Review Article
Volume: 8 | Issue: 1 | Published: Jun 25, 2025 | Pages: 036 - 047 | DOI: 10.24911/JBCGenetics.11-2221
Bridging metabolomics and genomics: genetic counselling for IEMs
Authors:
Komal Uppal
, Himani Kaushik
, Namita Bhardwaj
, Shivani Sharma
, Sunil Kumar Polipalli
, Somesh Kumar
, Seema Kapoor
Article Info
Authors
Komal Uppal
Department of Medical Genetics, Maulana Azad Medical College, Delhi University, Delhi, India
Himani Kaushik
Compute Genomics Pvt. Ltd., New Delhi, India
Namita Bhardwaj
Department of Medical Genetics, Maulana Azad Medical College, Delhi University, Delhi, India
Shivani Sharma
Department of Medical Genetics, Maulana Azad Medical College, Delhi University, Delhi, India
Sunil Kumar Polipalli
Department of Medical Genetics, Maulana Azad Medical College, Delhi University, Delhi, India
Somesh Kumar
Department of Medical Genetics, Maulana Azad Medical College (Delhi University), Delhi 110002, India
Seema Kapoor
Department of Medical Genetics, Maulana Azad Medical College, Delhi University, Delhi, India
Publication History
Received: May 17, 2025
Accepted: June 20, 2025
Published: June 25, 2025
Abstract
Inborn errors of metabolism (IEMs) caused by a deficit of some specific metabolic pathways are phenotypically heterogeneous complex disorders. Although in recent years metabolomics has helped in understanding the pathophysiology of IEMs, its challenges and limitations such as false positives and negatives result in delayed diagnosis and postponed treatment. This leaves the physician with a large list of differential diagnosis among IEMs. Early and accurate diagnosis in case of suspicious IEMs can be lifesaving, especially for conditions those are treatable. Recently, next-generation sequencing (NGS)-based whole-exome sequencing proved to be an efficient technology in enhancing the accuracy of diagnosis of metabolic disorders, especially for complex disorders. It offers a broader range of disorders diagnosed at an affordable cost compared to metabolomics. The aim of this article is to provide insights into bridging metabolomics and NGS-based genomics to improve diagnostic yield in complex IEMs, while also emphasizing the role of genetic counselling in empowering families and improving patient quality life.
Keywords: Inborn errors of metabolism, Metabolomic, Genomics, Genetic counselling.
Pubmed Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor. Bridging metabolomics and genomics: genetic counselling for IEMs. JBC Genetics. 2025; 25 (June 2025): 036-047. doi:10.24911/JBCGenetics.11-2221
Web Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor. Bridging metabolomics and genomics: genetic counselling for IEMs. https://jbcgenetics.com/articles/2221 [Access: August 28, 2025]. doi:10.24911/JBCGenetics.11-2221
AMA (American Medical Association) Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor. Bridging metabolomics and genomics: genetic counselling for IEMs. JBC Genetics. 2025; 25 (June 2025): 036-047. doi:10.24911/JBCGenetics.11-2221
Vancouver/ICMJE Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor. Bridging metabolomics and genomics: genetic counselling for IEMs. JBC Genetics. (2025), [cited August 28, 2025]; 25 (June 2025): 036-047. doi:10.24911/JBCGenetics.11-2221
Harvard Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor (2025) Bridging metabolomics and genomics: genetic counselling for IEMs. JBC Genetics, 25 (June 2025): 036-047. doi:10.24911/JBCGenetics.11-2221
Chicago Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor. "Bridging metabolomics and genomics: genetic counselling for IEMs." 25 (2025), 036-047. doi:10.24911/JBCGenetics.11-2221
MLA (The Modern Language Association) Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor. "Bridging metabolomics and genomics: genetic counselling for IEMs." 25.June 2025 (2025), 036-047. Print. doi:10.24911/JBCGenetics.11-2221
APA (American Psychological Association) Style
Komal Uppal, Himani Kaushik, Namita Bhardwaj, Shivani Sharma, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor (2025) Bridging metabolomics and genomics: genetic counselling for IEMs. , 25 (June 2025), 036-047. doi:10.24911/JBCGenetics.11-2221