Genetic Diagnosis in India
Prevention is better than Cure
With Science inventing miracles, one of the key game-changer is Genetics. Being in a country like India, clinical and genetic diagnostics has taken a huge leap forward holding the global diagnosis market at fifth place after US, Europe, China and Japan. But how far it has reached the common is a big question now.
In today’s world, curing an ailment is no longer a herculean task. With proper and accurate diagnostics, doctors can do wonders in preventing the ailment or at least manage them better.
“With a population of 1.26 billion and 26 million births every year the burden of genetic diseases is very high. Many diseases can be predicted with great accuracy, prevented if genetic testing is done at the appropriate stage and some of the diseases can be cured or managed better if we know the precise genetic defect,” says the CEO of MedGenome, who are one of the pioneers in the Genetic Diagnostics market in India.
Very recently, a week ago I had a chance to meet the Best clinicians and Research Scientists in the Nation in IIT Madras at the conference on Genetic Disorders – From Mendelian Genetics to Malignancy organized by MedGenome, Bangalore. When asked them about the irony lying in such a huge diagnostics market yet most people often goes untreated and dies due to rare disorders (the rate of prevalence is increasing in India 10 folds due to high birth rate, consanguinity, lack of awareness among the rural populations),“The gap of communication between the clinicians and research scientists and molecular labs is something to be noticed. In today, clinicians are doing a good job in sending patients for genetic testing in combating the condition. But the condition in rural places are not the same as in cities, the affordability and availability along with doctor’s advice is still a concern,” they sighed.
India is one of the best places to study Genome in the world, with so many diverse races, creed, caste and religion. The knowledge and technology available is in no way inferior to other super-nations like USA, UK and Russia. The panellists added, “Currently, worldwide estimated 1000–1300 genetic tests are available for approximately 2500 conditions, both for rare and common. Considering the health priorities, disease prevalence and affordability, molecular/ genetic diagnostic tests pertaining to infectious diseases and cancer are more commonly available and affordable costs.”
With the new DNA sequencing technologies like NGS it has become practically feasible in terms of cost and time to do genetic testing. There are about 9000 well-characterised genetic diseases (Mendelian diseases) and even though individually they are rare, collectively they account for 20 per cent of infant mortality or paediatric hospitalisation in the non-communicable disease segment. Might be this is the reason why the urban population of India suddenly became aware of technologies and medicines. The key focus areas of genetic tests are: diagnostic tests; prenatal, familial and risk assessment.
The question of how far the resource has reached the common is still uncertain, and Dr. B R Lakshmi, MD and Founder of MDCRC explain “Talking from the point of Genetics and my experiences with DMD, the doctors play the vital role in a patient’s life. In the last ten years of my life with Duchene and genetic disorders, doctors need to understand what is been growing in the line to help the patients more expect for the ones who are constantly in touch with the laboratories and researchers who understand what supportive measures could be done to help patients. Considering Duchene, it is generally a Neuro-muscular disorder where patients could land-up with their general physician, neurologist or a orthopaedician just because the kid falls frequently, and based on our observation the usual words of doctors is nothing much could be done about DMD and so please don’t spend money. This is very sad part as the child would have been just 3 or 4 years old. Clinically 50% of the doctors are aware clinically to diagnose that it is Duchene, but what supportive medicines or diagnosis available is not known to 25% of doctors that is really a workup. Getting a genetic diagnosis and what more it is going to add, is again an argument as they fail to realise that knowing the mutation will help in prevention of genetic disorders. Keeping the doctors aware of the latest technologies and their interest in understanding of the condition is very important more in a country like India where the population is huge,” and she adds “With the growth of Information Technology growing so rapid lots of companies wants to help the doctors in terms of various tests and consolidation of data together. But my understanding would be, though yes doctors are aware of genetic tests, not too sure whether the resources available in the country are geared for the knowledge level among the clinicians and the genetic providers.”
In the urban population, congenital malformations and genetic disorders are the third most common cause of mortality in new born and it is high time the latest technologies offered are made affordable. Some of the latest technologies currently in use for genetic testing and diagnostics are Indirect testing ( linkage analysis using SNPs and Short Tandem Repeats/STRs, particularly useful for non-invasive prenatal testing, and pre-implantation genetic diagnosis), allele-specific PCR (one of the most cost-effective and robust methods, it makes throughput of multiple samples feasible and offers high confidence to detect variants), gene -specific Sanger sequencing (for detection of point mutations and small variants), genome-wide SNP microarrays (microarray-based genotyping can be divided into three main applications: array Comparative Genomic Hybridization /array CGH to detect structural anomalies, phenotype-specific SNP panels, and genome-wide SNP panels), and whole genome sequencing/WGS and whole exome sequencing/WES using NGS. The current trend changing technology is NIPT (Non-Invasive Prenatal Testing), MedGenome and Natera, a global leader in non-invasive genetic testing has joined hands in bringing NIPT to India. Natera’s test, known as Panorama, is a non-invasive prenatal screening test that examines fetal DNA in the mother’s blood to assess whether a developing baby is at high risk for having an abnormality in the chromosomes. MedGenome has promised to bring about a change in the way pregnancies are handled in India.
The fruit of research in Genetics could be taken to the masses only through the clinicians. At a national level steps are needed to integrate a much systemic medical standards in India. Today, genetic disorders has grown from mere Rare disorders to a more wide range of healthcare including cancers and personal care, making it available, affordable and safe is in the hands of the both clinicians and researchers.
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