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How important is basic science research in the era of personalized medicine?

How important is basic science research in the era of personalized medicine?

The current era of medicine is witnessing a drastic shift in how the overall health care is perceived and practiced. From the ‘one-size-fits-all’ approach that has been continuing in the field of medicine for centuries, the research and trend are shifting towards personalized treatments. The personalized medicine (PM), interchangeably called precision medicine, is based on genetic make-up of an individual and it relies on technologies like gene sequencing, cloud storage, and artificial intelligence. So the question arises: How important is basic science research in the era of personalized medicine? Let us explore this in detail. 

 

Personalized medicine: Why it is important

The aim of personalized medicine is to leverage the huge health and genetic data about an individual, developing a holistic view of an individual patient’s personal medical needs, and design better targeted therapies. The approach improves the process for differential diagnosis, helping clinicians to abate several of the inefficiencies of the classical clinical method, such as false positives and negatives, unnecessary treatments and over- or under-medications. The practice of ‘Personalized Medicine,’ if implemented successfully, will not only facilitate a more predictive and preventive healthcare, but might also bring down the healthcare costs. Considering the huge potential impact of the practice, the biomedical researches are taking individual variability into account while designing the treatment plan and physicians as well as policy makers are taking huge interest in ‘Precision or Personalised medicines’.

 

Basic research: The pillar on which ‘personalised-medicines’ is standing

The traditional drug development process and treatment modality was driven by the need for therapies targeting an entire population. But considering an individual as a unique system and having a personalized approach of utilizing information about a person’s genetic makeup and the nurturing environment to understand the cause and optimum remedy of a disease seems a more pragmatic approach. In fact, Medical practitioners of different cultures have always recognized the association of specific diseases within families and ethnicities, varying responses to medications, and diverse manifestations of a single pathology. Basic research in the field of biomedical science bridges this gap between two ideologies.

Personalized medicine requires the researchers to explore the factors like genetic and environmental that influence an individual’s response to a particular treatment and basic research provides the tool to achieve this goal. The successful completion of the mapping of the human genome has revealed that although the genetic makeup of human race is 99.1% identical, 0.9% variability in inter-individual genetic level leads to the vast variability within the human species. Especially, two of the most important discoveries in basic sciences that paved the way of establishing personalized medicine in all its practicality. These are single nucleotide polymorphism (SNP) genotyping and microarray/biochips. SNPs are variability in individual nucleotide level in DNA which results in altered identity or expression of one or more number of proteins. Such alterations are not only often linked to various diseases, but also affects a person’s responsiveness to a specific drug(s). As identifying those SNPs and analyzing the data from each patient’s genome is extremely important to design a unique therapy for that person, the relevance of basic research in fields like genetics, cell biology, and system biology is unparalleled.

 

How basic research has helped the advancement of personalized medicine

Basic biomedical research works towards untangling the puzzle of biological processes and is usually motivated by scientific curiosity. The discovery of effective new therapies often starts in a lab. Pursuits to understand the function of molecules, cells, or whole organisms provide valuable information about disease mechanisms or identify targets for treatment of the disease. Thus, although explored in a lab-based setup and generally not having the primary goal of curing a disease, basic science is nonetheless essential for achieving success in PM.

For example, in one of the celebrated success stories of PM is the use of the Her2/neu gene as a predictor and deciding factor of treatment modality of breast cancer. Basic research revealed that Her2/neu codes for a protein receptor that is an important player in the signal transduction pathways related to cell growth and differentiation. It was also found that in about 15-20% of breast cancer patients, Her2/neu was expressed at a much higher level and tumors of such patients were named as Her2-positive. Fundamental research reported a drug Herceptin regulating the uncontrolled cell signaling by binding to the Her2 receptors. Translating this knowledge to create a PM approach of treatment, physicians prescribe Herceptin only to women with Her2-positive tumors as clinical studies reported studies have shown that the drug is more effective in controlling Her2-positive tumors than Her2-negative tumors. Similarly, genomic-adjusted radiation dose is considered as a mean of personalizing the radiation dose in radiotherapy of cancer patients. There are several instances of channelizing scientific efforts to identify the gene(s) or the genetic polymorphism(s) that influence the disease conditions and can be explored as potential targets of PM.

In another exciting approach of personalizing the treatment, the mode of targeted drug delivery is being explored. Since multiple cell types and their receptors vary between individuals, the ability of the carrier of the drug to target specific cell type or receptor would personalize the treatment to a great extent. To this aim, scientists have designed a self-assembling small interfering RNA carrier that can be tailored to target any cell receptor.

 

The future of basic research in the era of personalized medicine

In the shifted paradigm of healthcare, it is the findings in basic science that has helped unravel the underpinning details of the biological processes. Undoubtedly, basic research holds a pivotal position in the realm of personalized medicine. As it continuously enables improved speed and accuracy in sequencing techniques, instead of large-scale classical clinical trials, researchers are aiming to leverage the massive data about an individual to tailor the unique therapeutic approach. These genomic data, when integrated into the clinical workflow, derive deeper insights into genetic and chronic diseases and large-scale population genome sequencing contributes to the initiatives of personalized medicines. It is the findings in basic science that has helped unravel the underpinning details of the biological processes. For example, development of protein-based diagnostics and therapeutics, ushered researchers and clinicians in the rapid development of the subject of personalized medicine.

The potential of basic research influencing clinical practice is further augmented by the advancement of Omics Technologies. Basic research enables the availability of vast data regarding the patient that are used by the researchers in framing new hypotheses of clinical relevance. In near future, in the realm of PM, patients could be assessed from a holistic perspective that considers genes, proteins, gut microbes, metabolic markers, etc. Such an approach can begin even before birth of an individual and enable practitioners to foresee the probability of occurrence of a certain disease and come up with the best possible treatment option.

Thus, successful collaboration between basic scientists and clinical researchers as well as the researchers in the fields of social science or behavioral science would help in realizing the true potential of personalized treatment.

 

Related reading:

Basic research versus applied science: Which research would you fund?

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