Exploring the revolutionary science that studies the small molecules in our biological systems and its potential to transform healthcare in Pakistan
Imagine if our bodies could tell the intricate story of our health through a unique chemical fingerprint that reveals not just what diseases we have, but what diseases we might develop.
This is not science fiction—this is the promise of metabolomics, a revolutionary field of science that studies the small molecules called metabolites within our biological systems. These metabolites, with molecular weights of less than 1500 Da, include everything from sugars and lipids to amino acids and nucleotides, creating a dynamic map of our physiological state 1 2 .
Studies the instruction manual (DNA) - what might happen
Investigates chemical outcomes - what is actually happening now
In Pakistan, where healthcare challenges range from inherited genetic disorders to rising cases of diabetes and cancer, metabolomics offers a powerful lens through which to reimagine medical diagnosis and treatment. Unlike genomics which tells us what might happen, metabolomics reveals what is actually happening right now in our bodies, reflecting the complex interplay between our genes, environment, lifestyle, and even our gut microbiome 9 .
"Metabolomics brings us closer than ever to measuring the actual physiological state of an individual, potentially providing an unprecedented array of health insights."
Metabolomics represents one of the newest 'omics' sciences, following in the footsteps of genomics, proteomics, and transcriptomics.
of chemical pathologists agree Pakistan needs metabolomics
experts with formal metabolomics training
labs with no omics-related technology
A comprehensive survey conducted by researchers at The Aga Khan University in 2022 revealed several key insights about the state of metabolomics in the country 1 3 4 :
The technological landscape for metabolomics in Pakistani clinical laboratories reveals significant opportunities for growth.
Despite limited resources, Pakistani researchers have made notable contributions to the field. A systematic review identified 12 significant metabolomics studies conducted in Pakistan between 2016-2022 2 . These include:
To truly understand the state of metabolomics in Pakistan, researchers at The Aga Khan University designed a comprehensive cross-sectional survey from June to November 2022 1 . This systematic approach provides the most complete picture currently available of this emerging field in the country.
44 chemical pathology experts from 17 laboratories across 10 Pakistani cities
24-item questionnaire in English and Urdu via Google Forms, WhatsApp, and email
Evaluated knowledge, clinical experience, and perceptions about metabolomics
The survey revealed crucial insights about metabolomics understanding among Pakistani healthcare professionals.
The data reveals a notable knowledge gap in practical aspects of metabolomics, such as sample types and analytical steps, despite better understanding of basic concepts. This pattern suggests limited hands-on experience with metabolomic techniques among Pakistani practitioners.
When examining clinical applications, the survey found that inherited metabolic disorders (IMDs) represented the most common use of metabolomics techniques, cited by 45% of respondents 1 . This aligns well with Pakistan's healthcare needs, as countries with high rates of consanguineous marriages typically face greater prevalence of inherited genetic disorders.
Metabolomics research relies on sophisticated analytical platforms, each with unique strengths and limitations. The two primary workhorses in this field are Mass Spectrometry (MS) and Nuclear Magnetic Resonance (NMR) spectroscopy 2 8 .
Primary Function: Separation and identification of metabolites
Advantages: High sensitivity, broad metabolite coverage, requires minimal sample preparation
Primary Function: Analysis of volatile organic compounds
Advantages: Excellent for volatile compounds, well-established libraries
Primary Function: Metabolic fingerprinting without destruction
Advantages: Non-destructive, highly reproducible, requires little sample preparation
Primary Function: Chemical structure analysis
Advantages: Fast detection, useful for specific applications like kidney stones
The complexity of metabolomic data necessitates sophisticated computational tools for meaningful interpretation. Unfortunately, the survey revealed that almost 73% of participants reported using no bioinformatic methods in their work 1 .
Most researchers relying on computational methods utilized open-source platforms for data processing tasks such as peak picking, filtering, and alignment.
Proper sample handling is crucial in metabolomics, as pre-analytical factors can significantly impact results. For blood-based metabolomics (including plasma and serum), key considerations include 5 8 :
Age, sex, diet, lifestyle, and health status
Temperature, tube types, and processing times
Storage temperature and duration
The path forward for metabolomics in Pakistan must address several significant challenges identified by researchers 1 2 :
High instrument costs and insufficient funding represent the most substantial barriers, with mass spectrometry equipment often costing hundreds of thousands of dollars.
Limited trained personnel and lack of awareness about metabolomics applications hinder development, with 75% of labs reporting no staff with formal metabolomics training.
The absence of omics-related technology in 33 of 44 laboratories creates a substantial technological deficit.
Low testing volumes and perceived restricted applicability reduce incentives for institutions to invest in metabolomics infrastructure.
Based on the current landscape, several strategic interventions could accelerate metabolomics development in Pakistan:
Targeted programs to build metabolomics expertise among chemical pathologists and laboratory technologists.
Establishing working groups and partnerships between institutes with relevant expertise and those seeking to develop capabilities.
Strategic investments in key technologies with high clinical utility, such as LC-MS and GC-MS systems.
Prioritizing applications with significant public health impact, including newborn screening for inherited metabolic disorders, heavy metals analysis, and toxicology.
Metabolomics represents more than just a new laboratory technique—it offers a transformative approach to understanding health and disease that aligns with the global movement toward precision medicine. For Pakistan, with its unique genetic landscape and specific healthcare challenges, embracing this technology could revolutionize how we diagnose, monitor, and treat numerous conditions 9 .
While the field currently faces significant limitations in Pakistan, the overwhelming interest from the chemical pathology community (90% of surveyed professionals agree the country needs metabolomics) provides a strong foundation for growth 1 . By intensifying efforts in education, training, and strategic investment, Pakistan can harness the power of metabolomics to write a new chapter in its healthcare story—one that listens closely to the chemical whispers within our bodies and uses them to build a healthier future for all.
The journey ahead is challenging but filled with promise. As one researcher noted, metabolomics brings us closer than ever to measuring the actual physiological state of an individual, potentially providing an unprecedented array of health insights that complement and enhance existing medical approaches 9 . For Pakistan, that future is worth investing in today.