This news might not have aggressively grabbed the headlines when it was released, but the publication of the preliminary findings of the GenomeIndia report marks significant progress in possessing genetic information specific to the Indian population. A massive project that has been several years in the making, and much anticipated, the results are likely to provide some crucial lessons that will inform and guide research, treatment modalities and pharmacology in India. R. Prasad noted the developments in his article: Genome study: 180 million genetic variants found in 9,772 individuals.
The GenomeIndia project genotyped 10,074 healthy and unrelated Indians from 85 populations — 32 tribal and 53 non-tribal populations — across India. Blood samples were collected from about 20,000 individuals, of which DNA samples from 10,074 individuals were subjected to whole genome sequencing. In all, 180 million genetic variants were found when the genomes of 9,772 individuals were sequenced. Of the 180 million, 130 million variants are found in the non-sex chromosomes (22 pairs of autosomes) and 50 million variants are in the sex chromosomes, X and Y. Some of the variants are associated with diseases; some others are rare while some variants are unique to India; and some others are unique to particular communities or small populations.
Further work needs to be done on understanding the meaning and function of these variants, say researchers on the GenomeIndia project. The information on variants associated with specific diseases can be utilised, for instance, to develop low-cost diagnostic kits and for personalised medicine. “In-depth analyses of 9,772 diverse genomes along with the blood biochemistry and anthropometry data will improve disease diagnostics, predict the genetic basis of drug responses, and kickstart precision medicine efforts in India,” the authors wrote in their published article in Nature, last week.
For more details on this very important work, do read this explainer: How will genetic mapping of Indians help? In this context, Binay Panda’s perceptive analysis of the GenomeIndia project, where the argument that population-scale genomics have come of age in India has been advanced, will also come in handy.
Diabetes is hardly out of these columns, not with the kind of implications it has in a vast population in which the number of cases has been steadily rising, even alarmingly so. To take a look at where it all begins, we have Dr. V. Seshiah, Dr. A. Panneerselvam, Dr. Anjalakshi Chandrasekar and Dr. A. Bhavadharani broach the subject of primordial prevention, seeing as it coincides with the theme of this year’s World Health Day: Early screening for gestational diabetes can ensure healthy and happy future for mother and child. Testing the mother earlier than what is being done now, and initiating interventions, would seemingly be the silver bullet to address the issue, the authors posit.
I had an article earlier this week on the new category of diabetes - Type 5 - that came into prominence after a New working group on malnutrition-induced diabetes was formed at the recent World Diabetes Congress. It is estimated that there are about 25 million people with this form of diabetes globally, and attention to studying it could have actually come sooner.
Athira Elssa Johnson turns the focus to children, critiquing the CBSE’s role to aid students with diabetes and calling for more all-round care in schools.
A very important hearing is set to take place in the Supreme Court from May, when judges will listen to pleas over the ₹50 lakh cap on Centre aid for rare diseases. The battle to fund treatment for children with rare diseases tends to take a family uphill, with most drugs out of the affordable range, and access to sources of funding limited. Bindu Shajan Perappadan records the joy in the community of patients with Spinal muscular atrophy who welcomed the development of a generic drug to address their needs. They also, however, made yet another call for government intervention to ensure access to all patients needing such care.
Not a week passes by without articles on AI deployment clamouring for space in the health space. Here, Narinder Kumar, Varadurga Bhat and Ranjini C.R. examine it in the context of The breast cancer crisis in India. The authors argue that a holistic approach—strengthening grassroots healthcare, raising awareness, and integrating AI screening—can be transformative in reducing India’s breast cancer burden, enhancing the overall quality of cancer care and saving countless lives.
Even as AI picks up acceptance and use, widely, it’s important to be cognisant of what Dr. C. Aravinda warns us of in this article: Why AI in healthcare needs stringent safety protocols. Bidding us be on the look out for ‘data poisoning’ that can skew results and readings, he adds that it could be damning when dealing with human health.
If AI is the future, well, telemedicine might be a poor cousin, but still very relevant in places like India, with vast geographies and uneven access to health care. Serena Josephine M. explains how tweaking it a bit has led to good results in a field setting: Telemedicine guidance on WhatsApp helps govt. doctors bridge cardiac care gaps in Tamil Nadu.
