Every human is different from another. Even in some cases, they look similar, but their genetic or molecular profile differs. So, treating every person (with a similar disease) in the same way and with similar drugs may not provide with the similar results. Even if some cases provide success, some may lead to complications. This is all due to the change in the human genetic profiles. The solution for it is to develop a medical paradigm that proposes the customization of health care, with medical choices, practices, or products being tailored to the individual patient. This new approach towards health care is called precision medicine.
What is precision medicine?
According to the National Institute of Health (NIH), “Precision medicine (PM) is an emerging strategy for disease treatment and prevention that brings into account specific variability in genes, environment, and lifestyle for each person.”
In this medical model, people are classified into subpopulations based on their susceptibility to a particular disease or response to a specific treatment. Later, treatment and drug delivery are said to be given accordingly. Also, in some individual cases, it can extend beyond treatment selection to also cover creating unique medical products for particular individuals. By using this therapeutic approach, doctors and researchers can predict which treatment and prevention strategies work more accurate for a particular disease in a particular group of people. It can also be termed as stratified medicine and often personalized medicine interchangeably.
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How did it develop?
Doctors have faced many complications in providing treatment for the human illness that works well for one person and contributes side effects for another one. Researchers have discovered hundreds of genes that harbor variations contributing to human disease, identified genetic variability in patient’s responses to dozens of treatments, and begun to target the molecular causes of some diseases. Also, scientists are developing and using diagnostic tests based on genetics or other molecular mechanisms to predict patients’ responses to targeted therapy better.
The challenge is to achieve the benefits of this work to patients. So, there is a need to develop a new medical model, that provides perfect test results and lead to real health improvements. So, NIH in association with food and drug administration (FDA) has shared a personalized medicine to develop the scientific and regulatory structure needed to support this growth. Together, they have focused on the best ways to develop new treatments and optimize prescribing by providing patients with the right drug with the right dose at the right time. To make progress, the NIH and the FDA will spend in advancing translational and regulatory science, better determine regulatory pathways for coordinated approval of co developed diagnostics and therapeutics, develop risk-based approaches for appropriate review of diagnostics to more precisely assess their validity and clinical utility, and make information about tests readily available. To achieve their goals, the team has to overcome some myriad obstacles. Moving from theory to clinical use requires translational, basic, and regulatory science. On the basic-science front, investigations are identifying many genetic variations underlying the hazards of both rare and common diseases. These newly discovered proteins, genes, and pathways can represent significant new drug targets, but presently, there is insufficient data of a downstream market to entice the private sector to examine most of them. To fulfill that void, the NIH and the FDA will produce a more integrated pathway that combines all the steps between the identification of a potential therapeutic target by academic researchers and the support of therapy for clinical use. This trail will include NIH-supported centers where researchers can screen thousands of chemicals to spot potential drug candidates, as well as public–private companies to help move candidate compounds into commercial development. NIH has made its first step by implementing Therapeutics for Rare and Neglected Diseases (TRND) program. With an open atmosphere, permitting the involvement of all the world’s top specialists in a given disease, the TRND program will allow certain promising compounds to be taken through the preclinical development phase a time-consuming, high-risk condition that pharmaceutical firms call “the valley of death.” Besides quickening the development of drugs to treat rare and neglected illnesses, the TRND program may also help to identify molecularly different subtypes of some common diseases. They may lead to new therapeutic opportunities, either through the development of targeted drugs or the salvaging of dropped or failed drugs by identifying subgroups of patients likely to profit from them. Another important step will be increasing efforts to develop tissue banks containing specimens along with information connecting them to clinical results. Such a source will allow for a much broader evaluation of the clinical importance of genetic variation across a range of conditions. Later, due to its accurate and precise test results, PM has been applied in many areas of medical research and is still growing.
Why are the governments still investing in it?
