Before advanced genome sequencing as well as other panomics technologies have become possible, the cornerstone of medicine was the concept of a “typical patient” (PMID: 27929525). The previously existing guidelines for treatment or administering point of care did not take into account unique and personal variations that exist in each patient or among cohorts of patients at the level of genetic, metabolic and/or other clinical biomarkers. Yet the course of many common diseases as well as rare diseases can vary depending on multiple factors, and even inheritable diseases / genetic diseases and these can vary in severity. Though there were certain individualized approaches used in limited cases, for example in blood transfusion, transplant medicine or antibiotic prescription, the medical treatment as a whole was targeted at a hypothetical “average” population or a general population with average response to a treatment. For instance, as the levels of resistance to antibiotics and chemotherapeutic agents were increasing, so was the need for a novel way to conduct molecular diagnosis, treatment and drug discovery.
Since the year 2000, a lot of progress has been made in a number of biomedical disciplines, such as genetics, pharmaceutical sciences, biochemistry, oncology, and so on. Those breakthroughs eventually led to a new concept in healthcare – precision medicine, also known as personalized medicine.
What is precision medicine / personalized medicine ?
Precision medicine, also known as personalized medicine, is a new approach in health care which takes into account multiple factors in order to tailor more accurate diagnoses as well as more effective treatments and prevention measures to certain cohorts of patients or even to an individual patient (PMID: 27929525). The healthcare providers and other specialists consider factors such as genetic variation in a cohort of patients or even in an individual patient, their lifestyle as well as other environmental factors, in deciding the most effective strategy in administering point of care. As a rule, this approach is used to:
- Predict risks of disease development;
- Select most effective as well as cost effective treatment, including prescribing more effective medications with no or less side effects;
- Develop and customize more effective measures for disease prevention in the population;
- Abrogate or minimize disease progression;
- Better identify and improve detection of causative agents of diseases;
- Find better clinical biomarkers that can help in disease diagnosis and treatment;
- Minimize failure, reduce time as well as trial and error inefficiencies that are most common in inflating healthcare costs and impair patient care.
While precision medicine / personalized medicine uses data from many branches of biomedical science, it was the emergence of panomics technologies such as modern mass parallel sequencing technologies that led to the rapid growth and success of this approach we see today.
What is the difference between precision medicine and personalized medicine ?
Basically, personalized medicine and precision medicine are interchangeable terms (PMID: 27929525). At present, precision medicine is used more often. The exact term “personalized medicine” could be considered misleading since treatments are not solely discovered and created only just for an individual patient, however, the aim of the precision medicine approach is to use various biomedical data to stratify the cohorts of patients, forming smaller groups who share common clinical biomarkers and clinical manifestation, and who would benefit from certain disease diagnosis, unique disease treatment and unique disease prevention therapies. Such approach could inevitably and significantly help an individual patient; hence, administering personalized medicine approaches towards the point of care of such individual patient. Though the therapy is still not unique or individualized in this case, the patient would still benefit and would not suffer from rounds of unsuccessful disease diagnosis, disease treatment as well as disease prevention.
How complex is the precision medicine / personalized medicine approach ?
While we usually associate precision medicine / personalized medicine with modern molecular panomics technologies, there are multiple disciplines of biomedical sciences involved, and some examples are:
Basic clinical research: This usually refers to blood tests, biopsies and analysis of different biological fluids and tissues. This type of research is always needed to elucidate problems that a patient or a cohort of patients may have.
Fundamental research: This refers to new discoveries by various disciplines to provide fundamental insights in many areas of biomedical sciences.
Population science: This provides information on different cohorts of people, their lifestyles and traditions that may have an impact on their health: disease risk and disease prevention.
Drug discovery/drug trials: This provides new insights into the mechanisms of action of different agents and how they may benefit people’s health.
Digital Health: Currently many people wear fitness trackers that monitor one’s heart rate and physical activity. There are also digital devices that people use to monitor in real time glucose levels in diabetes. The data from these devices can be useful for research and selecting treatments.
OMICS sciences / approaches: This refers to a number of methods that allow gathering huge volumes of data concerning the activities of genes, proteins, and other molecules generated by the use of panomics technologies.
Bioinformatics: This is a discipline that deals with analysis of considerable amounts of data generated by different branches of research methods mentioned above and with the help of using computational algorithms.
What is the meaning of OMICS ?
The OMICS is a relatively new and cutting edge science which maximizes the use of modern high throughput panomics technologies. In fact, OMICS has significantly contributed to the development and progress of precision medicine / personalized medicine initiatives. There are many examples of OMICS and some include:
Genomics: This is a study of the structure, function and evolution of genomes. In order to study the function of a genome in detail, high throughput panomics techniques are needed, such as next generation sequencing (NGS). For genomics, all genes present in the cell are sequenced, annotated and analyzed in detail; and clinical conclusions arise from a subset of genes that show concordance of unique clinical findings among certain cohorts of patients.
Pharmacogenomics / Pharmacogenetics: This is the study of how certain genes and gene variants are linked to responses to drugs and drug metabolism. Analysis of the genome and transcriptome activity could also help in identifying new drug targets as well as in more effective drug discovery / treatment.
Proteomics: This is a study of the proteome: all the proteins present in a cell or in an organism. Current panomics technologies make possible to track changes in the proteome in response to various exposures in health and disease.
