National Neonatal Screening Initiatives in India
Neonatal or Newborn Screening (NBS) is a vital public health intervention designed to identify infants with serious metabolic, endocrine, or genetic disorders shortly after birth. Early detection through these programs allows for timely treatment, preventing permanent disability or death.
State and Institutional Programs
1. Government Medical College & Hospital (GMCH), Chandigarh
GMCH Chandigarh conducts Universal Newborn Screening to identify common Inborn Errors of Metabolism (IEM), ensuring that infants in the region receive a healthy start to life.
Reference: GMCH Overview
2. SHALABHAM (Kerala)
The Government of Kerala has implemented a comprehensive Newborn Screening Program known as Shalabham. This initiative aims to screen every child born in the state for visible birth defects and underlying metabolic conditions.
Reference: Shalabham Kerala
3.SGPGI-Lucknow
Newborn screening program: National Health Mission funded program for newborn screening for 5 genetic disorders was established in 2015 and till 2019, 65000 newborn babies were screened from 9 hospitals in Lucknow, Barabanki and Raibarelly. Two hundred and fifty seven were diagnosed with Congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, biotinidase deficiency or G6PD deficiency and are being managed.
In 2019, Department of Biotechnology has funded for screening of pregnant women for beta thalassemia and genetic disorders and newborn screening under a big program, UMMID, in district hospital of Shrawasti which is an aspirational district. The outreach and preventive programs for newborn screening and beta thalassemia are the models or preventive medicine reaching the society and especially the women and children of lower socioeconomic strata.
The patients with the following clinical conditions or presentations indicate the need for referral to medical genetics centre for evaluation by clinical geneticists and genetic counseling. A variety of patients with genetic disorders of any system of the body are seen in the medical genetics department.
https://sgpgims.org.in/Departments/Genetics1/Community.html
4. Directorate of Health Services, Goa
Introduced on June 14, 2008, Goa’s NBS scheme screens all newborns delivered in government hospitals for Inborn Errors of Metabolism. The state continues to expand these services under the National Rural Health Mission (NRHM).
Reference: DHS Goa - NRHM | 3-Year Review Report
5. Mysuru, Karnataka
Expanding its healthcare reach, eight Taluk Hospitals in Mysuru have launched dedicated newborn screening services to ensure rural populations have access to early diagnostic care.
Reference: The Hindu - Mysuru Health Update
National Healthcare Schemes & Frameworks
The Ministry of Health and Family Welfare (MoHFW), Government of India, has introduced several schemes to align with Sustainable Development Goal 3 (Good Health and Well-Being). These initiatives make neonatal care affordable and accessible:
RMNCH+A: A comprehensive strategy focusing on Reproductive, Maternal, Newborn, Child, and Adolescent Health.
Janani Shishu Suraksha Karyakaram (JSSK): This scheme entitles all pregnant women and sick newborns to free transport, drugs, diagnostics, and diet within public health institutions.
Rashtriya Bal Swasthya Karyakram (RBSK): A national program dedicated to early identification and intervention for children from birth to 18 years, covering the "4 Ds": Defects at birth, Deficiencies, Diseases, and Development delays.
Resource: RBSK Birth Defects Handbook
Portal: Official RBSK Website
The Evolution of Specialized Care
To further support newborn health, many specialized childcare centers have now mandated Newborn Screening as a standard protocol. Additionally, there is a growing network of Rare Disease Clinics, Departments of Medical Genetics, and Child Development Clinics across India to provide long-term management for identified conditions.
Initiative for Rare Diseases
https://www.pib.gov.in/PressReleaseIframePage.aspx?PRID=2043516
https://rarediseases.mohfw.gov.in/uploads/Content/1624967837_Final-NPRD-2021.pdf
https://rarediseases.mohfw.gov.in/
Centre of Excellence Treating Rare Disease
The Centre of Excellence (CoE) treating rare diseases in India is a key component of the National Policy for Rare Diseases (NPRD), 2021. These centers are designated government tertiary hospitals with facilities for the diagnosis, prevention, and treatment of rare diseases.
Process for a Patient to Avail Treatment at a CoE
The process for a patient to get treatment at a Centre of Excellence generally involves the following steps:
Approach a CoE: A patient with a diagnosed or suspected rare disease needs to approach the nearest or any of the designated CoEs.
Registration: The patient registers at the CoE. This is a crucial step to get on the official list and to be considered for financial assistance.
Evaluation and Recommendation: The CoE's medical team evaluates the patient's condition and makes a recommendation for treatment.
