Latest news with #Next-GenerationSequencing
News18
16-07-2025
- Health
- News18
Why That Persistent Fever This Monsoon Might Not Be What You Think
This monsoon, that lingering fever might not be 'just the rain.' As the monsoon sweeps across India, it brings with it the yearly surge of seasonal illnesses. What begins as a mild fever or body ache is often dismissed as 'just the weather," but these symptoms could signal something more serious, vector-borne infections like dengue, chikungunya, malaria, or even scrub typhus and leptospirosis. With symptoms that blur together, fever, fatigue, chills, joint pain, these infections are frequently misread, misdiagnosed, or simply ignored. The common tendency to wait it out or rely on home remedies and over-the-counter medication can delay treatment, an oversight that, in the case of monsoon fevers, may prove dangerous. Dr. Mahua Kapoor Dasgupta, Director – Medical Affairs (Infectious Diseases), HaystackAnalytics shares all you need to know: The Overlap That Masks the Risk Tropical fevers like dengue, chikungunya, typhoid, malaria, leptospirosis, Japanese encephalitis, scrub typhus, and enteric fevers often present with overlapping symptoms, making diagnosis difficult even for experienced clinicians. Many of these diseases are endemic to India and spike during and after the monsoon months of June to October. In 2024 alone, India reported over 2.3 lakh cases of dengue and more than 2.6 lakh suspected and confirmed cases of chikungunya. While global malaria numbers are declining, India still accounted for nearly 66% of cases in the Southeast Asia region in 2022. Despite such high numbers, many infections remain undiagnosed or misdiagnosed due to their non-specific presentation. Why Timely Diagnosis Matters Empirical treatment—starting medication without identifying the specific pathogen—remains a common practice. However, this approach can be harmful. For instance, using antibiotics for viral infections contributes to antimicrobial resistance (AMR), a growing global crisis that makes future infections harder to treat. A Smarter Way Forward How do we avoid the risks of delayed treatment and misdiagnosis? The answer lies in timely, accurate diagnostics. Traditional methods like culture, serology, or PCR have limitations in terms of comprehensiveness, early detection, and specificity. This is where advanced technology like Next-Generation Sequencing (NGS) makes a critical difference. NGS can detect multiple bacterial, viral, parasitic, and fungal pathogens in a single test, directly from a blood sample—successfully overcoming the limitations of conventional methods. NGS enables clinicians to identify the exact pathogen within 24 hours, even in cases where the infection is hard to diagnose. It provides a comprehensive pathogen profile from a single sample, saving both time and resources. For example, if a patient presents with fever, chills, and fatigue, NGS can distinguish between dengue, malaria, brucellosis, and other illnesses with similar symptoms. This precision ensures that the correct treatment is started promptly, avoiding the guesswork often seen in viral fever cases. The Takeaway This monsoon, that lingering fever might not be 'just the rain." With rising cases of tropical fevers and co-infections, ignoring early symptoms or relying on guesswork could delay care and lead to serious complications. Advanced diagnostic tools like NGS are providing both patients and doctors the clarity they need quickly and accurately. As seasonal fevers grow more unpredictable, embracing timely, precise diagnostics isn't just smart medicine it's essential. view comments First Published: July 15, 2025, 15:59 IST Disclaimer: Comments reflect users' views, not News18's. Please keep discussions respectful and constructive. Abusive, defamatory, or illegal comments will be removed. News18 may disable any comment at its discretion. By posting, you agree to our Terms of Use and Privacy Policy.
New Straits Times
04-07-2025
- Health
- New Straits Times
#HEALTH: Personalised cancer care brings hope
TRADITIONAL cancer treatment often takes a one-size-fits-all approach, with chemotherapy or radiotherapy delivered according to cancer type and stage. However, not every tumour behaves in the same way, even within the same type or stage. This is where precision medicine plays a role. It tailors cancer treatment to each individual's genetic makeup, rather than applying the same treatment across the board. By understanding the mutations that drive a patient's cancer, we can choose therapies that specifically target those mutations, resulting in better outcomes and fewer side effects, says Subang Jaya Medical Centre (SJMC) consultant pathologist Professor Dr Pathmanathan Rajadurai. This helps doctors treat cancer more precisely, giving patients real hope for a better outcome. At the heart of this approach is a technology called Next-Generation Sequencing (NGS), a powerful genomic tool that can rapidly analyse tumour DNA. It enables oncologists to pinpoint genetic alterations that fuel cancer growth, helping them select treatments with surgical precision. Today, genomic profiling is helping shape everything from early detection to personalised treatment planning and follow-up care. "In the past, we relied on a series of tests that took time and may not have yielded a clear direction. Today, one genomic test can offer actionable insights, helping doctors to act quickly and more effectively," says Dr Pathmanathan. A study conducted by Dr Pathmanathan and his team, titled 'Mutation Profiling of Lung Adenocarcinoma Using Targeted Next-Generation Sequencing: A Malaysian Perspective', revealed a significantly higher prevalence of Epidermal Growth Factor Receptor (EGFR) mutations among Malaysian lung cancer mutations respond well to targeted therapies known as tyrosine kinase inhibitors (TKIs) — drugs that target specific proteins involved in cancer cell growth. They also found a rise in KRAS G12C mutations, often linked to smoking, which are now treatable with new precision drugs. Additionally, the team observed more cases of ALK and ROS1 gene rearrangements, genetic changes that can also be matched with specific targeted therapies designed to slow or stop tumour growth. These findings are consistent with international research, including a study published in the 'Journal of Thoracic Oncology', which similarly reported higher rates of EGFR and ALK mutations among Malaysian lung cancer patients compared with Western populations. Dr Pathmanathan says this highlights the importance of using local genomic data to guide treatment decisions. The published data is pivotal as it provides local insights to help clinicians identify the most effective therapies for Malaysian patients. It also supports early detection efforts.
