Ever wondered why some treatments fail to provide thedesired outcome? why some people do not respond to medication? and why somediseases remain undetected before it's too late? Well, these questions maysound putative, but to a molecular biologist, these are scientific problemswith solution concealed in the method of detection. Every successful treatmentis credited to diagnostic precision made by the advanced scientific tools anddelivered by trained clinicians. Whereas error-in-diagnosis have harmful healtheffect and concerned clinicians are erroneously held accountable. Thediagnostic-precision thus forms the basis for a successful medical outcome –both for the patient and for the clinician. One recently emerging area ofclinical pathology is molecular diagnostics which has gained much prominenceover the last two decades – after the human genome was unveiled in 2000. As ourunderstanding of the human genome is growing, it has become apparent thatalmost all the diseases have a genetic association – directly or indirectly.Disease conditions exert changes in the genome, partly or wholly by alteringthe normal sequence pattern of the DNA. Whereas some of these changes havefunctional consequences and can be detected using traditional screening methodsbased on the symptoms of the disease. There is a growing list of diseases withsubtle and sometimes mild or asymptomatic alterations – which arehard-to-detect by traditional methods. Further, the existing diagnostic toolslack precision and personalization. Thus, to overcome these challenges, therecent discoveries in molecular biology and innovations in scientifictechnology were coalesced to invent the field of Molecular diagnostics.
Molecular diagnostics is a specialized branch of molecularbiology which sprawls at the outset of genomics and clinical pathology. In thismethod, the molecular information encoded in the genome is detected. Everynormal person has a unique pattern of the genomic sequences in DNA, whichvaries between individuals, a situation called polymorphism. These uniquesignatures help in identification, paternity, forensics, and solve immigrationcases. Apart from this, disease conditions like cancer, metabolic syndrome,infectious diseases, and congenital abnormalities impart specific and uniquealterations in the genome. Molecular diagnostics, which works at the genomiclevel, precisely captures these unique and minute alterations, processes theinformation with reference to normal samples and provides the desired outcome.Besides untangling the hidden information, the methods employed in Moleculardiagnostics are highly sensitive and specific. And the diagnosis is furthervitalized by precision, personalization, and time – and labour-intensiveoutcome.
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 approacheslies in specificity and sensitivity. The specificity issue is that – theconditions other than cancer can also exhibit somewhat similar functionalfeatures, thus making the diagnosis ambiguous. Sensitivity issue is that – somemarkers are either below or above the detection limit, thus providing the falsediagnosis. In contrast, molecular diagnosis uses the information encoded in thegenome – which is the origin of the disease. Any small changes can thus bedetected with high accuracy and no ambiguity. Besides the precision indiagnosis, genomic information also serves as the basis to provide insightsabout disease progression, prognosis, detection of rare diseases, and anyinformation relevant to the associated health condition. Further, the efficacyof the drugs and their mode of action are better regulated and evaluated usingthe genomic testing methods.
Molecular diagnostics has also provided an unprecedentedease for detection of Infectious disease like tuberculosis (TB), cholera, andantimicrobial resistance. A non-invasive approach to detect these diseases isincreasing, possibly by the use of innovative and newer molecular methods. Arecent example is the use of multiplexing genetic screening of sputum samplesfor the detection of TB. This method has garnered praise for its sensitivityand 100% specificity. In addition to this, early detection of life-threateninggenetic diseases has proved to be life-saving for patients. Currently, morethan over 1000 genome-based tests are available in the market – ensuringpromising and accurate diagnostics.
Molecular Diagnostics and the employment opportunities
When we look at the economic impact and employmentopportunities created by molecular diagnostics, the data is overwhelming. Theupsurge in the job market is expected in the coming years, both in India andglobally. Similarly, there will be a steep rise in the market value, which isprojected to reach USD 11.54 Billion by the year 2023. To meet this high demandin the job market and considering its health benefits, Indian universities andcolleges should encourage these highly specialized and advanced professionalcourses. As the foundational step in this direction Multidisciplinary Centrefor Advanced Research & Studies, Jamia Millia Islamia has recentlyintroduced a one-year Post-Graduate Diploma in Molecular Diagnostics. This willbe the "first-of-its-kind" diploma course introduced by any Central Universityin India. The course is intended to help students to get early employmentopportunities in the healthcare sector, research institutes as well as inindustry – where the demand is surplus. The online application form for thediploma course can be obtained from the official website of Jamia MilliaIslamia: www.jamiacoe.in. There is an urgent need for these advanced skilldevelopment courses in the country. It is thus advisable that the education policymakersand the government should contemplate on introducing more such courses.
Dr. Tanveer Ahmad is Assistant Professor, MultidisciplinaryCenter for Advanced Research and Studies, Jamia Millia Islamia