Precision Medicine is a concept and practice that aims to treat patients after factoring their unique genetic, racial, ethnic and family traits. These traits make their reaction to disease and drugs – unique, so the same drug will not have the same effect on all patients. Subgroups of patients are created and different treatments meted out to them. This increases the efficacy of treatment. Precision Medicine is made up of multiple concepts and practices. Further, it is getting a boost from modern-day technologies like AI, ML, Big Data and Analytics. In this article, we will learn more.
Traditional Medicine (TM), or native medicine has dominated treatment of diseases, around the world, for hundreds of centuries. This includes Ayurveda, Yunani, native Chinese medicine, etc. These were the only source of treatment for the larger population throughout history. The only problem with Traditional Medicine is that it relies on word-of-mouth testimonials and not reliable scientific evidence.
The 18th, 19th and 20th centuries aimed at overcoming this drawback of traditional medicine. It aimed at creating, providing and relying on scientific evidence around treatments, that is, around the efficacy of a drug or therapy. This has become increasingly popular in the last 100 years or so, and people have been ditching traditional medicine for Evidence Based Medicine (EBM), in the hope that it will guarantee cure, and freedom from disease.
The problem with EBM is that, it takes a ‘one size fits all approach’. That, all patients suffering from a particular disease or its symptoms should be curable using the same drug, or set of drugs. When in reality, what happens is that some patients show positive outcomes to a drug or therapy, some show no outcome at all, while some show negative outcome. The medical and scientific communities began to appreciate that this approach will not work. There are unique genetic and environmental factors that decide how a disease develops (or does not develop) in a particular patient, and which drug may work (or not work) in the person.
This led to the concept of personalized medicine. Personalized medicine does not mean, each person gets a unique medicine. It is just that, each person and their interaction with disease or medication are treated uniquely. As Sir William Osler put it, “what is important is what patient a disease has, and not what disease a patient has”. So, around the late 1980s, the medical and scientific community started talking about concepts like stratified medicine, personalized medicine, individualized medicine, preventive medicine, predictive medicine, and participatory medicine. These communities reiterated the understanding that one’s genes play a huge part in understanding a disease and then choosing the right treatment. For instance, understanding genetic factors can be crucial in treatments performed by a gastroenterology surgeon or a cardiovascular surgeon.
In 1988, the US National Academy of Sciences along with several members of the scientific and medical community proposed a project to sequence the human genome. DNA Sequencing is a process by which the exact order of As, Cs, Gs and Ts that make up segments of human DNA (or genome) are determined. The project involved various donors and volunteers who gave their DNA, as well as doctors, scientists and researchers who worked on the DNA, to derive the sequence. This landmark project when completed in 2003 was a watershed moment for the medical and scientific communities. It gave fillip to concepts like Precision Medicine.
On January 20, 2015, President Barack Obama of the US launched the Precision Medicine Initiative. The initiative aimed at understanding individual variations and its effect on the onset, progression, prevention and treatment of disease. This was a research initiative aimed at leveraging advances in genomics, newer methods of managing and analysing large data-sets of medical information (while protecting privacy), and health infotech, to accelerate discoveries in the field of biomedicine. The initiative also called upon volunteers to contribute their health data. Such data would help improve treatment outcomes, create new treatments, and act as a catalyst in a new-era of data-driven, precise, medical treatments.
Precision Medicine (PM) is a concept that often touts the motto “The right drug for the right patient at the right time”. For this goal to work, it needs two clear objectives. One is that, patients and the disease must be classified into sub-groups (called disease subtyping) where-in each subgroup shares some common biological traits that can be identified and exploited for effective treatment and better outcome. Secondly, once these subgroups are created, there should be targeted therapies available to treat each one of them.
While these may look like difficult objectives, they have been made possible, and easier, due to rapid strides in various ‘omics’, targeted therapies, functional PM models, comprehensive EHRs (electronic health records), and Big Data analytics, in the last twenty years. We will examine some of these topics below.
