New Delhi: Newborn screening is gaining much needed attention in India, along with the global acceptability of the fact that it not only prevents a child from any disorder that are not apparent at birth but also prevents a child from life-long ordeal in case of any metabolic or other genetic disorders.
Included recently as an important part of the National Rural Health Mission (NRHM) by the government, the newborn screening could be a huge success with the contribution of laboratories that are set up specifically to screen newborn babies for any metabolic disorders, genetic diseases, blood diseases etc.
One such lab has been set up by Thomas Mookken, who realized that newborn screening is still largely an ignored but emerging concept in India whereas in countries like US, it has been around since 1960. He became interested in newborn screening when it was discovered, through a Newborn Screening Test, that his son had G6PD Deficiency.
With an objective to give a reasonably priced accurate screening test with no shortcuts and no compromises and the one that physicians could rely on, Mookken along with Rohit Cariappa, a clinical chemist, moved to India and formed NeoGen Labs in June 2006 to offer the 1st Step Newborn Screening Test to screen newborns for IEMs (inborn errors of metabolism).
The duo set up the lab to ensure that parents of all newborns in India get the same opportunity as parents in other advanced countries are receiving.
Thomas Mookken told India Medical Times, “I was living in the US when my son was born. He underwent a newborn screening test, which is mandatory in the US, and he screened positive for G6PD Deficiency. This is a simple disorder, which can be treated easily with an avoidance (of certain foods and drugs) strategy. My spouse was in the process of relocating to India and I started investigating the market in India for newborn screening services.”
“One of the issues in newborn screening is a lack of awareness of its benefits within the medical community and the general population. Since we started nearly seven years ago, I have seen an increase in awareness which has been a very positive development. Today, our efforts are primarily targeted at educating physicians who, in turn, can pass on the knowledge to their patients,” he said.
Highlighting the service model, Mookken said, “We primarily work directly with hospitals and nursing homes. Our customers are based all over India and abroad.”
NeoGen Labs is headquartered at Ahmedabad and its lab is located in Bangalore, where the sample processing is done. It has partnered with test centres, located in ten states, which collect the samples and send them to Bangalore. The lab screens for as many as 47 disorders.
The 1st Step Newborn Screening Programme at NeoGen Labs uses interpretation based on screening data of over 3.5 million babies for the disorders screened by Tandem Mass Spectrometry (MS/MS). Newborns are screened from a dried blood spot, ideally collected within 24 to 72 hours of birth.
Though awareness of newborn screening is increasing in India, most Indian hospitals, though equipped with adequate technology, have yet to start a counselling programme for the parents to offer them an option to get the infants screened.
Mookken further said, “Newborn screening is relevant in every country. It is a matter of priority in allocating resources. Universal screening for a limited number of disorders (maybe 2 or 3) would be very effective and an efficient use of resources. For example, Congenital Hypothyroidism is a very simple disorder that can be identified soon after birth and managed very easily. The consequences of not detecting it in time are devastating. It is a choice between a healthy individual who can contribute to society versus a retarded and handicapped individual who is a burden to society.”
Not only are the hospitals overlooking the need to counsel the parents about the importance of training, they also lack adequate strength of trained paediatricians and geneticists who are exposed to the procedure and understand limitations and strengths of screening.
“There are multiple issues that have to be overcome to expand newborn screening. Some of them are — awareness among doctors and parents, government policy issues (regarding diets for treatment), competing priorities for limited resources, and availability of experts,” Mookken said.
Though completely a personal choice in India, many lives can be saved if newborn screening is made compulsory here as US and most countries in Europe and some parts of Asia have. On the policy side, government needs to give a proactive attention to formulate policies that facilitate set up of labs, provision of affordable logistics and infrastructure and international exchange of knowledge of these inherited metabolic disorders.
On the manpower side, the country needs a talented pool of paediatricians, neonatologists, biochemists and geneticists and the gap needs to be fulfilled by providing training programmes specifically in this area.
It is time when all stakeholders, right from paediatricians, professional medical bodies, government, civil society to media, assemble on a single platform to advocate and spread awareness on the utility of newborn screening that would help in achieving the goal of hundred per cent screening as every child born is precious.
by Vidhi Rathee