Transcriptomics: With the emergence of new technologies that allow the sequencing of RNA molecules, it has become possible to evaluate the transcriptome of the cells or tissues. The transcriptome in this case means all the sequences of transcripts (RNA molecules) present in the cell at a particular point of time or in response to a particular factor. Transcriptomics can also be used to unravel the function of non-coding RNA molecules that play crucial roles in the regulation of genome activity. Clinical transcriptomics can be used in many applications such as in diagnosis and treatment of cancers, heart diseases, drug discovery, and so on.
Epigenomics: Genome activity is tightly regulated by several mechanisms, including by non-coding RNAs mentioned above, as well as by modifications of the DNA and chromatin structure of chromosomes. Epigenomics analyze these DNA regulatory mechanisms thereby providing information on how the genome functions and with tools to detect pathologies.
Metabolomics: There is constant chemical daily activity taking place in our bodies when we breathe, eat, work, sleep and so on. Some substances are being made, while others are being destroyed. Metabolomics aims at taking “snapshots” of these processes, and analyzing multiple molecules known as metabolites generated by chemical reactions taking place in our bodies.
Microbiomics: It is becoming increasingly clear that we have considerable communities of bacteria, funguses and viruses living inside our bodies which can influence our well being and risk for diseases. Human microbiomes tend to shift in response to changes in our diet and lifestyles, and play many important roles. That is why it is important to analyze whole microbial communities instead of individual pathogens in order to understand why we get sick. Studies of microorganisms inside our bodies involve both conventional microbiological methods as well as modern metagenomic panomics technologies.
Why is bioinformatics so important for precision medicine / personalized medicine ?
When the shift has been made from analyzing single genes, proteins, or microorganisms to analyzing whole genomes and proteomes, large volumes of data are generated. To be useful, data needs interpretation: genes need to be annotated; proteins need to be identified, and so forth. This is made possible with new bioinformatics approaches that allow such analysis. The development of computational algorithms helps to identify clinical biomolecules / biomarkers, as well as to establish models of interactions among them, with relevance to health and disease. Bioinformatics creates computational pipelines that transform raw data from a sequencer or other tool into data one can use which significantly shortens the time for analysis and provides clinical biomarkers that can be used directly in precision medicine / personalized medicine applications. Digital methods also allow more flexibility and a greater availability of biomedical data which decrease the likelihood of human errors, leading to more accurate and reliable results in precision medicine / personalized medicine applications.
What are examples of how precision medicine / personalized medicine can be applied ?
Cancer diagnostics, monitoring and treatment: Since the launch of the precision medicine initiative in the United States by the President Barack Obama in 2015, various approaches towards cancer diagnostics, monitoring and therapeutics were developed (PMID: 28078184, 30202637, 31462507). It was found that cancers / tumors are highly variable, and it is likely that there can be no two completely identical tumors in existence. The discovery of circulating tumor DNA in the blood, known as cfDNA, has also made possible the use of liquid biopsies coupled with genetic analysis to successfully diagnose, monitor and treat cancer.
By obtaining and analyzing the genetic profiles of cancers / tumors from individual cancer patients, with precision medicine / personalized medicine, it is possible to establish:
- cohorts of patients who are likely more sensitive to and successful with certain therapies;
- more accurate molecular diagnosis, tumor gradation and classification, and patient prognosis;
- contraindicated therapies (therapies indicated as potentially being incompatible with each other);
- justification for the effective use of off-label drugs, especially for treating late-stage cancers;
- more precise and highly sensitive monitoring of tumor / cancer relapse.
Diabetes diagnosis, monitoring and treatment: Diabetes is a condition that often requires lifelong treatment. By using precision medicine / personalized medicine strategies, it is now possible to improve the diagnosis and treatment outcomes considerably in certain groups of diabetic patients (PMID: 27926886). It was found that there is more to diabetes than simple classification into type 1 and type 2. There are rare forms of monogenic diabetes, that is, when the disease develops due to a mutation in a single gene, such as GCK, HNF1A, HNF1B, ABCC8 and INSR. Analyses of these genes for mutations are often undertaken in the molecular diagnosis of childhood diabetes.
As different types of diabetes require different treatment plans, timely diagnosis is crucial. Precision medicine / personalized medicine has brought benefits for patients with other forms of diabetes other than types 1 and 2 that can develop due to genetic, metabolic, and environmental factors. For instance, it is possible to predict the risk of developing the condition based on certain mutations in a number of genes. Genetic screening can also help find patients that can be resistant to certain treatments: for example, patients who have intolerance to metformin, a common agent prescribed to patients with diabetes and pre-diabetic conditions.
Neurodegenerative diseases: Dementia and other forms of neurodegenerative diseases affect about 5 to 8% of the global population aged 60 years and older. The applications of precision medicine / personalized medicine initiatives have greatly advanced our understanding, diagnosis, treatment, monitoring and prevention of Alzheimer’s disease and Parkinson’s disease (PMID: 30190701).
Besides the above examples, precision medicine / personalized medicine can also be used for:
- molecular diagnosis of orphan and rare diseases / genetic diseases;
- clinical metabolomics;
- prenatal testing for genetic disorders / genetic diseases;
- pharmacogenomic testing / pharmacogenetic testing;
- clinical metagenomics / clinical microbiomics;
- diagnosis and treatment of heart diseases (PMID: 29700074);
- and so on.
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