour intensive requiring more than 500 employees for a good setup comprising specialised doctors, technicians, personnel for marketing, client-servicing, product development and staff for pre-analytical work such as specimen collection and transport, courier staff for delivery of reports. Leasing of instruments is becoming favoured option over purchase. Leasing of instrument also includes attractive price for kits and eliminates annual maintenance charge of instruments. Saving is achieved by centralising the equipment required for specialised tests.

It is true that government hospitals are marred by paucity of funds. Financial factor in private labs depend on daily volume of each test. Good management and planning of private labs generates sufficient funds to meet targets and raise service quality.

What is the status of research facilities and programmes in this area?

India has the third largest pool of scientific and technical professionals. The Department of Biotechnology (DBT) and the Indian Council of Medical Research (ICMR) are the major funding source for research. Major programmes have been initiated in the area of functional genomics, human genomic diversity, gene therapy, DNA microarray facilities. Genetic diagnosis cum counseling units have been set up. Hyderabad-based Centre for Cellular and Molecular Biology (CCMB) is working in the identification of genes and proteins that may help identify genetic roots of diseases like cancer.

Under the “Programme on Functional Genomics” implemented at Institute of Genomics and Integrative Biology, genotype based drugs are being researched in collaboration with Geno-Med Programme of Nicholas Piramal.

Programme on functional genomics is also being carried out at Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad. India is the first country to take up the project on “Human Genome Diversity” at Indian Statistical Institute (ISI), Indian Institute of Chemical Biology (IICB) and Saha Institute of Nuclear Physics (SINP), Kolkata. A super computing facility for in silico studies in genomics, proteomics and drug design has been established at Indian Institute of Technology (IIT), New Delhi. Indian and US teams have completed analysis of entire X-Chromosome. Region of X-Chromosome have been linked to mental retardation and numerous other disorders. India ranks third in the world in terms of stem cell research.

Applied research (translational research) has taken a backseat to basic research. How does it impact the treatment?

Basic and applied researches are integral elements of any public health initiative. Through human genome project, we have tremendous information which can be translated to improve the health of the population as a whole with a focus on prevention.

In many countries, predominantly in developed countries, gene therapy, enzyme replacement therapy and stem cell treatment have already been started for some diseases. In India, stem cell banks have also been established in the private sector.

Basic research has developed technologies, which can diagnose cause of the genetic disorder. Even if the treatment is not possible, diagnostic information is also useful for planing of another child. Fertility specialists are using preimplantation genetic diagnosis to test for genetic flaws among embryos used in in-vitro fertilisation. Application of genetics and genomics have enabled agriculturist to grow insect and drought-resistant crops that require little or no pesticide.

But it is also true that basic research is being translated into applied form at a very slow pace. Lack of funding is the main problem. Effective public health policies should be prioritised to promote public research funding.

shardulnautiyal@rediffmail.com