The summer heat’s onslaught continues relentless in the subcontinent, and a searing heatwave swept through many states of central and western India on Tuesday, April 8, with temperatures soaring to a scorching 46.4 degrees Celsius in Rajasthan’s Barmer. The bad news is that it is by no means over. As April slips into May the heat is only going to get more extreme in more places than ever.
Did you know that it is difficult to source blood (voluntary donation) during summer - the heat and vacations play spoilsport. Experts advise that Ensuring consistent, year-round blood donation can help overcome seasonal fluctuations, resolve supply challenges in India. In this context, do check out Zubeda Hamid’s Quiz: On dehydration and heat strokes so you can be prepared and avoid heat-related conditions.
Progress dominates the medical research field and there are frenetic developments, nearly every day. Some of them impact us immediately, and some, perhaps in the future. Siddharth Kumar Singh says it’s time to heed the New fitness metric may predict heart disease risk better than steps or heart rate.
In other news, Scientists at Raman Research Institute develop affordable device for preliminary screening of sickle cell disease. Read about the Indigenous TB test that can enhance accuracy, speed up testing.
Biocon’s arm Biocon Biologics receives U.S. FDA approval for Jobevne, which is used for cancer treatment. Also, hospital administrators, please note: the CDSCO upgrades its online registration system for medical devices.
Dr. Karun Sathveeg Sam and Dr. Parth Sharma outline why it is important to inculcate the spirit of research and enquiry at the early stages of a medical education in this piece: The mandatory thesis submission in medical postgraduate education is a futile exercise. Our leaders in the medical education sector will do well to heed their advice.
Here is something we cannot ignore: a development that has implications for the whole world, and the way the next pandemic will be handled: WHO pandemic agreement talks face deadline crunch. After 13 rounds of discussions, countries have been meeting at the WHO headquarters in Geneva to iron out remaining problems. The aim is to have a text ready for final approval during the WHO’s annual assembly next month.
For the tailpiece section this week, we go back and dig deep to understand a modern-day fascination - the love for skin lightening and fairness. Dr. Monisha Madhumita takes an anthropological view to explain what drives this urge and why it may be harmful to us. Across much of the world, and particularly in India, skin colour remains quietly powerful — shaping ideas of beauty, respectability, and even social mobility. In this environment, the desire for lighter skin has fuelled a booming market of creams and combinations, many of which are not only ineffective, but actively harmful. But understanding this trend — and challenging it — requires more than dermatological guidance. It calls for an interdisciplinary approach, one that draws on anthropology to trace the cultural roots of colourism, and on dermatology to address its consequences.
Explainers have become staples of news organisations, and incidentally, they have also come to define where the faith of the readers lies. This week, we have a bunch that will enlighten you:
In the All you need to know about series, here is one on eating disorders.
R. Sujatha gives you an overview of Tamil Nadu’s strategies for elimination As malaria cases fall.
If the quack ‘Dr. Camm’ story had our eyebrows raised last week, Dr. J. Amalorpavanathan’s piece detailing the need for robust credentialing in healthcare is a relevant follow up.
Dr. Abraham Peedicayil, Dr. Akilasree P.B., Dr. Jeyasheela Kamaraj talk about Understanding the causes behind, and treatment for, abnormal uterine bleeding.
Dr. Mammen Chandy delves into thalassemia: What is the extent of the thalassemia burden in India and how can it be managed?
Chirantan Chatterjee provides an overview: The pandemic — looking back, looking forward
Dr. Hemamala Ilango on the occasion of World Liver Day: Nourish your liver, enrich your life: Simple ways to keep your liver in good shape
If you have a few extra moments, also read the following stories:
Vijaita Singh Registrar General of India cautions hospitals over delay in reporting events of birth, death
K. Madan Gopal, Sanjay Pandey When Parkinson’s strikes early
India’s MMR comparison to Nigeria unfair, says Health Ministry
Union Minister J.P. Nadda launches ‘Inter-AIIMS Referral Portal’ for seamless patient care
Palliative care training programme for healthcare professionals in 14 States launched
Science Quiz: On health inventions and discoveries
Study on women relates poor oral health with chronic pain
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Published - April 15, 2025 03:18 pm IST
