Newborn Screening in India: An overview on challenges and opportunities to improve public health

Diwakar Sharma, General Manager, Life Sciences & Diagnostics Systems – Sales, India & South Asia of PerkinElmer India Pvt. Ltd., talks to Express Healthcare about company’s vision to build a positive environment around Newborn Screening (NBS), associated technology and its importance in improving healthcare in India

What is Newborn Screening (NBS), and why is it the need of the hour in India?

NBS is a form of preventive health care in which babies are tested within the first days of their life to discover evidence of diseases for which the main symptoms may not yet be apparent. Screened conditions are varied; they may be genetic, endocrinologic, metabolic or hematologic.

Unlike treatment-based health care processes, newborn screening is population-based.

With more than 29 million pregnancies and birth rates amounting to as high as 25+ million annually, it is essential that the central and state governments act proactively to take stringent initiatives for NBS to be a part of the national program. This would encourage and advance the screening to help identify the affected babies.

Inborn Errors of Metabolism (IEMs) comprise approximately 15 per cent of total admissions in Neonatal Intensive Care Units (NICUs) annually. If undiagnosed and untreated, these children are more likely to develop mental retardation, learning disabilities, autism, dyslexia or behavioral abnormalities that cause a considerable financial and emotional burden on the families hoping to diagnose, treat, and manage these children.

NBS is a process where newborns receive a simple blood test from the heel prick 48 hours after birth, which can aid in detecting up to 70 potentially life-threatening disorders. Babies screened for IEMs can benefit from early detection through timely management, diet modification and/or early therapy. Thus, there is great value in creating a structured program for NBS in India.

What are the latest trends in newborn screening across the world? And where does India stand on the global map in the sphere of NBS?

We have seen that newborn screening has been adopted as a valuable public health program in certain countries worldwide. Emerging economies have started successfully addressing commonly known challenges in child health, like infections, malnutrition, and diarrhea; they are now looking at newborn screening to further improve neonatal and infant mortality rates. We are seeing countries such as Sri Lanka, the Philippines, Maldives and China adopt newborn screening. The Philippines integrated NBS into their public health delivery system in 2004, enacting the Newborn Screening Act that mandated universal screening of five disorders for all newborns in the country. Today, PhilHealth provides 100 per cent reimbursement for an expanded panel that covers 90 per cent of babies born in the country and includes 29 disorders.

Sri Lanka has also enacted a national program to screen for congenital hypothyroidism. Similarly, Bangladesh is currently running a pilot program for the same disorder that will soon be upgraded to the national program. The Maldives is screening five conditions for all newborns in the country. The United States and Western Europe have more established NBS programs. They have further extended the umbrella of NBS programs with the addition of newer disorders, including lysosomal storage disorders (LSD), severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA). Moreover, testing is being upgraded from biochemical to gene-based tests.

India has made significant developments in the identification of newborn disorders. At the country level, India has already been credited with implementing a screening program called Rashtriya Bal Swasthya Karyakram (RBSK) – which primarily emphasises congenital physical disabilities. The program aims to train physicians to identify physical malformations and recommend optional screening for disorders like Congenital Adrenal Hypothyroidism (CAH). The next natural phase would be to implement biochemical testing for IEMs through the heel-prick method. Understanding the nature of the two types of disorders is essential – physical congenital disabilities and IEMs.

We have many states and institutions within India that have taken valuable initiatives for implementing newborn screening programs through the generous support of central & state governments and other organisations.

I am happy to see that institutes viz MAMC New Delhi, AIIMS New Delhi, PGIMER Chandigarh, Safdarjung Hospital, Delhi, AIIMS Bhopal, Vani Vilas Hospital, Bangalore, SGPGI Lucknow, JK Lone Hospital, Jaipur, to name a few and many states examples – New Delhi, Chandigarh, Kerala, Goa and Maharashtra are carrying out state newborn screening programs. Indian Council of Medical Research (ICMR) has funded several multicenter studies over the past decades, and according to ICMR Task Force, it would be beneficial to consider screening universally for congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) as both contribute significantly to morbidity and mortality of children. Also, glucose-6- phosphate dehydrogenase deficiency should be considered due to the high incidence and ease of treatment.

Many private laboratories prioritise newborn screening and build infrastructure for even extended rare disorder screening like Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). Overall, the future of newborn screening looks bright, and we look forward to continuing to work in this direction.

How do you look to establish PerkinElmer in India over the next few years regarding challenges and expectations?

PerkinElmer has been improving global human and environmental health for over 75 years. In India, PerkinElmer caters to a wide range of markets, viz. analytical science, food safety, Life Sciences, and diagnostics. However, although we have a significant presence across the sectors in the country, we still see that a nation-level newborn screening program policy is required; a lack of awareness around newborn screening in major cities across the country is a significant roadblock.

