Why Newborn Screening is the Need of the Hour

Dr Rohit Cariappa: In the newborn screening set of disorders, which is a very well thought out set of disorders, and they are all treatable. If diagnosed early from the dried blood specimen, we’re able to screen for these disorders, then the treatment is available. Diagnosis, further testing is available to say, yes the baby has it. And then treatment starts early, avoiding all the bad outcomes like mental retardation especially. So that’s something that very quickly educated parents understand that this is almost like a vaccination. It’s a must do for a newborn baby. So many governments have realised that you have to do this. It’s a baby’s birthright almost to have newborn screening done just like a vaccination. The test is relatively cheap. It is three to six thousand rupees I think to do multiple panels. It covers 60+ disorders. It covers some abnormalities and some metabolic disorders and any one of these if caught early, offers the parent a very good outcome and so a good outcome for the baby. So you bypass the deadly retardation, physical handicap and so these children will have normal lives with appropriate nutrition, a treatment that is a part of the program, the newborn screening program. So we provide the very first step that is screening. So I think, what inspired us was seeing American kids at age 23, 20 playing football, getting married and the same kids in the age 3 or 4 are mentally retarded completely and handicapped in their families, not necessarily but in some cases and their quality of life is very poor in India. However, these American kids were leading completely different lives. So we just said, is it colour of skin that matters? And it’s not. It’s the test being offered in India. So that was the main driver for Thomas and me to come back to India and I think there is a lot of passion in our company, for all of us to do this test. People who work with us understand that there is very low attrition, we really feel we are contributing to the betterment of society and are helping those parents who might have otherwise suffered by having an almost healthy child with a normally functioning brain. That’s the most important part. Because the metabolite that is toxic to brain development is removed in the diet and the kids develop normally. And what’s nice to see is that the specialists in nutrition, metabolic specialists etc., are all coming to the front and supporting us, supporting themselves in terms of making this a more equitable society for all strata, to all levels of disease. So I think in the West, they have conquered stuff like infection, common diseases due to mosquitoes and other infectious kinds of stuff, but in India, that’s still taking time. Things like cholera and malnutrition are still prevalent and until we conquer those, there’s not much scope for newborn screening, a more specialised test to be universally programmed. However the corporate sector, the private sector is ready for this and it’s included in the birthing packages in many places for the benefit of the customer. So I think in 10 to 15 years, India will have a universal screening of some type at least for the thyroid which is like the model disease for metabolic screening. It’s very cheap to do the test, the screening test, very cheap confirm the diagnosis and very cheap to treat those babies and the outcome is very dramatic. The kids suffer a lot very quickly when you have thyroid issues. So beggars can afford to treat their children. There is no reason for a kid in India to suffer from Congenital Hypothyroidism and congenital means it’s a state from birth. The thyroid is absent or malfunctioning that is producing a small amount of hormone that is absolutely necessary for mental and physical development. If that’s not been produced, every week the baby will just shed IQ points. So that’s the driving force for newborn screening. And along with that, you piggyback a set of easily treatable disorders like Galactosemia, Congenital Adrenal Hyperplasia (CAH), Biotinidase deficiency, G6PD deficiency and CH, of course, Congenital Hypothyroidism. These are five, to six disorders if you include Cystic Fibrosis which is not that prevalent but can be added to the dried blood spot are the basic panel of tests. And then on top of that, there’s something called Tandem Mass Spectrometry (TMS), a very powerful technique. From one drop of blood, it analyses about 45 plus disorders. And now you have a package of newborn screening disorders that will really benefit the baby. On top of that if you add haemoglobinopathies like sickle cell anaemia and some other structural abnormalities of haemoglobin. So this is a one-stop package, this is a full panel test for a newborn. I think every newborn needs to do it.

Author

Suchitha Champak

Personal Site

I am the Founder and Managing Editor of SciRio, a digital ecosystem for science communicators who want to communicate science to people who are non-experts in any fields of science. After stints as a Research Associate at the Indian Institute of Science and Centre for Human Genetics working on Cancer Research and Developmental Biology, I shifted gears to communicating science and become an entrepreneur.

I established SciRio to support science communicators in networking better, finding appropriate training and resources, and ultimately provide unexplored opportunities to science communicators.