A genome is an organism’s complete DNA set (which includes DNA, mRNA and genes) and the 3D, double-helix, hierarchical and structural configuration. So, genomics is the study of an organism’s genome and how that information is applied. Functional genomics a combination of DNA sequencing methods, bioinformatics and recombinant DNA, which are used to assemble, sequence, and analyse the structure as well as function of genomes. It is one of the disciplines under molecular biology or microbiology.
Unlike ‘Genetics’ which merely aims at studying unique or individual genes, and their role in inheritance, ‘Genomics’ aims at collectively quantifying and characterizing all of the organism’s genes, their interrelations, and their effect on the organism. The study of Genomics triggered newer ‘omics’ that are playing a role in Precision Medicine.
Some of them are:
Molecular Diagnostics, also called molecular pathology is a field of medicine in which, the DNA and RNA of an organism are extracted and their sequence analysed to identify red flags that point to the possibility of a specific disease emerging in a few years. Basically, it’s a collection of techniques to analyse biological markers in the proteome and genome and their protein expression as genes. Finally, it involves applying molecular biology to medical testing. This way, molecular diagnostics enhances the possibility of personalised medicine and precision medicine.
Molecular diagnostic (MD) tests are conducted to note if the patient has genetic mutations associated with a specific disease, and whether the mutation is acquired or inherited. This helps identify the risk of developing that disease. Accordingly, checkups can be done at regular intervals in the person’s life so that if the disease is really developing, then it can be detected at an early stage and treated effectively.
Examples include:
Genetic mutations can turn normal, healthy cells into cancer cells. But if these mutations are targeted and prevented, then one can prevent the onset of cancer. That is precisely what Targeted Therapy does. Targeted therapies target the mutations that turn normal cells into cancerous cells. At the same time, these therapies spare the healthy cells. This is unlike radiation or chemotherapy where a small number of healthy cells also get destroyed along with the cancer cells.
Two of the most common targeted therapies include:
Other therapies include angiogenesis inhibitors, proteasome inhibitors and signal transduction inhibitors.
Cancers that are being cured today using targeted therapies include some blood-cancers, some brain cancers, bone and soft-tissue cancers, cancers in the head, neck, lungs and skin, thyroid cancer, and cancers of the digestive, reproductive and urinary systems. In addition, advancements in precision medicine can significantly aid specialists like a gastroenterology surgeon in managing gastrointestinal diseases more effectively.
Precision medicine is also vital for cardiovascular treatments. For instance, a cardiovascular surgeon can utilize genetic information to tailor heart valve surgery in Salem and other complex procedures, improving patient outcomes.
Precision medicine tailors medical treatments to individual patients based on their unique genetic makeup, family history, and other factors, aiming for better outcomes.
Genomics involves studying an organism’s complete DNA to understand how genes influence disease development and response to treatment, enabling personalized healthcare approaches.
Molecular diagnostics analyzes DNA and RNA to detect genetic markers indicating disease risks, allowing for early detection and personalized treatment strategies.
Targeted therapies pinpoint specific genetic mutations driving cancer growth, sparing healthy cells and leading to more effective and less toxic treatments.
Chennai’s quaternary care facilities leverage cutting-edge technologies like precision medicine and robot-assisted surgery to provide highly specialized and personalized healthcare services, setting new standards for medical excellence.
Kauvery Hospital is globally known for its multidisciplinary services at all its Centers of Excellence, and for its comprehensive, Avant-Grade technology, especially in diagnostics and remedial care in heart diseases, transplantation, vascular and neurosciences medicine. Located in the heart of Trichy (Tennur, Royal Road and Alexandria Road (Cantonment), Chennai (Alwarpet & Vadapalani), Hosur, Salem, Tirunelveli and Bengaluru, the hospital also renders adult and pediatric trauma care.
Chennai Alwarpet – 044 4000 6000 • Chennai Vadapalani – 044 4000 6000 • Trichy – Cantonment – 0431 4077777 • Trichy – Heartcity – 0431 4003500 • Trichy – Tennur – 0431 4022555 • Hosur – 04344 272727 • Salem – 0427 2677777 • Tirunelveli – 0462 4006000 • Bengaluru – 080 6801 6801
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