PerkinElmer provides complete end-to-end innovative solutions for newborn screening, including sample collection cards, instruments and reagents for testing, reporting software and many more technologically advanced devices and equipment to empower pediatricians and hospital staff to deliver positive patient health outcomes. In addition, the shortage of trained technicians is a challenge in India.

To help solve that problem, PerkinElmer is continuing to invest in India for the long- term with dedicated efforts and resources for talent development. Overall, we are upbeat about our growth and increased penetration in the Indian market.

What are some recent company developments that stand out in Newborn screening?

For many of today’s newborn babies screening for disorders is a standard procedure. Yet it’s a process that has the power to improve health outcomes in later life vastly. At PerkinElmer, we’re here to help to make sure the process of screening in the laboratory runs smoothly and precisely. We have screening solutions covering all stages of newborn screening, from sampling to equipment, from testing reagents to software, no matter the size or sophistication of your lab.

PerkinElmer has offered maternal fetal health and newborn screening solutions in India since 2004. Our cutting- edge diagnostic solutions include a wide range of instruments, reagents, assay platforms and software offerings that enable newborn screening for disorders like Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), Phenylketonuria (PKU), Biotinidase deficiency (BTD), Galactosemia, G6PD deficiency, Cystic Fibrosis (IRT) Duchenne Muscular Dystrophy (DMD), Severe Combined Immunodeficiency (SCID), Spinal Muscular Atrophy (SMA) as well as several IEMs and Lysosomal Storage Disorders (LSDs).

PerkinElmer currently offers semi-automated and automated platforms, including the Victor 2TMD, AutoDELFIA® and GSP® for newborn screening applications. Our product range also comprises advanced tandem mass spectrometry- based solutions (such as the QSight® 225 MD UHPLC System) for expanded screening of various IEMs, systems for hemoglobinopathies like the Migele™ Gel Electrophoresis Unit, and the EONISTM for SMA, SCID and XLA screening.

Furthermore, PerkinElmer provides cards for blood spot collection and the backend software (Specimen Gate® Essentials) that streamlines information management and reporting.

What, according to you, are the prospects of newborn screening, especially in the context of India? Do you think you’ll be getting subsidies or other benefits from the government?

In India, the objective is to reduce the infant mortality rate, and a substantial step is required to upsurge screening across the country. We know that about 25mn births annually, roughly 4-5 per cent are being screened for IEMs. A vast majority of the babies in India are not screened today. PerkinElmer is committed to helping create greater awareness among government representatives and policymakers about the benefits of newborn screening and how to set up and implement NBS programs.

We are also receiving support from state governments in helping people receive mandatory newborn screening services at affordable prices.

Why are rare diseases so prevalent in India? How impactful is the National Policy for Rare Diseases recently formulated by the Ministry of Health and Family Welfare, Government of India?

The prevalence of rare diseases in India is partly due to this country being the second-most populous in the world, and around 80 per cent of rare diseases are genetic. India has a high prevalence of consanguineous and endogamous marriages – unions within extended families or from the same narrow social group, respectively – in some population clusters, which can increase vulnerability to genetic disorders due to a lack of genetic diversity.

In India, a common question arises among policymakers regarding the number of rare diseases and the number of patients suffering from rare diseases. As before, on 30th March 2021, India does not have a clear definition of rare diseases, so it is hard to estimate accurately the number of patients affected by them. Therefore, it was challenging for policymakers to draft a health care policy that adequately addresses the needs of patients and develops tertiary infrastructure to treat rare disease patients.

Awareness of disease and symptoms is essential for screening and early detection. If more people in India are aware of a disease and its symptoms, they are more likely to take action to prevent it by screening expectant mothers and their newborn babies.

With active government initiatives toward National Rare Disease Policy, we hope that awareness of rare diseases increases among the public, health societies, development organizations, NGOs, and decision-makers.

Are there any current activities PerkinElmer is doing to raise awareness about maternal health and NBS?

Indeed, totally… PerkinElmer is a medical organisation, so we lead standard media projects and workshops focused in on Maternal wellbeing and NBS worldwide and in India. There are likewise unambiguous yearly gatherings we join in and in which government officials additionally take part. Our aim with these exercises is to bring all partners onto one stage that not just catches the consideration of the general population or the public authority of India yet additionally supporting offices like the World Bank, formative associations like WHO, UNICEF, US-India Strategic Partnership Forum. India Foundation etc. I think there is something else to be finished on this issue by the public authority and the confidential area to proliferate and teach the majority about the basic significance of NBS.










inborn errors of metabolismneonatal careNewborn screening
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