Clinical Bioinformatics Specialist
Premas Lifesciences Pvt Ltd.
Apparently, both biotechnologists and medical professionals through their academic syllabus might have caught a glimpse of bioinformatic concepts and its importance. This article is a genuine attempt to inspire and showcase the extensive role, skillsets and importance of clinical bioinformatics from international accredited (CAP/CLIA/RCPA/EMQN) genomics centre helping in improving the clinical outcome of patients and their lifestyles.
Importance of Centralized Genomics facility: The International accredited Healthcare providers with the Centre for Excellences and dedicative Laboratory Medicine, in which there are departments like genetics and molecular medicine, hematopathology, transfusion medicine and histocompatibility, immunology, histopathology, clinical microbiology and molecular microbiology have all the privileges to enrich Genomics testing as a central facility. Medical consultants from any of the Centre for Excellence will have an advantage over centralized Genomics facility as it enables the clinical utility of patients in fields such as oncology, gynecology, reproductive systems, transplant and neurology. Hence, the need of the hour is having a central genomics facility in the healthcare industry as it is incrementally promising.
Heroes behind the screen in Genomics Centers: The people executing these high-end testing at Genomics Centre are capable of handling thousands of samples. Additionally, molecular biologists and life science graduates with ultramodern robotics systems and clinical bioinformaticians with sophisticated Cloud Computing/High Performance Computing (HPC)/Field Programmable Gate Arrays (FPGA) infrastructure, are able to analyze Terabytes (TB) and Petabytes (PB) of data. The Clinical Geneticist and tumour board committee also play keys role in reporting the findings.
General bioinformatics skills required for analyzing a genomics dataset: The key skills needed as far as analysis is concerned are:
• Logical thinking for scripting.
• Pipeline building and validation.
• Database integration and management.
• Following important guidelines like Association for Molecular Pathologists (AMP), American College of Medical Genetics and Genomics (ACMG), Association for Clinical Genomic Science (ACGS) and so on for analysis, interpretation and reporting.
When Clinicians ask the right questions, wisdom will be provided: Be it acquired cancer, complex traits, infectious disease, lifestyle-based disease, neurology disorders, rare disease or confirming the criminals scientifically, in any of those cases asking the right questions is crucial (Fig 1).
Here are the list of Clinicians/Consultants and the respective wisdom they can get from Clinical Bioinformaticians.
• Oncologist/Neurologist: Patient’s Single Nucleotide Polymorphism (SNPs), Copy Number of Variants (CNV), Structural Variants (SV), Tumour mutation burden (TMB), Microsatellite instability (MSI), Homologous Recombination Deficiency (HRD) with appropriate therapy recommendations based on FDA and Clinical trials.
• Infectious disease Consultant: Patient’s microbial components/propositions profile with possible antimicrobial inhibitors/drugs.
• Transplantation Experts/Surgeons: Identifying the right donor by HLA typing for the recipient in need.
• Gynecologist: Confirming there are no chromosomal abnormalities observed in fetes.
• In-vitro Fertilization specialist: Confirming the female embryo doesn’t have any chromosomal abnormalities and its very safe for further proceeding.
• Regular interval reviewer: Calculating overall survival rate to know the clinical outcome of the patients.
• Sports Medicine/Fitness/Wellness/Nutrigenomics/: Potential suggestions to improve the sports performance efficiently, strategic wellness plan and tailored healthy lifestyle based on Polygenic risk scores.
• Forensic Criminal Investigators: The Short Tandem Repeats [STRs], SNPs, eye/hair traits, ethnicity of suspect profiles matched with Crime scene evidence in order to provide the justice to law and order.
• Clinical research forecast planer: future plan of action based on analytical insights (Fig 2).
Clinical bioinformaticians wear multiple caps with a wisdom to enlighten the modern laboratory medical practices and to improve patient lifestyle. Besides that, healthcare providers who are interested in international standards should come forward with an idea of building a genomics center facility to utilize the holistic genomics spectrum as an integrative system with machine learning approach to enrich the golden future of modern laboratory medicine.