Newborn Screening Needs to be Made a Constitutional Mandate in India

Newborn Screening needs to be made a constitutional mandate in India for a safer and healthier tomorrow

Ramesh & Radha (Name changed) are a married couple from a Tier II town in Southern Tamil Nadu. The delivery of their 1st baby boy was absolutely normal bringing lot of joy in their family. But 2 months later, they noticed abnormality in baby’s movements. A few days later, the baby passed away even before the diagnosis of the actual cause which could have actually been a genetic disorder. After a few years, the couple again gave birth to a baby boy which was diagnosed for inborn metabolism disorder with motor disability after a month of birth which ultimately leads to loss of baby’s life. Had Newborn Screening been done for both these babies within the first 72 hours, the damage could have been controlled and ultimately the lives could have been saved. Similarly, there could be cases where a child leading a normal life could be diagnosed for disorders even after many years leading to major damage which could have been diagnosed through Newborn Screening methods during the child’s birth and could have been cured or controlled which brings us to the crucial points of discussion.

1. Why should Newborn Screening be mandatory in each and every state in India?

2. Why should there be a constitutional mandate for Newborn Screening?

Let’s discuss in detail.

What is Newborn Screening?

Newborn Screening (NBS) is practiced as a preventive method to reduce infant mortality across the world. This screening helps new parents to detect possible unidentified defects in the baby, after its birth. Over the years, Newborn Screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. The procedure helps detect abnormalities and attempts to address serious medical conditions at the initial stage.

Pic source: Freepik

With an early diagnostic test performed within 72 hours of a child’s birth, one can identify the causes and detect the possible higher risk of developing disorders among infants such as permanent neurological disorders and physical damage. The latter leads to mental retardation, severe anemia, lactose intolerance et al among children and with timely medical intervention, many infants could be saved from disabilities.

The Newborn screening would have made a difference for,

• Those who have metabolic diseases
• Those who might die before the age of 10
• Those families whose healthy baby has died before being a week old

There are thousands of known families affected by a child, teenager or adult with a metabolic disease. It is possible that when looked at collectively the total incidence of inherited metabolic diseases in newborn infants may well exceed the prevalence registered.

Current Scenario in India

India has the most births of any country in the world, yet NBS is still not a healthcare priority. (<=1% Newborns in India undergoes NBS). In the year 2016, UNICEF released a report stating that 6 lakh children die within the first month of their birth in India. Infant mortality is a serious concern in India and thus there is a need to have a system in check which evaluates the cause of elevating infant mortality rate across the country. According to the Indian Medical Association (IMA), one out of every 20 newborn children is admitted in the hospital with genetic disorders. It has also been stated that every 64th newborn in thousands potentially inherits a genetic disease from the family, which is transmitted to future generations.

Newborn Screening has not been a priority among Indian parents due to lack of awareness. The screening coverage has been very minimal especially in India due to poor economy, insufficient health education, early hospital discharge and large number of out-of-hospital births. Due to 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 program. Government and private hospitals need to collaborate and propose platforms to create awareness among the masses about Newborn Screening.

Pic source: Freepik

Glimpse of Hope

While the percentage coverage from NBS has increased over years in India, it is still not quantifiable. Some state programs are now beginning, and a number of provincial pilots are ongoing, including some efforts in the private sector. India is going through a progressive transitional phase of control over infant mortality and morbidity due to infections, and emergence of genetic conditions. The WHO has recommended that genetic services should be introduced in countries with an infant mortality rate (IMR) less than 50. India with an IMR of 40 should introduce mandatory newborn screening and genetic services. Many states within India are implementing pilot programs for newborn screening through the generous support of state governments and other organizations. Examples include state program in Kerala, Karnataka, Delhi and Chandigarh and a multi-centric study conducted by ICMR.

