Dr Rajiv Tandon, Director, Health and Neha Kashyap, Manager-Health, RTI International India emphasises that IEM diseases are estimated to affect one child out of every 2497 births in India. This results in the child suffering from rare medical conditions that endangers life or renders them incapable of taking care of themselves for the rest of their lives
“My 8-month-old is suffering from a rare disease. She will not survive without your help!” We often see such advertisements on the web where desperate parents plead for funds for a critical treatment, injection or surgery that can save their child’s life.
But even as we reach into our pockets, we should deliberate on the question-Is there a way these conditions could be averted? The answer would be partially yes. In many cases something can be done about prevention and progression to serious stages.
The area of rare diseases is complex and heterogeneous. But for a subset of such diseases caused because of Inborn Errors of Metabolism (IEM), relatively significant progress has been made. In case of IEM diseases, pre-symptomatic diagnosis, and early initiation of treatment can completely change the course of the disease and halt the progress to many such life-threatening and disabling conditions. Newborn Screening (NBS) at the time of birth is the way to diagnose about 70 IEM-based disorders that aren’t otherwise detectable at birth.
IEM diseases are estimated to affect one child out of every 2497 births in India. This results in the child suffering from rare medical conditions that endangers life or renders them incapable of taking care of themselves for the rest of their lives. Given that about 2.5 crore births happen every year, this miniscule proportion starts adding up.
Case in point is congenital hypothyroidism, a condition where thyroid hormone is not produced in sufficient quantities and is a preventable cause of mental retardation. Early diagnosis, within 10 days of birth through NBS and thyroid hormone replacement therapy can help in normalisation of hormone levels by 3 weeks, ensuring a normal life for newborn, which could otherwise progress to serious complications such as mental disability, growth delays, or loss of hearing on account of delayed diagnosis.
Newborn screening at the time of birth (or at least within 3 days of birth) is the only way to diagnose such disorders that manifest in children at a later age in the form of rare conditions. These disorders aren’t otherwise found at birth. With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems and life-threatening consequences later in life.
The test is done with a heel prick test and dried blood spot sample taken from babies’ heel, sent to laboratories for analysis to screen for such selected conditions.
Newborn screening is not a new concept. It has been used as an effective disease detection and treatment protocol for decades. In developed countries like the US, the universal NBS program is already mandatory for detecting about 50 congenital conditions and has been regarded as one of the 10 great public health achievements by the Centre for Disease Control and Prevention.
In India, some states and UTs like Goa, Kerala and Chandigarh have set up NBS programs for certain IEM conditions, recognising the criticality to shift the needle on their low infant mortality further down. These states set up public health laboratories for undertaking newborn screening tests and trained its medical professionals at centres which were conducting deliveries to enrol parents for newborn screening through counselling.
The medical staff was also asked to report any abnormal findings to parents, provide treatment, counselling and follow up on the child’s progress. Such models need to be expanded in both scope and conditions screened as well as reach across the country.
The NBS program needs a push from the Central Government. By releasing the ‘National Policy on Rare Diseases’ the Government of India has demonstrated its intent to respond to this emerging health priority. The policy calls for setting up of centres of excellence in medical colleges to serve as a hub in terms of knowledge, detection, treatment and counselling care for such rare health conditions in which caregivers mostly have very limited understanding and health professionals are not equipped enough to deal with. We need to increase the number of such centres of excellence and get them operational at the earliest.
Another promising initiative that could mainstream newborn screening in the public health system is the Rashtriya Bal Swasthya Karyakram (RBSK) program launched to detect and treat diseases in children from birth right up to the age of 18 years. While RBSK has made significant investments in strengthening the state governments’ capacities to undertake screening, diagnosis, referral, and treatment of children for 4 Ds (Development delays, Deficiencies, Diseases, and Defects), it remains at a nascent stage in some states.
Also, the 29 conditions listed under RBSK do not include these rare conditions including IEM, even though they do find a mention in RBSK guidelines. We hope that subsequent guidelines on screening and managing IEM are released at the earliest.
One of the inhibiting factors for countries like India to take up a universal NBS program is resource constraints that force policy makers to make difficult choices about conditions that need to be prioritised. Therefore, introducing the program should be carefully based on parameters like including conditions that are more prevalent, are preventable, have treatment available, are treatable at lesser costs when detected early, and have good prognosis and quality of life with treatment.
Further, economies of scale can help bring down costs per disease detection (currently pegged at approx. $5-$6), by adding more such conditions that can be screened at once. Such prevalence, and cost effectiveness studies can be instrumental in adding additional diseases to the panel of tests and may be preferably undertaken in States with established programs in place.
The screening programs being run in some states can in fact also offer best practices and a blueprint to develop a country-wide intervention that is not just scalable but also sustainable.
While setting up newborn screening programs requires multidirectional efforts from setting up lab infrastructure, training medical staff, counselling parents, creating support networks for treatment and rehabilitation etc, it is an opportune time to set on this journey that holds the promise of ensuring longer and healthier lives for our coming generations, and makes India stand to the commitment of leaving no child behind.
Nice article. Gives voice to a critical issue. India has a decent rare diseases policy. Now there is need to operationalize it.
In short term, probably it would be better to outsource NBS to private Laboratories and pay for those services while the govt. lab set-up catches up and so that we don’t miss the children in meantime.
Additionally, centralized tele- consultation through e-Sanjeevani for counseling parents with adverse NBS findings can be set up. This way, we can efficiently use the resources and give a specialized service at a very low cost due to pooling of the service.