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Business Standard
28-05-2025
- Health
- Business Standard
Could gene therapy end thalassemia? China's breakthrough sparks hope
Can a single shot rewrite a child's genetic fate? In a groundbreaking trial, doctors in China have used gene therapy to successfully treat children with thalassemia, a life-threatening inherited blood disorder that has long burdened families with frequent transfusions and lifelong medical care. As reported by media reports, one-time treatment using gene-edited stem cells has enabled multiple children to live transfusion-free for over a year. The promise is immense as it might offer a potential cure for a disease that affects millions across the globe. What is thalassemia and how does it impact the body? According to the Cleveland Clinic, an American nonprofit academic medical center based in Cleveland, Ohio, thalassemia is a genetic blood disorder that affects the body's ability to produce healthy haemoglobin, the oxygen-carrying component of red blood cells. This results in chronic anemia, fatigue, developmental delays, bone deformities, and in severe cases, life-threatening complications. US Centers for Disease Control and Prevention (CDC) classifies Thalassemia based on which part of the haemoglobin molecule is affected, alpha or beta, and the severity of the condition, described as trait, intermedia, or major. Thalassemia types are classified based on which part of the hemoglobin molecule is affected—alpha or beta—and the severity of the condition, described as trait, intermedia, or major. Hemoglobin, responsible for carrying oxygen throughout the body, consists of alpha and beta protein chains. When the body can't produce enough of either, it leads to alpha or beta thalassemia, resulting in reduced hemoglobin levels and varying degrees of anemia. According to severity: How common is thalassemia in India and how is it diagnosed? According to a new study by Metropolis Healthcare, an Indian multinational diagnostic, more than 1 in 4 Indian children clinically suspected of inherited blood disorders found positive. The study highlighted that over 51 per cent of affected children were under age 3, reinforcing the urgent need for prenatal and early childhood screening. 'Our findings reveal an urgent public health concern. Early detection through prenatal and newborn screening can dramatically alter disease outcomes,' said Dr Smita Sudke, Chief of Laboratory, Metropolis Healthcare. Advanced molecular techniques like Next-Generation Sequencing (NGS), Gap-PCR, and Sanger sequencing now make it possible to detect mutations with high precision, even before symptoms appear. 'NGS is a game-changer for identifying rare and novel mutations. It helps decode unexplained symptoms and enables early, even pre-symptomatic, diagnosis,' said Dr Kirti Chadha, Chief Scientific and Innovation Officer, Metropolis Healthcare. Metropolis' earlier study of 65,779 cases across revealed how modern DNA sequencing is improving diagnosis and disease classification, especially for beta-thalassemia. Why premarital and prenatal screening matter in thalassemia Despite the high burden, premarital screening remains rare in India due to social stigma. However, antenatal testing is gaining ground in high-risk groups. Doctors stress the importance of screening both partners before pregnancy. If both are carriers, there's a 25 per cent chance of the child having thalassemia major, a severe, lifelong condition. How is thalassemia treated in India today? Standard treatment in India includes: Regular blood transfusions Iron chelation therapy to remove excess iron Bone marrow transplant (BMT): A potential cure if a matched donor is available Gene therapy: Experimental in India, but now a realistic hope According to Dr Rahul Bhargava, Principal Director & Chief of BMT at Fortis Memorial Research Institute, 'A matched bone marrow transplant offers a curative option. But gene therapy could transform how we approach thalassemia treatment in the future.' What is the cost burden of thalassemia care in India? Annual cost of treatment ranges between ₹1.5–4 lakhs for transfusions and medications Bone Marrow Transplant costs ₹10–25 lakhs (some public hospitals subsidise) Gene therapy is currently unavailable in India and is expected to be expensive initially Can thalassemia be prevented through screening and awareness? According to experts, yes, prevention is possible through: Carrier screening Prenatal testing Genetic counseling Dr Sudke adds, 'We must integrate genetic screening into routine maternal and child health programs. It's the most effective way to reduce the future burden.' What does the gene therapy success in China mean for India?
