Clinical Implications of Biomarkers in Precision Medicine

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CLINICAL IMPLICATIONS OF BIOMARKERS IN PRECISION MEDICINE

 

INTRODUCTION

The year 2003 marked the completion of the Human Genome Project, which initiated an increased focus on genomics within the health care system [1].  Later in the year 2011, four major research institutes: American Academy of Science, National Academy of Engineering, National Institute of Health and the National Science Foundation, proposed a multidisciplinary research plan on precision medicine [2]. In January 2015, President Obama announced that the United States would initiate its research plan on Precision Medicine, with the goal to cure or prevent cancer, diabetes and other diseases [2,3]. Precision medicine would be achieved through the collection of medical records of individuals who are ill. The data collected will help provide an understanding of disease biology, pathogenesis and precision-health care towards specific populations and individuals [3]. The following review focuses on the role of biomarkers through current treatments and the future of precision medicine.

BIOMARKERS

Biomarkers are identified as being a “Cellular, biochemical or alteration that is measurable in biological media such as human tissues, cells or fluids” [4].  Biomarkers are used to identify a normal physiological process within the body where they can note the presence of disease through any changes within the body. Biomarkers can also be used to determine the pharmacodynamics of a drug towards a specific disease. In the clinical setting, biomarkers aid in predicting, diagnosing, and identifying the cause of the disease or the outcome of treatment. Biomarkers often aid in the diagnosis and management of various conditions such as cardiovascular disease, immunological disorders, genetic disorders and cancer [4].  Biomarkers can help to detect the earliest events in the natural history of a disease, where an individual can take action to prevent the occurrence or progression of the disease. Biomarkers can also prevent misclassification of the disease or exposure, which is essential when identifying the proper treatment for an individual. There are two major classifications of biomarkers, those being biomarkers of exposure and the other being of disease. Biomarkers of exposure are used to identify risk prediction, which are characteristics that predict a health outcome. While biomarker of a disease can be used in various applications such as screening, diagnosis, and monitoring [4]

PRECISION MEDICINE

The concept of Precision Medicine has increased drastically after the establishments such as the Human Genome Project. With the use of precision medicine we will have the ability to identify subtypes of a disease within a genome improved the ability to prevent and treat numerous diseases [5].  Establishments such as the Human Genome Project might have contributed to the increased research on precision medicine, but the term precision medicine is not a new concept, for it had occurred in the early 1900s. In the early 1900s, the identification of blood types and transfusion outcomes had been established. They had noted that blood could not be transferred from one individual to another incoherently but instead, patients had to be matched based on blood type to reduce any complications [6]. According to the NIH, precision medicine can be identified as preventive and treatment methods that account personal factors that may affect a patient such as genes, and lifestyle [6].  Precision medicine looks at medicine in a more detailed approach by understanding the genetic and genomic factors within the patient [2]. Some of these factors identified include the genetic, biomarker, phenotypic or psychosocial characteristics, usually compared to a healthy individual to identify any changes occurring [7]. The identification of specific factors in the body will help predict the process of the disease, establishing individualized prevention, diagnosis, and treatment methods [2]. This will result in a decrease of side effects, and an increase in the application of the most effective treatment based on the patient’s biological makeup.

CLINICAL IMPORTANCE OF BIOMARKERS IN PRECISION MEDICINE

The idea that people may react differently towards a specific treatment is not something new, the way our body reacts to something is based on our genetics, determining how our body may respond towards disease. Modern medicine often utilizes the one-size-fits-most approach, where if many patients were to go to a would probability be prescribed the same dosage as anyone else, without taking into account family history, age, sex, weight, and medical history [6]. Precision medicine brings uniqueness towards an individual’s treatment plan by taking account the genes, surrounding, and lifestyle of the patient. The following factors will help validate that the patient is receiving the most suitable treatment by taking into consideration the effects, mechanisms, and factors the body may have towards a disease [2]. In precision medicine to determine the right treatment, the application of genomics, proteomics and other technologies to analyze and identify the biomarkers of large sample groups and specific disease is crucial to develop a precise and individualized treatment. Precision medicine will result in the decrease of side effects and medical expenses while optimizing therapeutic effect [2]. A majority of complications associated with diseases can be easily prevented while caught in the early stages. This is due to the fact that we have the scientific and technological resources to monitor diseases molecularly and are able to determine when small changes in such diseases occur. This allows health care practitioners – specifically physicians and pathologists – to find the means to deviate away from the complications that may occur by introducing innovations contributing to molecular diagnosis [8]

