Molecular Diagnostics – A Path To Improved Healthcare

In very simple terms, Molecular diagnostics is the study of biomolecules to diagnose a disease. Biomolecules refers to the basic molecules which are building blocks of our body – namely our genes and proteins. And thus, we arrive at a more scientific definition – “Molecular diagnostics refers to a set of techniques which analyse the genome and the proteome of an individual to arrive at a medical diagnosis”, wherein, genome refers to our genes and proteome refers to the proteins in our body. Over the years, molecular diagnostics has developed from being a tool used only for the diagnosis of rare diseases, to being used as a common diagnostic practice. Currently, molecular techniques are being used for the diagnosis of infectious diseases, cancers, prenatal screenings, autoimmune disorders and a lot more.

In a country like India, with such a high birth rate, we are continuously at the risk of genetic disorders in infants. It is imperative that we develop molecular diagnostic tools to identify such disorders at an early stage so that corrective measures can be taken without much delay. This brings us to the first type of Molecular Diagnostic tools available in India – Prenatal Screening

Prenatal Screening

Prenatal screening is one of the most important steps to be taken towards early healthcare. A recent development in this field is the introduction of NIPT, or non-invasive prenatal testing. This innovation is of particular importance because it eliminates the risks to the mother and the foetus associated with older invasive technology like chorionic villi sampling or amniocentesis. It is also found to be a lot more accurate in detecting possible disorders.

But unfortunately, NIPT faces two major roadblocks – cost and accessibility. Being a fairly new technique, it is not conducted in all diagnostic labs and is limited to labs in cities. It is also a lot less affordable than conventional screening techniques.

Prenatal screening caters to the testing of the unborn foetus. But what if we want to test for diseases at later stages of life? Molecular diagnostics can be very effective in confirming the presence of diseases based on the identification of molecular markers.

Molecular tools for the diagnosis of genetic disorders

Our country suffers from a high incidence of genetic disorders and unfortunately, a lot of these disorders go unnoticed and untreated for a long time. More importantly, these diseases are also often misdiagnosed. Molecular diagnostics using genetic testing can go a very long way in preventing such accidents and ensuring the patient is given correct and timely treatment.

At this point, it is important to understand that genetic testing is not limited to the diagnosis of inherited disorders. It is also extremely useful for diagnosing chronic illnesses such as cancer, which could have non-inherited roots. Let’s talk a bit more about cancer diagnostics. Cancer is an extremely evasive disease, it is very difficult to confirm in the early stages and the more the diagnostics and treatment is prolonged, the more life-threatening it gets. With the help of genetic techniques, we can very easily confirm cancers at even early stages and thus can help save a patient’s life. Then why is molecular diagnostics not employed more often? One reason is the lack of accessibility and cost. The other reason is the gaps in science. We are yet to understand and develop techniques which can help us correctly identify cancers in the early stages.

Molecular diagnostics also finds intense application in the field of Precision Medicine. Precision medicine is a practice where therapy for diseases is administered in a patient-specific manner, rather than in a generalized fashion. For example, it has been noted that a few patients suffering from cardiovascular diseases tend to be resistant to certain types of antiplatelet therapy and this leads to recurrence in vascular events despite ongoing treatment. In this case, precision medicine can play a very important role. Using tools of molecular diagnostics, one can easily identify the markers of such resistance and the patient can be put on some other antiplatelet therapy. Such practices are now widely used for treating other disorders too – like cancer, obesity, etc.

Now that we have covered some of the major aspects of where India stands in terms of Molecular Diagnostics for genetic disorders and chronic illnesses, let’s move on to another facet of molecular diagnostics – testing for infectious diseases.

Testing for Infectious diseases

Unlike chronic and genetic illnesses, testing for infectious diseases with the help of microbiology is quite well developed. Then why do we need molecular tools? The answer is simple – Molecular Diagnostics saves valuable time which would have otherwise been lost in performing the laborious microbiological techniques. Also, with the looming danger of antibiotic resistance, it would be of great help if we could correctly identify pathogens and provide specific treatment, rather than relying on broad-spectrum antibiotics.

Molecular diagnostics is the need of the hour for India. Due to the widespread incidence of infectious diseases, rapid diagnosis can help in administering correct treatment. Several efforts are being made in India to improve the techniques used for molecular diagnostics and for increasing its accessibility. For instance, Abbott Laboratories is collaborating with NACO India to improve viral load testing for the diagnosis of AIDS.

Rise of new technology

It is important that we constantly innovate beyond the boundaries of the existing technology to improve the quality and efficiency of diagnosis.

What next for India in Molecular Diagnosis?

India faces numerous challenges in the popularization of molecular diagnosis:

- Lack of accessibility

- Lack of awareness

- High expense

In order to shift the diagnostic setting in India from the conventional methods to molecular techniques, we must address each of the above-mentioned issues. 

Molecular diagnosis can be the key to a better lifestyle and healthier living. As a country, we have a long way to go, but thanks to the numerous healthcare institutions and research laboratories working on developing new tools, molecular diagnosis is an achievable and realistic goal. 

Dr S Jhaveri

Guest Author The author is Managing Director, Biomall.in