Dinesh Chauhan, CEO, CORE Diagnostics highlights that molecular diagnostics has transformed the diagnostics industry vastly, leading to revolutionising the way health care services are provided
Diagnostics is a primary element of our healthcare system. Specifically, during the COVID-19 pandemic, the need for a smooth functioning system was highlighted. This is where diagnostics came to the rescue. From a vast range of genetic tests that help notify personalised cancer treatment to microbial culture for recognising the right antibiotic to combating an infection, diagnostics provides critical insights at every stage of medical care be it prevention, diagnosis, detection, treatment, and successful management of conditions. Molecular diagnostics has transformed the diagnostics industry vastly, leading to revolutionising the way health care services are provided.
According to a report by Annas GJ, Precision medicine (PM) which is considered to be the right drug at the right time to the right patient is becoming increasingly popular. The US national academy of sciences used the term precision medicine in 2011 and defined it as an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.
Every individual is unique—and so is their biology. How one develops a disease and how well a given treatment works varies from one individual to another. With the use of precision medicine in diagnostics, clinicians use a combination of genomic data, health records, lab tests, and other related data from patients which help in customising the care given to the patient as per his/her needs. This is how providing the right treatment to the right patient at the right time is achieved.
The use of precision medicine today:
India with a population of 1.3 billion and its disease burden offers a unique opportunity for the use of precision medicine. Also, the availability of numerous applications concerning the process of precision medicine has allowed clinicians to tackle various problems based on newer more detailed models. Laboratories today have seen a boost in the use of molecular techniques in diagnosis and monitoring disease conditions. Various techniques like plasmid profiling, polymerase chain reaction (PCR), and micro-arrays have been used increasingly.
The implementation of genomic studies to create a targeted diagnosis helps in predicting the probabilities of multiple diseases. We are aware of how cancer, has been responsible for causing the loss of lives of many but the use of specifically targeted treatment towards these mutated genes helps vastly in determining the disease.
Molecular diagnostics- a step closer to precision medicine:
In the last two decades, the persistent progress, efforts, and application of molecular diagnostic techniques have been able to open new arenas in the diagnosis of not only microbial diseases but also other diseases and disorders like neurodegenerative disorders, as well as cancers and other genetic diseases. The genetic information required to deliver precision health can come from a range of clinical diagnostic tests. Advances in molecular in vitro diagnostic assays (IVD assays) have been a key driver for better genetic information, including increased precision, faster turnarounds, and reduced costs. The various genetic variants of diseases like those of cancer, Alzheimer’s, Parkinson’s disease, etc. have been identified and characterized, which may be extremely useful in the management of the patients diagnosed with such diseases.
Progress made in precision medicine:
With newer technologies & techniques such as next-generation sequencing, the time and cost of curing a disease have reduced drastically. Digitisation of the healthcare industry with wearable devices, EHRs, and health information systems has made large amounts of patient data available. This technology has been particularly evident in the field of oncology in characterising the disease and making the treatment more individualised. With the use of Precision Medicine, by identifying the individual at risk at the earliest and utilising personalised preventive measures may prevent or delay the risk factor or the spread of the disease. This is what preventive medicine strives to do.
Some of the challenges faced by precision medicine:
Precision medicine is still a growing field. Many technologies that will be needed for precision medicine are still in the early stages of development. For example, researchers still need new ways to standardise the collection of data from volunteers around the country. They will also need databases to store such large amounts of patient data efficiently. Cost is another issue with precision medicine. The precision medicine Initiative itself costs many millions of dollars, and the ongoing initiative requires Congress to approve funding over multiple years. Sequencing large amounts of DNA is rather expensive to carry out. Additionally, drugs developed to target a person’s genetic or molecular characteristics are likely to be expensive.
Conclusion:
In the years ahead of us, molecular diagnostics will definitely continue to be of critical importance to public health globally. Molecular diagnostic offers physicians as well clinicians, critical information based on the early exploration of pathogens and subtle changes in patients’ genes and their chromosomes, allowing more time for earlier diagnosis, selection of appropriate therapies, and monitoring of the progression of the disease. However, the implementation of Precision Medicine is, of course, challenging. Its implementation will require collaboration across fields like research, healthcare, funding agencies as well as academic institutes, private hospitals, and most importantly, the proactive involvement of the physicians. That is how the actual use of this technology will be highlighted and its use made more accessible to all.
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