Why newborn screening should be a priority in India’s healthcare policy ?
By Aanchal Govindani
The case of baby Teera Kamat who was diagnosed with Spinal Muscular Atrophy (SMA) Type I - a rare genetic disease at birth, highlighted the state of congenital diseases in India. It was only after Teera turned 2 months old that her parents learnt of her life-threatening condition. Further, the only therapy for SMA is a drug named Zolgensma, priced at a whopping INR 16 crore. While it was heartening to note that the crowd-funding campaign by Teera’s parents allowed her to receive the drug on time; in the grand scheme of things, the case propelled the importance, urgency and the apparent absence of universal Newborn Screening (NBS) into consciousness.
Neonatal screening is performed on newborns to identify disorders that can affect the child’s long-term health or survival. There are over 6,000 inherited disorders, and a subset of these is called the Inborn Errors of Metabolism (IEM). The required screening test is usually done within 24-48 hours of birth and entails making a pin prick on a baby’s heel to soak a few drops of blood on a special filter paper. Separately, a urine sample is also collected. These samples are sent to a laboratory for analysis of a list of disorders.
Early diagnosis, a critical first step in neonatal screening, proves invaluable to initiate treatment and care. The idea is to detect genetic, metabolic and developmental conditions before symptoms appear. Early diagnosis enables a baby’s healthcare provider to facilitate timely medical intervention so as to prevent disabilities and mortality associated with commonly treatable disorders.
According to the Indian Medical Association, 1 in every 20 newborns is admitted to the hospital with genetic disorders. Further, every 64th newborn in a thousand is likely to inherit a genetic disease from the family. Despite this, only 2% of the newborns in India go through screening.
The objective of newborn screening is not only to ratchet up awareness regarding congenital disorders, but to also establish birth prevalence of disorders across different geographies. This is so as to micro-plan and tailor programmes dependent upon the prevalence. Unfortunately, a dearth of studies in India has led to failure in determining the frequency of disorders in the population across different regions. Inadequate health education, early hospital discharge and sizable out-of-hospital births are some reasons why neonatal screening has not been an important consideration for parents in India. Indeed, a nation where a significant proportion of population lacks access to basic healthcare, NBS will invariably struggle to get prioritised.
By the world, for the children
More than thirty years ago, the world vowed to protect the rights of children by adopting the United Nations Convention on the Rights of the Child (UNCRC). Amongst the most fundamental of these is every child’s inherent right to life as enshrined under Article 6. Further, according to Article 24, “States’ Parties recognize the right of the child to the enjoyment of the highest attainable standard of health and to facilities for the treatment of illness and rehabilitation of health.”
India ratified the UNCRC in 1992 and has registered tremendous progress in reducing the under-five infant mortality rate from 126 per thousand live births in 1990, to 34 in 2019. That said, the state of neonatal mortality still leaves much to be desired. As reported by the World Health Organisation (WHO), in 2019 over 5 lakh newborns in India died within the first 28 days of birth – highest for any country in the world. Further, what remains unknown is the number of children suffering from poor quality of life due to treatable congenital disorders. It is rather unacceptable if a significant number of babies die or grow up with disability that can be attributed to preventable causes. It underscores a critical gap in care that exists between child birth and hospital-discharge, thus necessitating a robust national strategy for universal neonatal screening.
According to the WHO, genetic services should be introduced in countries with an infant mortality rate of less than 50 per thousand live births. As of 2019, the infant mortality rate of India stands at 28 per thousand. Large scale mandatory screening will work towards improving birth outcomes, reducing mortality rate across age groups, and encouraging citizens to go for genetic counselling.
The Ministry of Health and Family Welfare under the National Rural Health Mission (NRHM), runs the Rashtriya Bal Swasthya Karyakram (RBSK), a child health screening programme which aims to provide early intervention and care to children between 0-18 years. A few jurisdictions such as Chandigarh and Kerala run their own newborn screening programmes, while Goa terminated theirs in 2013. In 2019, The Ministry of Science & Technology launched UMMID - Unique Methods of Management of Inherited Disorders initiative. However, as the onslaught of Covid-19 has caught our healthcare infrastructure off-guard, programmes such as UMMID struggle to see the light of implementation.
Newborn screening has been billed as one among the ten great public health achievements by the United States Centres for Disease Control and Prevention (CDC). The US initiated its screening programme in 1960s to detect a single congenital condition called Phenylketonuria which was one of the leading causes of intellectual and developmental disabilities in the country. The expanded programme now screens over 30 conditions.
In India, the government aims to screen newborns through the UMMID initiative. Newborns will be screened for five treatable disorders, however, what’s worth noting here is that screening of newborns is not mandatory under the programme. The initiative includes prenatal testing, genetic counselling, training to doctors in human genetics, and awareness generation activities along with newborn screening within its ambit. For its success, research needs to be undertaken to understand geography specific prevalence of disorders. This is done with the goal to expand i.e. to include a wider number of disorders under screening over time. With this aspect too under its purview, the programme appears rather ambitious.
What’s apparent is that despite these efforts, newborn screening as a concept has neither been institutionalised nor contextualised across India.
At present, both demand and supply side challenges persist. Sub optimal to complete lack of awareness is a major barrier. With 25 million births per year, there exists both a dire need and a meaningful opportunity to mainstream newborn screening in the public healthcare system of India. Mandatory screening will also be transformative in introducing the requisite culture of preventive healthcare in the country which has primarily been hailed as curative. More importantly, it will prove radical in understanding demographic prevalence of disorders and establishing the accurate burden of congenital anomalies.
Any initiative pertaining to children must carry an unwavering resolve; one that is resilient to the vicissitudes of implementation thus, inspiring hope in the powers-that-be. Infant health is a snapshot to the true picture of a society, and it remains to be seen how soon political will recognises ‘the fierce urgency of now’.
The author is currently pursuing PGP in Public Policy from the Takshashila Institution. Views are personal and do not represent Takshashila’s policy recommendations