Translational Bioinformatics: Dr Susil Kumar Meher, Head Health- IT, AIIMS



Translational bioinformatics (TBI) has become a vital marker of biomedical research in the time of definitive medicine. The advancement of information technologies and electronic health records has changed the atmosphere in both the healthcare industry and biomedical research. Translational bioinformatics (TBI) is focused on the integration of biomedical data science and informatics. This combination is extremely powerful for scientific discovery as well as translation into clinical practice. The reciprocal use of biomolecular data and clinical medicine has shown phenomenal results for the benefit of the healthcare industry. It is the development of methods to transform massive amounts of data into health.


Translational bioinformatics (TBI) is an evolving field in the study of health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics.

In simple words, the science of integration of biomolecular data and clinical medicine is known as Translational Bioinformatics. And the American Medical Informatics Association (AMIA) defined translational bioinformatics as “the generation of storage, analytic, and predictive methods to enhance the transfiguration of big biological data into person-centric healthcare system,” which aim to create new means that can utilize biomolecular data for promoting an efficient healthcare industry. The idea is to utilize informatics techniques to combine biologic units such as genes/proteins/small molecules to clinical units such as diseases/ drugs or vice versa to depict a broader picture of the biomedical healthcare platform.


Translational bioinformatics (TBI) is an emerging field which include gene expression profiling, data mining for analysis of records in healthcare, and pan-population based data mining will be significant in providing insights into the healthcare sector and are significant contributions of TBI till today. Such data retrieved by TBI techniques have been used to extract knowledge about ancestral pedigree, identification of genomic composition, disease risk prediction by whole genome sequencing, drug discovery leading to the development of person-centric medicine, and data sharing in pharmacogenomics. These successful achievements have gained TBI public trust and interest along with investments of various governments and corporations in the training and learning of TBI techniques that can help professionals to gain expertise in the field.

Though a relatively new field, translational bioinformatics has become an important discipline in the era of personalized and precision medicine. Advances in biological methods and technologies have given a new vision to the health care industry. The integration of genomics data with EHR data opens the door to numerous research questions about the role of genomic variation in human health. Artificial intelligence and machine learning have an important role to play in answering these questions.

With the increasingly common use of technologies like DNA and RNA sequencing, DNA micro arrays, and high-throughput proteomics and metabolomics, comes the need for discovering methods to turn these new types of data into new information and that new information into new knowledge. That new knowledge, in turn, gives rise to action, providing insights regarding how to treat disease and ideally, how to prevent it in the first place. TBI bridges the gap between research and real world applications to human health. Many health-related topics are increasingly falling within the scope of TBI, including rare and complex human diseases, cancer, biomarkers, pharmacogenomics, drug repositioning, genomic medicine, and clinical decision support systems. TBI in precision medicine attempts to determine individual solutions based on the genomic, environmental, and clinical profiles of each individual, providing an opportunity to incorporate individual genomic data into patient care.

Translational bioinformatics is a fast-moving field and integrating the basic science community from genomics, bioinformatics, computer science, and statistics together with the translational community including clinical/medical informatics, pharmacogenomics, and genomic medicine will be mutually beneficial to accelerate the translational of biomedical research into precision medicine.

The possibilities for discovery and rapid translation into clinically and biologically meaningful outcomes are tremendous. To all of this rich data, add the powerful technologies being developed in artificial intelligence and machine learning; this leads to a unique opportunity for biomedical data science to elevate in ways that are unprecedented. The future of precision medicine will be led by translational bioinformatics.


Translational bioinformatics (TBI) is a multi-disciplinary and rapidly emerging field of biomedical data sciences and informatics that includes the development of technologies that efficiently translate basic molecular, genetic, cellular, and clinical data into clinical products or health implications.

The world is entering a new era of data-driven health care. Translational bioinformatics methods will make an actual difference in patients’ lives. Infrastructure, information technology, policy, and culture need to catch up with some of the technological advances. For researchers working at the cutting edge of translational bioinformatics, opportunities abound, and the future looks bright.

As technology enables us to take an increasingly comprehensive look across the genome, transcriptome, proteome, etc., the resulting datasets are increasingly high-dimensional. The day is not far when translational bioinformatics will lead the world to precision medicine and better prognosis.

Views expressed Dr Susil Kumar Meher, Head Health- IT, AIIMS


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