Application for Financial Assistance: Under the NPRD, 2021, the government provides financial support of up to ₹50 lakh per patient for treatment at a CoE. This assistance is not limited to BPL (Below Poverty Line) families but is extended to about 40% of the population eligible under the Pradhan Mantri Jan Arogya Yojana.
Fund Disbursement: The funds are released directly to the CoE by the government based on the recommendations of the Rare Disease Committee at the CoE.
Crowdfunding: For diseases that require a high-cost, long-term or lifelong treatment (Group 3 diseases), the government has set up a digital portal for crowdfunding and voluntary donations. The CoEs list the patients in urgent need of crowdfunding on this portal.
List of Centres of Excellence (CoEs)
As of sep 2025, there are a number of designated CoEs across India, including:
All India Institute of Medical Sciences (AIIMS), New Delhi
Maulana Azad Medical College (MAMC), New Delhi
Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGI), Lucknow
Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh
Centre for DNA Fingerprinting & Diagnostics (CDFD) with Nizam's Institute of Medical Sciences, Hyderabad
King Edward Memorial (KEM) Hospital, Mumbai
Institute of Post-Graduate Medical Education and Research (IPGMER), Kolkata
Centre for Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru
Institute of Child Health and Hospital for Children (ICH & HC), Chennai
All India Institute of Medical Sciences (AIIMS), Jodhpur
Sree Avittam Thirunal (SAT) Hospital, Government Medical College, Thiruvananthapuram
All India Institute of Medical Sciences (AIIMS), Bhopal
All India Institute of Medical Sciences (AIIMS), Patna
Assam Medical College & Hospital, Dibrugarh
Key Features of the National Policy for Rare Diseases (NPRD), 2021
The NPRD, 2021 provides the framework for rare disease management in India. Its key features include:
Financial Assistance: A financial support of up to ₹50 lakh is available per patient for treatment at the designated CoEs.
Categorization of Diseases: Rare diseases are categorized into three groups:
Group 1: Disorders amenable to one-time curative treatment.
Group 2: Diseases requiring long-term/lifelong treatment with a relatively lower cost.
Group 3: Diseases for which definitive treatment is available, but are very high-cost and require lifelong therapy.
National Registry: The policy aims to create a national hospital-based registry of rare diseases to gather data for research and development.
Research & Development: It encourages indigenous research and development of drugs for rare diseases. A National Consortium for Research and Development on Therapeutics for Rare Diseases (NCRDTRD) has been established for this purpose.
for more update
https://ordindia.in/treatment-centers-in-india-govt/
Import Exemptions: The government provides exemptions from Basic Customs Duty (BCD) and Integrated Goods and Services Tax (IGST) on drugs imported for the treatment of identified rare diseases.
Crowdfunding Platform: A digital platform has been created to facilitate voluntary donations from individuals and corporations to help cover the treatment costs for patients, especially those with Group 3 diseases.
FOR RARE Disease Family
KEM Hospital
For assistance, patients can contact the on-duty residents at KEM Hospital by calling 022-24107014. The phone line is open on weekdays, excluding public holidays, from 10:00 AM to 1:00 PM.
AIIMS Jodhpur
Patients can visit AIIMS Jodhpur on any working day. For more information or assistance, you may contact Dr. Tanuja at +91 99102 30340.
Help in center of Excellence Registration
Kindly contact Ms Sarika Modi from IEM Support
Email; sarika.iemsp@gmail.com ,Mobile number : 9810746265
Contact 4pm tp 6pm
you can also contact ORD India
Helpline: +91-8892555000
Email: contactus@ordindia.in
Diet for Life
https://eatrightindia.gov.in/diet4life/
https://fssai.gov.in/cms/diet4life.php
https://fssai.gov.in/upload/knowledge_hub/1385075b34be3d5828aDiet4Life.pdf
https://fssai.gov.in/upload/advisories/2021/06/60dc63950f19cDirection_IEM_30_06_2021.pdf
https://www.fssai.gov.in/upload/advisories/2022/02/6204fbf56a3aeOrder_IEM_10_02_2022.pdf
2=Government of Rajasthan Portal for rare Disease
A-https://rajsambal.rajasthan.gov.in/Index.aspx
B- मुख्यमंत्री आयुष्मान बाल सम्बल योजना
https://sje.rajasthan.gov.in/siteadmin/Uploads/202412171017148768.pdf
The information provided in this Above has been sourced from various websites and articles. By no means we claim to be exhaustive or up-to-date.