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The Future of Newborn Screening in India

August 02, 2016

The Future of Newborn Screening in India

Challenges to a Healthier India

There are more than 68,000 babies born in India every day. Most never receive a heel-prick blood spot test for one of more than 50 known metabolic disorders because India lack a national newborn screening (NBS) program. The consequences are staggering. Nearly 4% of the Indian population currently suffers from some mental impairment. Another 5% to 15% of all sick newborns in India are also thought to be suffering from a metabolic disorder that could have easily been discovered with screening. 1

Aside from the lack of an national NBS initiative—or more likely because of it—there is a significant educational gap between what could be and what actually passes for newborn screening in India, says Dr. Linh Hoang, Vice President, Neonatal Screening, at PerkinElmer.

New National Initiative Underway: Observing Versus Testing

As part of India’s national health mission, medical professionals are now receiving enhanced training in the early physical identification of such birth defects as hypothyroidism.

“So the next logical step is to institute heel-prick blood testing for congenital disorders,” Hoang says. The difference between inborn errors in metabolism (IEMs) using newborn screening versus identifying physical disorders and birth defects through examinations is the tremendous cost savings, Hoang adds.

“Identifying metabolic disorders is a one-time cost that would facilitate effective management of the disease and often leads to healthy, disability-free lives,” Hoang says. While he notes that screening for physical defects is simpler and relatively affordable, it also does not factor in the financial burden of treatment. Often that means surgery and lifelong care, which may well amount to a much higher cost than that associated with establishing a national NBS program for India.

PerkinElmer’s Increasing Presence

Dr. Hoang is encouraged that several Indian states are developing their own NBS programs as public and professional awareness are growing along with available funding from both internal and international sources.

What is PerkinElmer’s role in all of this?

“The company has been involved in newborn screening in India since 2009,” Dr. Hoang says. “We currently offer the Victor2™ D fluorometer, used in newborn screening and to detect preeclampsia and Down syndrome prenatally, the AutoDELFIA® neonatal screening platform, and the GSP®, a high throughput batch analyzer intended for quantitative or qualitative measurement of neonatal screening samples on 96-well microplates.”  

Also available in India are PerkinElmer’s tandem mass spectrometry-based solutions for expanded screening of metabolic disorders as well as the company’s Resolve test kits and equipment to detect blood disorders.

A Pledge To Do More

PerkinElmer’s Hoang says that NBS awareness continues to be a major challenge in India. To that end, “PerkinElmer is dedicated to providing better training to professionals,” he says. “We want them to realize that screening is not merely a test. It is part of a comprehensive system that involves sample collection, lab quality control, continuous training, and ongoing access to treatment and therapies, he notes. “That is why we are focusing our efforts on raising awareness among policymakers, public officials, and medical professionals on how to establish newborn screening initiatives throughout India.”


  1. R. Kishore Kumar, “Newborn Screening in India: What are the Challenges and Pitfalls?,” Pediatric On call Journal, October-December 2014, Volume 11, Issue 4.

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