Newborn screening is a paediatric screening service provided to newly born children to assess the possibility of genetic disorders in the area of “Inborn Errors of Metabolism” and while it is predominant in western countries it is still to find precedence in India. Errors or disorders in newborns could lead to permanent neurological, cognitive, tactile and physical damage in the child. However, if detected early enough, it can be easily treated.
In India, an estimated 26 million babies are born every year. However, only 2% of these babies undergo ‘Neonatal Screening’ or ‘New Born Screening’. The reason of this dismally low rate of new born screening can be attributed to low level of awareness amongst doctors and parents-to-be and their family members alike.
Factors contributing to their high prevalence include consanguineous marriages, high birth rate, improved diagnostic facilities and a lack of expertise in genetic counselling. In India, 1-4% of the population is mentally retarded and 5-15% of newborn sick babies have metabolic disorders.
Nitin Sawant, senior vice president of Trivitron Healthcare, while speaking about the importance of newborn screening programme, told India Medical Times, “The role of newborn screening programme would be to help us find babies who have certain serious medical conditions so that they can begin treatment right away. In most cases, these babies look normal and healthy at birth. They usually do not begin showing symptoms until a few weeks or months later. Once the signs and symptoms set in, the ill effects are often already permanent. In the most serious cases, they can cause death.”
According to Sawant, newborn screening helps to diagnose these babies before they start showing symptoms. By starting treatment early, serious problems like illness, intellectual disabilities or death can often be prevented. Diagnosed children can continue to live normal and healthy lives as long as they are given treatment on time and consistently follow up with a specialist. “Our call to action is because in the absence of a national policy regarding neonatal screening in India, there is an urgent need to introduce pilot studies in different parts of the country to assess the feasibility of a national screening programme,” he said.
He further said that the lack of a proper neonatal screening programme in India has given us a significant health burden. About 1-4% of the population is mentally retarded and 5-15% of newborn sick babies have metabolic disorders. With the current annual birth levels in the country at 27 million and at an incidence level of 28/1000, the number of affected children in the country who can be diagnosed and treated is several thousand for these disorders even going by conservative estimate. Approximately one-third of paediatric mental retardation stems from inability to detect metabolic disorders in early childhood. More than 98% of babies born in India are exposed to the risk of Congenital Hypothyroidism. Congenital malformations and hereditary genetic diseases being the third most common cause of mortality in newborns in India constitute a significant health burden.
The changes in healthcare setup, as suggested by Sawant, to implement newborn screening programme and to make it affordable are: In many countries, hospitals have made these tests mandatory but it is a sad thing that in India there is a very less government funded neonatal screening centres. Therefore, it always comes as an extra financial cost on the parents willing to perform the tests. The central government has to take up this responsibility, which may be shared by the state governments in due course of time. Pilot studies need to be initiated.
Government funding agencies should identify regional centres, which can offer definitive diagnosis to all neonates and empower them with technical expertise to undertake this task. Such centres, being funded by the state governments, should be the reference centre for diagnosis and therapy. The difficulties in initiation need to be tackled with creation of a task force. A public private partnership is required to offer the programme to run as a low cost model. Mass education, media propagation and training centres are required for smooth take off of the programme. NGOs already stationed in the periphery can be roped in for better execution. The programme should also address the therapy and follow up of the neonates detected, he added.
According to Sawant, screening programme in India is currently not funded by the central government or the state governments. The economic boom has brought lots of private players into the arena. Currently, there are few major players in this area in Delhi, Mumbai and Bangalore – offering the newborn screening services to the affordable clients for a price ranging from Rs 2,500 to Rs 6,000 to cover the screening costs for disorders like congenital hypothyroidism, Glucose 6 phosphatase dehydrogenase (G6PD) deficiency, galactosaemia, cystic fibrosis congenital adrenal hyperplasia (CAH), phenylketonuria, biotinidase deficiency plus aminoacids and acylcarnitines by diseases screened by tandem mass spectrophotometry (TMS). This development in some ways is good for the country as the awareness is definitely going to increase, but the disadvantage is the rich get the services and the poor are being neglected and the higher infant mortality continues to remain high among this group.
Trivitron, an Indian company, has ventured into this field with an objective to bring down the cost and making the economics of a national universal screening programme feasible. By producing these products in India through ‘Make in India’ initiative, the costs of initial setup and running costs can be reduced by over 50% in the initial phases.
The importance of newborn screening is emphasized based on the fact that other countries have been successfully benefitted from the implementation of mandatory newborn screening. The last four decades have witnessed rapid evolution in implementation and strategies used for NBS in US, Europe, Japan and other industrialized nations where NBS is well-accepted public health policy. Whereas the Indian government has still not taken any steps for providing support to the screening facilities, let alone make it mandatory, according to Sawant.
The success rate at screening implementation in China reaches over 85% of all Chinese newborns. Benefits of NBS do not end only with saving life of the diagnosed cases but they extend up to prenatal period of diagnosis and family genetic counselling, thus reducing the national burden of genetic disorders.
Infant and neonatal mortality is sad but for a child growing up as a mentally retarded or sick child and dying in the due course is even more miserable. These newborn screening, according to doctors and health workers, could help identify these disorders at the earliest and help in their alleviation.
by Usha Nandini