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Published on: August 25, 2014
Newborn screening: need of the hour in India
Ishwar C Verma1, Sunita Bijarnia-Mahay, Geetu Jhingan
1Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, 110060, India, icverma@live.com.
Insights
The Indian government should implement newborn screening (NBS) programs to detect genetic disorders early. Initial steps include establishing a committee and piloting NBS for specific conditions in urban and rural areas.
Area of Science:
- Public Health
- Pediatrics
- Genetics
Background:
- India's current health landscape necessitates enhanced infant care strategies.
- The potential for early detection of congenital disorders in newborns is significant.
Purpose of the Study:
- To propose the introduction of a nationwide newborn screening (NBS) program in India.
- To outline a phased approach for implementing NBS, considering infrastructure and resource availability.
Main Methods:
- Review of the existing healthcare infrastructure and trends in India.
- Recommendations for a phased implementation of NBS, starting with specific disorders in urban and rural settings.
- Emphasis on developing laboratory capacity, specialized personnel, and therapeutic support systems.
Main Results:
- NBS can be initially introduced in urban hospitals for congenital hypothyroidism, congenital adrenal hyperplasia, and G-6-PD deficiency.
- Rural implementation should prioritize congenital hypothyroidism, particularly in sub-Himalayan regions.
- Development of diagnostic laboratories and a cadre of metabolic physicians is crucial for effective NBS.
Conclusions:
- The current healthcare improvements in India provide a foundation for adopting NBS.
- A structured, phased introduction of NBS will benefit infants by enabling early diagnosis and management of inborn errors of metabolism.
- Tandem mass spectrometry should be integrated later for broader, cost-effective screening.
Abstract:
After a review of the current health scene in India, the authors suggest that the Government of India should consider seriously, the introduction of new born screening. As a first step, a central advisory committee should be constituted to recommend what is required to be done to strengthen the infrastructure and the manpower to carry out new born screening, and the disorders to be screened. In the urban hospitals newborn screening (NBS) for three disorders can be easily introduced (congenital hypothyroidism, congenital adrenal hyperplasia and G-6-PD deficiency), while in the rural areas this should begin with congenital hypothyroidism, especially in the sub Himalayan areas. Concurrently, logistic issues regarding diets and special therapies for inborn errors of metabolism should be sorted out, laboratories to confirm the diagnosis should be set up, and a cadre of metabolic physicians should be build up to treat those identified to have inborn errors of metabolism. Once these are established on a firm footing, tandem mass spectrometry should be introduced as it allows the identification of a number of disorders in an affordable manner. The recent improvements and current trends in health care in India have created the necessary infrastructure for adopting NBS for the benefit of infants in India.