Cancer is one of the principal problems worldwide. Many people around the globe are said to be suffering from various types of cancer. Women were erroneously reported they were negative for a mutation presenting a very high risk of breast cancer; an ovarian cancer test, sold before the achievement of an NIH-funded study, 2 gave false readings that reportedly led to the accidental removal of women’s ovaries. In the year 2015, the then president Barack Obama announced a research effort focusing on bringing PM too many aspects of health care in the name of Precision Medicine Initiative (PMI). As PM is a developing field of medicine, it has both short-term and long-term goals. The short-term goals include expanding precision medicine in the area of cancer research. Researchers at the NCI hope to use this approach to find new, more effective treatments for various kinds of cancer-based on increased knowledge of the genetics and biology of the disease. Fortunately, it has provided accurate test results through diagnosis. This made it very popular and led the governments to turn towards it. Cost is also an issue with PM. The PM Initiative itself will cost many millions of dollars, and the ongoing initiative will need Congress to approve funding over multiple years. Innovations such as sequencing large amounts of DNA are still costly to carry out, although the cost of sequencing is decreasing instantly. Additionally, drugs that are produced to target a person’s genetic or molecular features are likely to be overpriced. Reimbursement from 3rd party payers (such as private insurance corporations) for these targeted drugs is also likely to become an issue. So, it cannot be born by a single government. This made USA take support from its neighboring countries to invest in this PM. This led PMI to achieve its long-term goals, which focuses on bringing PM to all fields of health care and health on a large scale. Genomics England, a company controlled by the United Kingdom Department of Health, was founded in July 2013 to order the genome of 100,000 British residents and has been contributed £300 million to accomplish this task. It appears efforts to bring PM to fruition are well on their way. So that, this approach can be utilized by the people in all parts of the world.
What technologies are powering it?
The advancements that came in medicine are now propelling the field of PM. Major Investments in basic science have created an opportunity for significant progress in clinical medicine.
- In this design, diagnostic testing is often used for selecting appropriate and optimal treatments based on the circumstances of a patient’s genetic content or other molecular/cellular analysis.
- Genome sequencing can also be used to find the way in which DNA is formed.
- Panomic analysis and systems biology is applied to analyze the case of an individual patient’s illness at the molecular level and then to use targeted treatments (possibly in combination) to address that individual patient’s disease process.
- Molecular pathological epidemiology, which is able of identifying potential biomarkers for PM is also used.
- Individual germ line DNA sequencing
- Several hopeful technology modalities are being developed, from techniques combining spectrometry and computational power to real-time imaging of drug effects in the body.
- The increase of image fusion technology from anatomical image to anatomical and functional image, which not only has enhanced the image diagnosis level but also laid a solid foundation for precision radiotherapy.
- The radio-resisted hypoxic cell is considered to be one of the principal reasons for local recurrence after radiotherapy. Hypoxic cell images can be used to evaluate the hypoxic condition of tumor cells and therefore to guide the establishment of precision radiotherapy plan, which has been becoming one of the global research hotspots.
- On the treatment side, PM can affect the use of customized medical products such drug cocktails produced by pharmacy compounding or customized devices. It can also prevent bad drug synergies, increase overall efficiency when prescribing medications, and reduce costs associated with healthcare.
- PM offers the potential to tie big data into the equation for medicine. There is a tremendous advantage to incorporating big data analytics into health care, including expanded genomic analysis, R&D acceleration, and public health insights to name a few.
- Tools employed in PM can include molecular diagnostics, imaging, and analytics.
PM, by applying genomics, proteomics and other relevant technologies to examine and identify the biomarkers of large sample groups and specific conditions, is to provide precise and individualized treatment to individual patients and conditions. Still, many of the technologies that will be required to meet the aims of the Precision Medicine Initiative are in the initial stages of advancement or have not yet been developed.
What are its practical applications?
Although the phrase “precision medicine” is relatively new, the theory has been a part of healthcare for several years. For instance, a person who needs a blood transfusion is not given blood from a randomly picked donor; instead, the donor’s blood type is matched to the recipient to reduce the risk of complications. Presently, it is solving many problems which are practical and can be applied to many areas of medical research.