The history of Newborn Screening in India goes way back to 1980. The first study of newborn metabolic screening was carried by Dr Appaji Rao and colleagues in Bangalore, to examine the effect of consanguinity on amino acid disorders. India has already implemented a screening program – Rashtriya Bal Swasthya Karyakram (RBSK) – which largely focuses on physical birth defects. The program trains and mandates physicians to identify physical malformations and also recommends optional screening for congenital hypothyroidism. The next natural phase would be to implement biochemical testing for inborn errors of metabolism (IEMs) through the heel-prick method in the first 48 hours.

Newborn screening has already been accepted by National Health Mission and states like Kerala have executed it successfully to ensure a healthy infant population. Such newborn screening programs should significantly help in bringing down the infant death rate in India.

Pic source: Freepik

Impact of Cultural & Genetic Diversity

India is a single country of multiple cultures and genetic traits. The research and data from one state does not necessarily apply to another region. The incidence of CAH is thought to be higher in Southern India; whereas incidence of G6PD is thought to be highest in Punjab and Gujarat. Thalassemia has its highest incidence in Guajarati’s. Disorders mimicking methyl malonic acidemia (MMA) is thought to be higher in vegetarians in south India than in north India. These geographical variations and their understandings are very important in planning the health programs of a country. Hence, to conclude on prioritization of states, proper registries are to be maintained of these demographics.

Recommendations

Based on current evidence, all hospitals in urban areas in India should initiate NBS. There is a need to increase the number of physicians trained in metabolic disorders in India before widespread NBS.  It is essential to evaluate and monitor percent error rate in testing. Indian laboratories providing testing services for newborn screening should get national accreditation (NABL) for quality assurance, and participate in external quality assurance (EQAS) programs. Creation of awareness among the government representatives who can make policies for development of NBS program will be priority from the organization.

However, it may not be viable economically and ethically to screen for a complete range of disorders for which diagnostic modalities are available. Wilson and Jungner (WHO 1968) have outlined specific criteria that serve as a template to decide what disorders to include in the screening at a national platform.

These are:

1. Biochemically well identified disorder
2. Known incidence in the population
3. Disorder associated with significant morbidity and mortality
4. Effective treatment available
5. Period before which intervention improves outcome
6. Availability of an ethical, safe, simple and robust screening test.

Success of any program involves adequate follow up. Follow up services involve adequate explanation for the parents involved, financial constraints and implications involved. The parents need to be explained about the future prospects with early diagnosis and the physician involved should allay their fears.

Family therapy is very essential especially in a country like India where majority of the decisions are taken by the grandparents of the child who may have inherent fears about diagnosis of disorders they have never heard of and their fears need to be appropriately allayed.

Pic source: Internet

Recommendations for successful NBS Programs

1. Government prioritization
2. Full or partial government financing
3. Public education and acceptance
4. Health practitioner cooperation/involvement
5. Government participation in program institutionalization

A central advisory committee need to be formed that will initiate the NBS development programs with following conditions.

1. Immediate implication of CH, CAH and G6PD  diseases in urban hospitals
2. Implication of CH in rural areas
3. Screening with MS/MS is to be recommended on the conformity of needed infrastructure.

Conclusion

Although the adoption of Newborn Screening is miniscule in India, its impact is already felt by many state governments. Serious steps taken by these governments have resulted in positive impact on the lifestyle of those babies who underwent Newborn Screening. There is an immediate need to create awareness about NBS and this is a technology that needs to reach people irrespective of socio-economic barriers. The best way to reach the NBS penetration levels of developed countries is through government programs and the only way to achieve it is by making Newborn Screening a constitutional mandate, for a safer and healthier tomorrow.

Important Data:

NBS Coverage in other Noteworthy Asian Countries

India - <=1%

Australia – 100%

China – 87%

Japan – 100%

South Korea – 100%

Malaysia – 95%

New Zealand – 100%

Palau – 100%

Singapore 100%

Taiwan – 100%

Thailand – 94.1%