Editorial, J Clin Genom Vol: 7 Issue: 1

Clinical Genomics in Rare Disease Diagnosis

Anjali Mehta^*

Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

*Corresponding Author:

Anjali Mehta
Department of Pediatrics, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
E-mail: anjali.mehta@pgimer.edu.in

Received: 01-March-2025, Manuscript No. jcg-25-169329; Editor assigned: 4-March-2025, Pre-QC No. jcg-25-169329 (PQ); Reviewed: 20-March-2025, QC No jcg-25-169329; Revised: 26-March-2025, Manuscript No. jcg-25-169329 (R); Published: 30-March-2025, DOI: 10.4172/jcg.1000143

Citation: Anjali M (2025) Clinical Genomics in Rare Disease Diagnosis. J Clin Genom 7:143

Introduction

Rare diseases affect over 70 million Indians, yet many patients remain undiagnosed for years. Clinical genomics—especially whole-exome and whole-genome sequencing—has dramatically improved diagnostic rates and clinical outcomes in rare disease management.

Whole-Exome and Whole-Genome Sequencing in Diagnosis

Genomic sequencing identifies pathogenic variants in 30–50% of undiagnosed cases [1]. Trio sequencing (affected child and both parents) is particularly effective in pediatric disorders. Indian centers are increasingly adopting gene panels for conditions like primary immunodeficiencies, mitochondrial diseases, and neurometabolic disorders [2].

Impact on Clinical Outcomes and Family Planning

Genetic diagnoses enable appropriate management, prevent unnecessary interventions, and provide reproductive guidance [3]. Programs like the Indian Council of Medical Research (ICMR) Rare Disease Registry and the UMMID initiative are pivotal in mainstreaming genomics into public health [4, 5].

References

1. Yang Y (2013) N Engl J Med.
2. Wright CF (2008) Genet Med.
3. Boycott KM (2017) Genet Med.
4. (2021) ICMR Rare Disease Guidelines.
5. (2020) UMMID Initiative, MoHFW.