- In cancer research, personalized medicine that is based on genomics and pharmacogenomics is growing rapidly. Other chronic diseases, such as diabetes and neurodegenerative diseases have widened their horizons and included precision medicine in their research strategies. The branch of PM that addresses cancer is referred to as “precision oncology.”
- On their most basic level, cancers are conditions in which normal cells grow more swiftly than they die. Genes control this cycle of growth and death. Mutations in these genes can influence a person’s cancer risk, but they can end up in the genome in different ways. Germ line mutations are those that you acquire, women who are born with the BRCA mutations have a greater risk of developing breast and ovarian cancer as grown-ups. Acquired mutations are the ones that are attached to your genome after you are conceived; women with HER2-positive breast cancer weren’t born with that mutation. It developed over time due to environmental and lifestyle factors.
- In the past, when scientists needed to test a new cancer drug on patients, they would arrange them by the location of their cancer may be colon, lung, breast. But with the rise of PM, researchers have recognized that cancers with the same driving mutation. There’s no matter where they are in the body, have more in general.
- To combine multiple targeted treatments so that they fight more cells, not only the ones primarily driving cancer like using several hammers to whack all the moles at once. By stopping multiple pathways, doctors could take the tumor out correctly, she adds and put cancer in remission.
- By using PM, the medical diagnostics had made another step forward and is providing with better and even accurate results.
- As the major focus is done on cancer, this technology can also be utilized in curing chronic diseases like diabetes and other diseases like Alzheimer’s disease and others.
- It is used in curing immunotherapy characterized by enhancing targeting and validity and realized by a combination of traditional immunotherapy with genetic engineering technology to modify the structure and function of antibody and immune cells.
- A new epoch of precision medicine will come true with the development of biomedical technology, the always renewed conception on oncotherapy and rapidly developed antineoplastics.
- Inflammatory brain diseases are a relatively new area of inflammation but have a vastly expanding spectrum of illness.
- Inflammatory brain diseases, including infectious meningitis, vasculitis, encephalitis, T-cell mediated inflammatory brain diseases, and demyelinating illnesses are rare infections and would benefit from a PM approach.
- For billing purposes and in routine care, ICD-codes (International Catalog of Diseases) are usually used. ICD-codes do not differentiate between symptoms and diagnosis and are of limited value for systematic epidemiological research. For instance, the same case of aseptic meningitis can be coded as either ‘headache’ or ‘meningitis.’ Standardized case measures are of particular importance as they have been developed for numerous complex neurological or autoimmune diseases, including aseptic meningitis, encephalitis, myelitis, and acute disseminated encephalomyelitis (ADEM). The application of these case criteria to electronic health records (EHR) has been shown to provide reproducible and consistent datasets as well as a significant advantage over ICD-codes assigned in routine care.
These are some of the practical applications of PM and day-to-day, it is said to be increased further in many areas of medical research.
How big is the market?
Initially, the under-recognized childhood and adult diseases were associated with the high burden of illness and associated high mortality rates. In rheumatoid arthritis, the only discovery of the cytokine TNF-alpha has changed a joint-destructing debilitating disease refractory to treatment into a well-controlled disease. Inflammatory brain infections are a relatively new area of inflammation but have a vastly expanding spectrum of illness. The government of USA had funded $ 215 million for PM to initiate a paradigm shift in modern medicine. The funding would afford $200 million in new spending to the National Institutes of Health, $10 million for the Food and Drug Administration, and the remaining $5 million would reach the Office of the National Coordinator for Health Information Technology. The market of PM is highly dependent on the patient’s confidentiality. Patients should be confident that diagnostic tests certainly give correct results especially when test results are used in making important medical arrangements. The FDA has long taken a risk-based way to the oversight of diagnostic tests, historically directing on test kits that are broadly sold to laboratories or the public, such kits are sold only if the FDA has defined that they accurately provide clinically significant data. But recently, many laboratories have begun performing and broadly marketing laboratory-developed tests, including complex genetic tests. The outcomes of these tests can be quite challenging to interpret. Because clinicians may order a genetic test only once, getting the results right the first time is crucial.
