At the highest levels of the national government, the benefits of NBS have not been fully understood and, as a result, no national policy on NBS has been created. Parent advocacy groups, like those in the United States, who have the resources to make a case for funding of screening at the national or state levels, even though the benefits of NBS are well understood by the medical community, are largely absent. Metabolic Errors and Rare Diseases (MERD) India Foundation is the only private organization making a case for universal screening in India and has done a commendable job with limited resources.
1.3.2. Public NBS Programs
Screening programs in public hospitals have the potential to achieve universal screening. About 52% of the births in India are in public hospitals where the cost of delivery is less than $
]. Since the cost of services in these hospitals, including NBS tests, are free, it is possible to screen all babies born in public hospitals.
In this commentary, I discuss three public screening programs with varying degrees of complexity (panels, geographical areas covered, and births screened per year) that have been running for more than 5 years. Each of these programs follow different models in their implementation.
The states where these programs are implemented also have low infant mortality rates (IMR), well below the Indian average of 33 in 2017 [13
]. In 2017, the IMR for Chandigarh was 14, Goa was 9, and Kerala was 10. In India, the three leading causes of infant mortality are (a) prematurity and low birth weight, (b) neonatal infections, and (c) birth asphyxia and birth trauma [14
]. Even though the IMR rate has come down significantly from 53 in 2008, these are still the leading causes of death [15
Chandigarh’s NBS program is concentrated in four urban government hospitals, screening about 15,000 births per year [16
]; Goa screens approximately 12,500 births per year [10
] in 13 government hospitals, and Kerala screens more than 140,000 births per year in over 90 government hospitals [17
]. None of these programs screen births in private hospitals.
All these programs screen for panels of disorders that are well understood by physicians in India and easily treatable. Disorders screened by MS/MS (fatty acid oxidation disorders, organic acid disorders, and amino acid disorders) are not part of the screening panels due to resource constraints (significant capital costs, few experts, lack of treatment facilities, and high cost of diets).
There are also other NBS programs, but these three are unique in their longevity. In each of these programs, the institutional birth rates for the regions covered by the programs are over 95%, which makes the task of universal screening easier. All these programs offer free screening for births in the government hospitals.
It is important to note that none of these public programs were started based on the results of pilot programs that were then translated into public health policy based on the benefits of screening. They were started for other reasons, identified in the program descriptions detailed below.
The Chandigarh Program
In 2007, the union territory (UT) of Chandigarh in India started a program to study the prevalence of three disorders (CH, CAH, and G6PD deficiency) in the territory [18
This effort has evolved into the pioneering public NBS program in India and continues to this day with the addition of other government hospitals in the UT and the testing of additional disorders. The success of the program is based on a team that is passionate about NBS, a small number of births (~15,000 in the public hospitals in 2016), close to 100% institutional births, and a small geographical area that optimizes logistic efficiency [16
The screening tests are performed in the NBS laboratory operated by the Government of Chandigarh. The laboratory participates in NSQAP.
The Goa Program
The Goa 1.0 NBS Program (2008 to 2013) was initiated based on the desire of the state government to improve neonatal care [10
]. Since health policy in India has an emphasis on IMR and incentivizes reducing it, it was believed that NBS could be a factor in improving this statistic in Goa [18
]. The NBS program screened every baby born in a public hospital (~48,000), about 50% of the births in Goa in the five-year period.
The disorders selected were a comprehensive panel of more than 50 disorders. This program followed a public–private partnership (PPP) model that was financially beneficial to the state government since their investment was minimal. All aspects of the program, other than sample collection, through the delivery of the screening report were handled by the PPP. The program laboratory participated in NSQAP. Follow-up and treatment were the responsibility of the state government [19
The program was successful in identifying disorders in Goa and raising NBS awareness in India. It also identified issues that needed to be overcome for a successful NBS program run by any state government in India. Subsequent public programs have referred to the Goa NBS program to justify screening initiatives in their states [20
The program also pointed out shortcomings in an NBS program, primarily in follow up and treatment resources (both in expertise and in availability and access to diets). One of the disappointments was there were not many success stories to showcase the benefits due to the lack of a treatment infrastructure. In 2013, the program was terminated for political reasons with a change in the government. Nevertheless, this program is a precursor to a successful universal screening program in India.
The Goa 2.0 NBS Program started in Aug 2018, incorporating the learnings from Goa 1.0. All births in government hospitals are screened and, once again, follow the PPP model [21
]. The panel was reduced to six disorders (CH, CAH, G6PD, galactosemia (GALT), biotinidase, and cystic fibrosis). There are adequate resources to treat these disorders. High-risk deliveries and all neonatal intensive care unit (NICU) admissions are screened for over 50 disorders, including those by MS/MS.
The shortcomings of the previous program were addressed, and more emphasis was placed on follow-up activities, access to experts, and availability of diets. Political will ensures the success of the program, and its progress is monitored at the highest levels of government.
The Kerala Program
The Public Health Laboratory in Kerala submitted a proposal to the central government for a pilot NBS program in 2011, which was funded [2
]. The program was launched in 2012, screening for four disorders. Since then, the program has grown and aimed to screen all births (~140,000) in government hospitals in 2018 [17
]. The program screens for CH, CAH, G6PD, and GALT in four laboratories spread across the state. None of the state screening laboratories participate in NSQAP.
After the program meets the goal of screening all the births in the government hospitals (25% of all births in Kerala per year), the program plans to extend screening to the private hospitals, which account for the remaining 75% of the births (~400,000). In the upcoming phase of the NBS program, 300,000 births per year in the next two years, are planned to be screened [22
The program is streamlining the collection and transport of samples. The testing infrastructure is in place and samples are processed in a reasonable timeframe. Even though the expertise is available to treat affected babies, the communication of positive results, follow-up, and treatment are areas that need to improve [23
]. It will take time to work out the shortcomings in the program, but Kerala is the best positioned among all the large states in India to implement a universal screening program.