Molecular Diagnostics For Better Human Health
Molecular pathology focuses on the diagnosis of disease through the examination of molecules within tissues or body fluids. The true power of the human genome has been unlocked by the introduction of novel sequencing based assays and microarray technology among many others. The three big Ps – precision, personalized, and preventive medicine have all been unveiled by easily accessible top technology platforms with molecular testing solutions for the detection of major diseases, monitoring of treatment efficacy, and selection of individualized treatment protocols. As laboratories have begun taking advantage of these tools we have seen a metamorphosis in healthcare never before imagined, ultimately paving the way to improved human health.
Increasing prevalence of infectious diseases, cancer, and genetic disorders are likely to drive the growth of the molecular diagnostics industry. Moreover prenatal genetic testing is also expected to increase the adoption of this field of diagnostics. Unhealthy lifestyles can further contribute to large number of people getting afflicted with chronic ailments like cardiovascular disorders and diabetes. Not only the cost benefit ratio of molecular testing but also their seamless integration into the routine healthcare facilities in our country must be given ample thought. The cost to sequence the first genome was a whopping 3 billion USD and took 13 years to sequence; this has been reduced to the duration of one week and lesser than a thousand USD; this trending fall in price point ensures substantial reduction in commercials in coming years .
Currently molecular pathology adopts the analysis of cell-free DNA (cfDNA), which is released by dying normal or tumor cells into the blood. Molecular-based testing for infectious diseases, from bacterial borne tuberculosis to novel viral illnesses like swine flu, have all been covered under the repertoire of molecular diagnostic expertise; giving a special place to automated RT-PCR in diagnostics. The pathologist’s expertise, steering curiosity driven research is at the driver’s seat for the success of such techniques. Diligent training and affective physician sensitization is key for diagnostic efficacy. Live evidence of this has been the next generation sequencing (NGS) based techniques used for NIPT (non-invasive pre-natal testing) and PGD (pre genetic diagnosis) that have been a prime contributing factor in the reduction of neonatal mortality by almost 50 percent in the past two decades in our country.
Among the many challenges in this field; analysis of NGS data is at the top of the list. In recent years, commercially available software tools have improved and permit individuals with basic bioinformatic proficiency to interpret NGS data. The more demanding NGS applications like transcriptome sequencing or gene copy analysis however require bioinformatic professionals. Therefore, pathology departments have to recruit and integrate bioinformaticians to master the increasing demand for genetic tumor profiling. The new molecular technologies are making it possible to collect more information to fully comprehend the disease to provide the most effective treatment alternatives for the patient. The practical applications of these methods are being met by integration of molecular methods with advanced information technology and data analytics methods.
Success in the laboratory molecular testing arena requires strengthening the pillars of technology, training, quality, and personalized care in the form of counselling the patients. With the provision of having your genomics report card handy by sending testing kits with saliva to genetic testing companies and modalities like CRISPR (clustered regularly interspaced short palindromic repeats) gene editing being in the forefront of medical research, it is truly believed by the medical fraternity that the right step forward in this area of expertise can massively reduce human suffering and open the Pandora’s box to crucial breakthroughs that will surely revolutionize medicine.