As PM is very good at providing the accurate data for treating a disease, I think its market is not so big and is still developing. Before it can reach its full potential, it has to become more precise. There are various factors that could slow or even prevent the precision medicine from becoming successfully integrated into health care.
- High cost.
- Returning to the four components recognized as elements for a successful integration of precision medicine (data, tools and systems, regulations, and people).
- There is a deficiency of subject matter experts and documented low confidence levels inside the ranks of primary care physicians on the theme of genetics.
- The technologies powering PM are still in a developing stage, and some are not developed yet.
Who are the main players and stakeholders?
PM is still a young and growing field. Many people are willing to invest and take part in this program such as researchers, government agencies, and business people. Majority of them are listed below
- NIH, which had contributed a lot of research in this field and is funded with $215 million from the government of the USA towards its initiative.
- National Cancer Institute (NCI), an institute of NIH which is focused on cancer research.
- Food and Drug Administration (FDA), which prepares the drugs for the individuals or particular groups of people as specified by NIH.
- Memorial Sloan Kettering Cancer Center (MSKCC) has tested treatments on patients with the same cancerous mutation in different parts of the body. The researchers examined a drug on 122 patients in whole.
- Moores Cancer Center at the University of California, San Diego had believed that if the researcher can read the genes more efficiently than ever before, treatments that target the mutations have suddenly become a reality.
- Razelle Kurzrock is the director of the center for personalized cancer therapy at the Moores cancer center.
- Some of the genetic societies such as American Board of Medical Genetics and Genomics (ABMGG), US based National Society of Genetic Counselors, Australian Society of Genetic Counselors and other international societies try and capture an improved global picture.
- Office of National Coordinator for Health Information Technology (ONC), who shared the research from NIH with $5 million.
- Health Information Technology for Economic and Clinical Health (HITECH) provided the US Department of Health and Human Services with $29.5 billion to encourage the adoption of Electronic Health Records (EHRs).
- Genome-wide Association Studies (GWAS) had studied uncovered genetic variations associated with more than 80 common polygenic diseases.
- The American Medical Informatics Association had provided various suggestions for the successful implementation of PM.
- Accreditation Council for Graduate Medical Education (ACGME) had provided newly accredited clinical informatics fellowship to encourage additional training by medical professionals.
What are its implications for the future health of humanity?
After US President Obama stated his intention to develop precision medicine at a situation of the union address in 2005, NIH had planned to make a study on 1 million volunteers from around the US. From this, the researchers can study a large range of diseases, with the goals of better-predicting disease risk, understanding how infections occur, and finding improved diagnosis and treatment strategies. This study may lead to developing a better way for curing illness in future. Future purposes can be integrated into the physician workflow promoting timely and consistent case ascertainment in agreement with international case criteria and regulatory data standards. This will provide accurate, high-resolution clinical data enabling syndromic surveillance, precision medicine, and measurable improvement in patient outcomes. The potential for quality enhancement through mobile health tools is evident. The physician will be enabled to ask the right questions at the right time, thereby achieving greater data granularity and accuracy. In the next coming years, numerous genomic discovery platforms in combination with clinical phenotyping based on electronic medical record data will start to more insight concerning disease processes and result in more individualized targeted treatment. Overall the use of clinical phenotype and analysis tools help to diagnose diseases early to allow a more rapid introduction of targeted treatment is avoiding harm and increasing benefit. Although examples can be found in various areas of medicine, the role of PM in day-to-day health care is comparatively limited. Researchers hope that this method will expand too many areas of health in coming years.
The field of medicine had developed from targeting overall body to tailor treatments of patient-specific tissue or organs for different kinds of people. So, in future, the complete disease classification, diagnosis, and treatment are done rapidly by a new paradigm approach.
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