The Future of Healthcare Diagnostics

Ever wondered why some treatments fail to provide the desired outcome? why some people do not respond to medication? and why some diseases remain undetected before it’s too late? Well, these questions may sound putative, but to a molecular biologist, these are scientific problems with solution concealed in the method of detection. Every successful treatment is credited to diagnostic precision made by the advanced scientific tools and delivered by trained clinicians. Whereas error-in-diagnosis have harmful health effect and concerned clinicians are erroneously held accountable. The diagnostic-precision thus forms the basis for a successful medical outcome – both for the patient and for the clinician. One recently emerging area of clinical pathology is molecular diagnostics which has gained much prominence over the last two decades – after the human genome was unveiled in 2000. As our understanding of the human genome is growing, it has become apparent that almost all the diseases have a genetic association – directly or indirectly. Disease conditions exert changes in the genome, partly or wholly by altering the normal sequence pattern of the DNA. Whereas some of these changes have functional consequences and can be detected using traditional screening methods based on the symptoms of the disease. There is a growing list of diseases with subtle and sometimes mild or asymptomatic alterations – which are hard-to-detect by traditional methods. Further, the existing diagnostic tools lack precision and personalization. Thus, to overcome these challenges, the recent discoveries in molecular biology and innovations in scientific technology were coalesced to invent the field of Molecular diagnostics.

Molecular diagnostics is a specialized branch of molecular biology which sprawls at the outset of genomics and clinical pathology. In this method, the molecular information encoded in the genome is detected. Every normal person has a unique pattern of the genomic sequences in DNA, which varies between individuals, a situation called polymorphism. These unique signatures help in identification, paternity, forensics, and solve immigration cases. Apart from this, disease conditions like cancer, metabolic syndrome, infectious diseases, and congenital abnormalities impart specific and unique alterations in the genome. Molecular diagnostics, which works at the genomic level, precisely captures these unique and minute alterations, processes the information with reference to normal samples and provides the desired outcome. Besides untangling the hidden information, the methods employed in Molecular diagnostics are highly sensitive and specific. And the diagnosis is further vitalized by precision, personalization, and time – and labour-intensive outcome.

Molecular Diagnostics in the detection of human diseases

The existing cancer detection methods rely on bio-imaging, histopathology, or blood screening tests. The limitation of these approaches lies in specificity and sensitivity. The specificity issue is that – the conditions other than cancer can also exhibit somewhat similar functional features, thus making the diagnosis ambiguous. Sensitivity issue is that – some markers are either below or above the detection limit, thus providing the false diagnosis. In contrast, molecular diagnosis uses the information encoded in the genome – which is the origin of the disease. Any small changes can thus be detected with high accuracy and no ambiguity. Besides the precision in diagnosis, genomic information also serves as the basis to provide insights about disease progression, prognosis, detection of rare diseases, and any information relevant to the associated health condition. Further, the efficacy of the drugs and their mode of action are better regulated and evaluated using the genomic testing methods.

Molecular diagnostics has also provided an unprecedented ease for detection of Infectious disease like tuberculosis (TB), cholera, and antimicrobial resistance. A non-invasive approach to detect these diseases is increasing, possibly by the use of innovative and newer molecular methods. A recent example is the use of multiplexing genetic screening of sputum samples for the detection of TB. This method has garnered praise for its sensitivity and 100% specificity. In addition to this, early detection of life-threatening genetic diseases has proved to be life-saving for patients. Currently, more than over 1000 genome-based tests are available in the market – ensuring promising and accurate diagnostics.

Molecular Diagnostics and the employment opportunities

When we look at the economic impact and employment opportunities created by molecular diagnostics, the data is overwhelming. The upsurge in the job market is expected in the coming years, both in India and globally. Similarly, there will be a steep rise in the market value, which is projected to reach USD 11.54 Billion by the year 2023. To meet this high demand in the job market and considering its health benefits, Indian universities and colleges should encourage these highly specialized and advanced professional courses. As the foundational step in this direction Multidisciplinary Centre for Advanced Research & Studies, Jamia Millia Islamia has recently introduced a one-year Post-Graduate Diploma in Molecular Diagnostics. This will be the “first-of-its-kind” diploma course introduced by any Central University in India. The course is intended to help students to get early employment opportunities in the healthcare sector, research institutes as well as in industry – where the demand is surplus. The online application form for the diploma course can be obtained from the official website of Jamia Millia Islamia: There is an urgent need for these advanced skill development courses in the country. It is thus advisable that the education policymakers and the government should contemplate on introducing more such courses.

Dr. Tanveer Ahmad is Assistant Professor, Multidisciplinary Center for Advanced Research and Studies, Jamia Millia Islamia