Ever since the advent of genomic medicine, healthcare professionals face a compelling need to enhance their genomic literacy.

 

 

 

 

 

The physicians are expected to be equipped with the knowledge and skills of genomic and other high-throughput ‘omics’ technologies in clinical labs in order to understand and interpret such data for patient care. It has been reported that primary care physicians and clinicians feel underequipped when it comes to interpreting genetic tests and direct-to-consumer genomic tests. Considering the significance of genetic information for the applications of precision medicine, this is a pressing issue that has to be addressed.

 

There are several factors that prevent or slow down precision medicine from successfully integrating into the healthcare domain. Among which, the shortage of subject matter experts in Genetics and documented low confidence levels within the ranks of primary care physicians tops it. There is also a constant desire for a transition to a medical care model where providers are afforded a higher degree of granularity in their treatments and decision-making. But currently, there is a lack of experts ready to usher in this paradigm shift. Contemporary physicians appear to be underequipped to face this challenge alone.Benedict Yan et.al argue that enhancing the literacy of physicians in the understanding and interpretation of genomics and other ‘omics’ data should be integrated into the core medical curriculum. They also propose a set of foundational concepts/skills to be taught as a translational bioinformatics module.

 

Why should Clinicians pursue bioinformatics?

 

Combining bioinformatics, medical informatics, information technology, mathematics, ‘omics’ science, human microarray analysis, clinical research methodologies and human databases, it has its applications in understanding the molecular and cellular mechanisms to treat human diseases better. It has been used extensively in clinical, pharmaceutical and biomedical research areas, public health, drug designing, and genomics. Presently, there is pressing need for clinicians trained to oversee the responsible translation of Computational Biology and Bioinformatics research into clinical tools. Physician-scientists with dedicated Computational Biology and Bioinformatics training can facilitate such translation, positioning themselves at the intersection between computational biomedical research and medicine. A doctor’s clinical experience is highly valued. It bridges the gap of understanding of the physical manifestation of disease processes and their impact on the patient, as well as insight into the ways our treatments work or don’t work.

 

The important applications of Clinical Bioinformatics

• Clinical bioinformatics focuses more on clinical informatics, including patient complaints, history, therapies, clinical symptoms and signs, physician's examinations, biochemical analyses, imaging profiles, pathologies and other measurements.

 

• Simultaneous evaluation of clinical and basic research could improve medical care, care provision data, and data exploitation methods in disease therapy and algorithms for the analysis of such heterogeneous data sets. This particular study tried to match disease complexity of patient information, clinical data, standard laboratory evaluations, brain imaging data and genetic data obtained from molecular profiling experiments.

 

• Clinical bioinformatics is a new way to focusing the combination of clinical measurements and signs with human tissue-generated bioinformatics, understand clinical symptoms and signs, disease development and progress, and therapeutic strategy, and map relationships that integrate discrete elements that collectively direct global function within a particular -omic category, with clinical examinations, pathology, biochemical analysis, imaging and therapies.

 

• Precision Medicine/ Personalised Medicine is a more targeted approach to disease prevention and treatment. Rather than the generalized diagnostic protocols and/or treatment options, using the genetic make-up of individual patient-related information would be directly incorporated for diagnosis and treatment recommendations. The concepts of personalised medicine are nothing new; the best physicians have always treated their patients on an individual, personalized level. Whereas, the term “precision medicine” emphasises on treating and preventing diseases based on an individual’s genetic, lifestyle-related, and environmental factors.

 

• Direct-to-consumer genetic tests- Amongst the principal components of precision medicine, genomic information is the most challenging one. Gene sequencing has been used for prediction and diagnosis for many years. But in 2007 emerged a new marketplace that enables customers to order their own genetic tests online- the Direct-to-Consumer (DTC) genetic tests. A wide range of DTC tests are available covering a variety of options such as tracking ancestry/family history, Calculating disease risk and identifying specific traits.

 

• The Knowledge of biostatistics concepts related to Genome wide association studies (GWAS) can help assess the risks and the effects of a variant. Currently, the DTC tests focus on the analysis of SNs (Single Nucleotide Polymorphism). When precision medicine becomes standard practice, genomic tests are expected to contain majority of the information. The correct interpretation by clinicians, particularly by primary care physicians is considered a critical factor that will help determine if these tests will be valuable in the clinical domain. The American College of Medical Genetics and Genomics cite this complexity while recommending that genetics experts should be consulted for patient DTC genetic test results. It is evident that primary care physicians feel ill-equipped to answer their patients about DTC tests-related queries and the number of medical geneticist and counsellors remain small.

 

Preparing clinicians for the next revolution

• Medical students should get adequate training and exposure in topics related to genetics, genomics and standard statistical techniques. Bioinformatics should be made a core competency which could be embedded in each level of medical training.
• Apart from introducing Bioinformatics and biomedical tools, they should be made aware of the strengths and weakness of approaches like GWAS and data mining and be able to evaluate findings derived from these types of study.
• Medical residency programs should enable research applications into clinical practice.
• There should be an increase in the number of subject matter experts like genetic counselors, bioinformaticians, and biomedical informatics specialists.
• Foundations should be encouraged to fund bioinformatics and biomedical informatics doctoral programs and research. Also, new fellowships could be established in order to encourage newly accredited informatics programs.
• Introduce new continuing medical education (CME) courses that focus on precision medicine, genomics, and bioinformatics tools.
• Create certification programs on Precision medicine.

 

Driven by the impact of technology in diverse areas, bioinformatics is becoming increasingly interdisciplinary, and, in parallel, so too are the audiences seeking bioinformatics training.Clinical bioinformatics is a new way to focus on the combination of clinical measurements and signs with human tissue-generated bioinformatics, understand clinical symptoms and signs, disease development and progress, and therapeutic strategy, and map relationships that integrate discrete elements that collectively direct global function within a particular -omic category, with clinical examinations, pathology, biochemical analysis, imaging and therapies.There seems to be an immediate need to create forums, stimulate discussion, and exchange of scientific findings and understandings of clinical bioinformatics with a clear goal of treating diseases and improving the quality of patients. Biomedical informatics would streamline patient data analysis for research activity which in turn could be utilized for better patient care.