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India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges

Philip M Farrell1, Grace R Paul2, Sneha D Varkki3

  • 1Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, 600 Highland Avenue, Madison, WI 53792, USA.

International Journal of Neonatal Screening
|April 23, 2025
PubMed

Insights

Newborn screening for cystic fibrosis (CF) is vital. Implementing CF newborn screening in the Indian subcontinent is urgent, offering a significant opportunity to improve early diagnosis and care for children.

Area of Science:

  • Medical Genetics
  • Pediatric Medicine
  • Public Health

Background:

  • Delayed diagnosis of cystic fibrosis (CF) can be fatal, necessitating early detection.
  • Newborn screening (NBS) for CF is standard in Western countries, enabling prompt care and revealing population-specific CFTR gene variant data.
  • CF NBS has challenged the notion of CF as exclusively a "white person's disease" by uncovering variations in diverse populations.

Purpose of the Study:

  • To highlight the urgent need for CF newborn screening implementation in the Indian subcontinent.
  • To underscore the potential impact of CF NBS research and service delivery in this region.
  • To advocate for India as a critical frontier for advancing CF newborn screening.

Main Methods:

  • Review of existing data on CF incidence and CFTR gene variants.
  • Analysis of clinical observations regarding delayed or missed CF diagnoses.
  • Assessment of the current status and needs of CF NBS programs globally, with a focus on Asia.

Main Results:

  • CF prevalence in the Indian subcontinent may be higher than previously assumed.
  • Delayed or missed diagnoses in young children lead to severe outcomes.
  • Significant regional and population-specific differences in CFTR variants exist.

Conclusions:

  • Implementing CF newborn screening in the Indian subcontinent is an urgent priority.
  • The region presents a unique and impactful opportunity for CF NBS research and service integration.
  • India represents a crucial, yet largely untapped, frontier for advancing global CF care through NBS.

Keywords:
IndiaIndian subcontinentcystic fibrosiscystic fibrosis transmembrane regulator geneimmunoreactive trypsinogenincidencenewborn screening

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