India shares a huge burden of genetic and rare diseases across the world. As per the Organization of Rare diseases in India (ORDI), 1 in 20 Indians is affected by a rare disorder. Statistics show more than 7,000 rare diseases are known and reported worldwide; from these approximately 80 per cent are known to have a genetic predisposition. In the recent years, genetic tests, one of the tools to detect and manage such diseases along with other ailments is gaining popularity in the country. These tests are mainly into oncology, reproductive health, predictive and pre-symptomatic testing and ancestry and they are usually done to confirm or rule out a suspected genetic condition and the probability of the development of a genetic disorder or the same being passed on to the next generation.
According to a study report by Market Research Future (MRFR), the global genetic testing market is set to reach a compounded annual growth rate (CAGR) of 11.50 per cent, worth over $22,800 million between 2019-2024. Of this, the prescribed genetic testing segment is expected to be over $21,600 million by the end of 2024. Interestingly, these tests which used to cost above Rs. 2 lakhs with results being procured from abroad, are priced around Rs 3,000 to Rs 60-70,000 per test.
One such test is Noninvasive prenatal testing (NIPT) which is done to determine the risk that the fetus will be born with certain genetic abnormalities. Financial Express.com reached out Dr. Kirti Chadha, Chief Scientific Officer, Metropolis Healthcare Ltd. and she highlighted the importance of such tests, scope of genomics in India, genetic abnormalities among others. Excerpts:
What is Noninvasive prenatal testing (NIPT)? Why is it conducted?
Non-Invasive Prenatal Testing (NIPT) test analyses small fragments of fetal DNA, called cell-free DNA, that are circulating in a pregnant woman’s blood with the goal of determining the risk that the fetus has certain genetic abnormalities. When used appropriately, these tests offer a non-invasive approach for prenatal testing and may provide useful information to assess the risk that a fetus has (or does not have) a genetic abnormality. Worldwide, the estimated incidence of Down Syndrome is between 1 in 1,000 to 1 in 1,100 live births. In India alone, it occurs in approximately 1 out of 830 live births, as per the Down Syndrome Federation of India. Maternal first and second trimester screening helps diagnose this condition and other chromosomal disorders early in pregnancy. Therefore, this needs timely, cost-effective, and accurate intervention. Metropolis NextGen NIPT- Non-Invasive Prenatal Screening test is a more advanced method for prenatal screening that uses circulating DNA from maternal blood and advanced genomics platforms of Next Generation Sequencing (NGS) combined with bioinformatics algorithms to predict the risk of chromosomal disorders such as Down’s syndrome (T21), Edward Syndrome (T18), Patau Syndrome (T13), Turner’s syndrome (Monosomy X) etc., more accurately than traditional maternal biomarker screening tests.
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What are the common genetic abnormalities that you come across in foetuses? According to you, what are the possible reasons for such abnormalities?
Genetic disorder occurs when one gene causes a disease. Major examples may include – Cystic fibrosis, Sickle cell anaemia, Tay-Sachs disease, Haemophilia and Marfan syndrome. It is also significant to know that some birth defects, development delays, and/or illness can be caused due to prenatal exposure to drugs, alcohol, or other lifestyle factors. Other factors that may contributes to the risk of having a baby with genetic disorder are as follows:
- Family history of genetic disorder
- Prior child with a genetic disorder
- One parent may have chromosomal abnormality
- Advanced maternal age (35years or older)
- Advanced paternal age (45 years or above)
- Multiple miscarriages
What are the specific disorders that can be identified through this test? What happens after an abnormality is detected?
The NIPT analyses the genetic information contained in the DNA to identify the chromosomal disorders such as Down’s syndrome (T21), Edward Syndrome (T18), Patau Syndrome (T13), Turner’s syndrome (Monosomy X) etcetera. It takes up to 7 to 10 days for the NIPT results. If the result is positive, it means the baby is likely to be affected by a certain abnormality. After this you are referred to a specialist doctor and genetic counsellor for further course of action.
According to you, what is the status and challenges of genetic testing in India?
Genomics hold great potential to improvise the healthcare strategies across various dimensions- be it disease prevention, advance diagnosis or optimise treatments. The biggest hurdle in India is the lack of awareness. Other constraints are availability, accessibility and affordability.
What makes NIPT better than other modes of genetic testing for fetuses?
The NIPT is the safest and secure procedure than any other mode of testing which makes it a more reliable option for the expecting parents. The procedure involves only a quick blood draw with the syringe, then the sample goes for the lab testing, where a physician examines the DNA for any signs of abnormalities.
- Reduces the need for mothers to go through invasive testing for significant cohort
- It assures higher detection rate of 99 % for any risk of abnormality
- Results are delivered in 7-10 days after the sample collected
- Genetic counselling leads to understanding the results and options better
There are some cases in which NIPT results indicate an increased risk for a genetic abnormality when the fetus is actually unaffected (false positive), or the results indicate a decreased risk for a genetic abnormality when the fetus is actually affected (false negative). Why does this happen and what steps are taken in such instances?
NIPT is a screening test, hence the result is not the final confirmation of the baby being affected with a genetic disorder. The results of a NIPT screening can help families and doctor decide the next steps, including the need for further testing and other critical decisions.
Due to advancements in technology and research we now have simpler tests for complex ailments. How COVID-19 pandemic contribute to this and what can we expect in the coming years?
The recent outbreak of COVID-19 led people to be more conscious towards their health. Hence, it resulted in more demand in the testing space. People made online appointments for specific tests to diagnose the disease & get adequate treatments at the earliest. Due to the nature of the pandemic, the majority of the people did partake in self testing at their home. The pandemic had brought immense suffering, however, it simultaneously accelerated the adoption of new technologies and ways to help patients in diagnosing the virus and make an informed decision.
Blood-drawn tests for complex disorders are getting more and more common. How does this work and how reliable are they?
Very reliable if done from a trusted , accredited and well-known laboratories by team of diagnostic experts offering insights which can be trusted for making informed choices.
There has been a paradigm shift in the diagnostic segment in India in recent years. How is it different from the past trends and what are your expectations in the coming years?
Diagnostic chains have grown rapidly with the emergence of pan-India players. They have been able to maintain this rapid growth rate by opening more collection centres, increasing test catalogue, building digital journey for the consumers and clients. The healthcare industry is rapidly moving from traditional to smart and digitised diagnostic space. Disruptive technologies have made an excellent mark in the diagnostic approach. We are expecting more technological advancements and more awareness in the coming years as artificial intelligence and molecular genomics pave the way from routine to specialised testing across clinical specialties and patient populations.
What is India’s current position in focused molecular genomics diagnostics? What more needs to be done in this segment to improve patient care in the country?
Genomics has been significant in detecting the COVID-19 virus initially and then new variants & mutants. Further, it becomes an integral process for developing treatments and vaccines. Molecular genomics is driving some of the most breakthrough research in the field of medical science globally, its full potential is yet to be realised in the country, especially Tier II and III cities. Molecular genomics testing is reaching a point of being able to detect the genetic variation in patients at a high level of accuracy and reduced cost, keeping up to our commitment.
Anything else that you would like to add?
The COVID-19 pandemic has naturally shaken the foundations of global and Indian healthcare system as it has scrutinized even the most advanced healthcare systems around the world. Amid mounting bumps, India’s healthcare system was able to withstand the pandemic. India’s various efforts in the manufacturing of medical equipment, disposables, drugs, and vaccines have established India as a leading nation. India not only managed to meet domestic needs, but also rose to the challenge and helped other countries. It is certain that no matter the disease or technology Indian medical geniuses will continue to contribute significantly advanced and affordable diagnostics.
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