New Indian Express
28-05-2025
- Health
- New Indian Express
TN to set up centres of excellence for genetic disorder prevention in Coimbatore, Madurai
COIMBATORE: The state health department with the support of National Health Mission (NHM) is preparing to launch Centers of Excellence for the prevention and management of genetic disorders in Coimbatore and Madurai, following the footsteps of Chennai. These centers aim to facilitate genetic research and laboratory tests for conditions such as inborn errors of metabolism and immune deficiencies. Construction of the buildings and procurement of high-value machinery are currently underway, said officials and added that 50% of the work has been completed. Recognising that genetic disorders are a major cause of Infant Mortality Rate (IMR) and Under-Five Mortality Rate (U5MR), the state government has allocated Rs 8.19 crore to establish two new Centres of Excellence in Coimbatore and Madurai, said officials. "The center is already operational at the Institute of Child Health and Hospital for Children (ICH) in Chennai. Efforts to launch similar centers at government medical college hospitals in Coimbatore and Madurai are in progress," said Expert Advisor for Child Health, National Health Mission, Tamil Nadu S Srinivasan. The centers will specialise in a variety of genetic disorders, including hemoglobinopathies like thalassemia and sickle cell anemia, chromosomal disorders, spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), other neuromuscular disorders, lysosomal storage diseases (LSD), mucopolysaccharidosis (MPS), congenital adrenal hyperplasia, congenital hypothyroidism, glucose-6-phosphate dehydrogenase (G-6PD) deficiency, and cystic fibrosis, as outlined in the government order. "We have acquired expensive machinery such as Tandem Mass Spectrometry (TMS) and Next-Generation Sequencing (NGS) for genetic testing, among other equipments, at the ICH in Chennai. With this laboratory, we can screen patients with genetic disorders, diagnose their conditions, and explore potential solutions. For example, inborn errors of metabolism (IEM) are rare genetic conditions that impair the body's ability to convert food into energy due to enzyme defects. Using TMS, we can screen and diagnose IEMs," Dr Srinivasan added.
India Today
22-05-2025
- Health
- India Today
India's hidden health crisis: Genetic blood disorders plague children under 12
India is facing a hidden health crisis among children: the alarming rate of inherited blood data from Metropolis Healthcare, a diagnostic laboratory chain, has found that more than 1 in 4 children from 0 to 12 suspected of having a blood disorder were found to carry inherited haemoglobin findings are based on a three-year study conducted between 2021 and The study screened nearly 20,000 children who showed signs of haemoglobinopathies, a group of inherited conditions that affect red blood cells and can lead to chronic anaemia, fatigue, delayed growth, and vulnerability to 28.4% of these children tested positive for a haemoglobin disorder, raising serious questions about the reach and effectiveness of India's paediatric and maternal health two most common conditions identified were beta-thalassaemia trait (38.7%) and sickle cell disease (30%). Thalassemia. Beta-thalassaemia affects the body's ability to produce enough red blood cells, while sickle cell disease alters the shape of red blood cells, often causing severe pain, frequent infections, and life-threatening more concerning is that over half of the affected children were below the age of three, thus, highlighting the desperate need for early screening and preventive interventions."Our findings reveal an urgent public health concern. Early detection through prenatal and newborn screening can dramatically alter disease outcomes," said ,' said Dr. Smita Sudke, Chief of Laboratory, Pune & Rest of Maharashtra at Metropolis and lead author of the DISPARITY AND GENETIC RED FLAGSThe data also reveal regional differences in the spread of these disorders, suggesting that blanket screening policies may not be Northeast had the highest positivity rate at 48.44%, largely due to a high prevalence of Haemoglobin E (HbE). The data also reveal regional differences in the spread of these disorders, suggesting that blanket screening policies may not be enough. Central India saw sickle cell disease dominate, with a positivity rate of 37.36%.Southern states recorded a 34.09% prevalence of various Western and Northern India showed widespread cases of beta-thalassaemia data, say experts, make a compelling case for region-specific screening protocols and stronger integration of genetic testing into routine healthcare services, especially for expectant mothers and young TESTING IS A GAME-CHANGERBeyond identifying the burden, the study highlights the role of molecular diagnostics in catching what traditional tests often such as Next-Generation Sequencing (NGS), Sanger sequencing, and Gap-PCR are transforming how India can detect, diagnose, and manage inherited blood disorders. Beyond identifying the burden, the study highlights the role of molecular diagnostics in catching what traditional tests often miss. () "NGS can look deeply into genes like HBB, HBA1, and HBA2 to detect even the smallest or rarest mutations. This allows for early intervention, even before symptoms show up, and helps guide families in reproductive planning and disease management," explained Dr. Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis earlier nationwide study by Metropolis, involving over 65,000 individuals, also underlined how genetic sequencing can detect both common and rare mutations in haemoglobin genes, essential knowledge in a country where carrier status often goes undiagnosed until it's too FOR PUBLIC AWARENESSIndia is home to nearly 25% of the world's thalassaemia burden. Despite this, genetic testing remains largely out of reach for many, and awareness of these disorders is low, especially in rural experts are calling for national-level policy changes, including:Prenatal and newborn screening programsMandatory genetic counsellingAffordable access to molecular testing, especially in high-prevalence zonesThe message is clear: without early detection and proactive screening, thousands of children will continue to suffer the life-altering effects of preventable genetic India grapples with a rising non-communicable disease burden, inherited blood disorders must not remain in the shadows.