Current Treatments

When applying systems biology within precision it is not just limited to an explanation of disease progress, but it also helps determine screening, diagnosis, monitoring, prognosis, and selection of therapy towards a specific disease based on the genetic make-up of an individual — current applications of the precision medicine range in various specialties including mutation-specific therapies, personalizing early detection strategies and disease prevention [7]. Mutation-specific therapies are to create and identify personalized treatments specific to an individual’s genetic make-up. An example of a current application of a mutation-specific therapy would be amongst those with cystic fibrosis who have the CFTR gene mutation. The CFTR gene has a gate-like structure which manages the influx and efflux of salts within the cell but if a mutation is present the opening and closing of the gate slows down which causes a buildup of mucus within the lung. In precision medicine, if the biomarker CFTR has a gene mutation, the drug ivacaftor could be applied to bring the influx and efflux of salts back to its normalized speed, preventing the buildup of mucus [9].  However, note, only those who have the specific biomarker will benefit from the following drug. Another application of biomarkers in precision medicine would be the application of circulating biomarkers within those who are high-risk cancer patients. These biomarkers can help calculate patient risk, tumor mass and prediction of treatment outcomes in real time. This is achieved through the use of assays such as reverse transcriptase quantitative PCR, which identifies tumor-derived biomarkers in blood and other fluid. An example of this application would be gathering tumor cells in bone marrow from those with neuroblastoma, which can be used to identify biomarkers for prognosis and disease progression [8]. Table 1 of the appendix is a list of ­­­­current precision medicine applications towards various cancers, epilepsy and HIV.

Future of Precision Medicine

    With the rising interest in biomarkers, a lot of research on precision and biomarkers are arriving into foreign territory allowing increasing the horizon on the many possible applications of biomarkers within precision medicine for many different specialties. Possible applications in the future may include the increased application of digital biomarkers, patient derived cellular avatars, intensive personalized health monitoring and biomarkers usage amongst high risk cancer patients. Currently, some medications focus on altering the genetic pathways in cancers, in the future the application of targeted immunotherapies for cancer will exist. The targeted immunotherapies will consist of antibodies that work against tumor or immune checkpoint pathways rather than alternating the genetic path of cancer [7]. This can be achieved through the use of autologous T cells engineered to target specific antigens. The method of biomarkers will aid in the identification of which antibody pairs with what antigen. Once established, the use of targeted immunotherapies will be wildly applied in oncology [7]. With the drastic increase in precision medicine, there’s no doubt that one day in the near future precision medicine could be applied in the clinical setting to diagnosis and determine the most effective treatment. However, some challenges may come across the process from research to clinical. Future and current doctors will need to learn more about omics, data integration, and bio information, to apply the concept of precision medicine to their work [10]. Precision medicine is a term often coined by those in biomedical research and oncology. There is currently a lack of awareness when it comes to precision medicine, by teaching current and future medical professionals and researchers about precision medicine the sooner we would be able to integrate the concept into the clinical setting.

Challenges of Precision Medicine

One challenge of successfully implementing and supplying precision medicine is finding more effective biomarkers within the body that are associated with specific diseases and their detection. Finding more effective biomarkers would help improve treatment regimes, especially for diseases that lack genetic susceptibility and are harder to identify such as Alzheimer’s disease and concussions. However, being provided with the resources in order to do this may prevent such an advancement. This is due to the fact that in order to achieve these means, an adequate amount of funding is required needed for research, and most funding is used towards marketing new drugs rather than creating new diagnostic tests. There is also controversy towards mammography, which is used to test for prostate-specific antigens – which may hinder the idea of finding biomarkers regardless of how sensitive and specific they are [7]. Another challenger associated with precision medicine is regarding how to transfer and present data – either derived from omic data or from environmental and lifestyle factors – that would be able to conclude clinical outcomes and drug responses. Omics data in itself has the complication of being difficult to derive well established biomarkers from despite it being fairly accurate. For example, biomarkers that are omic-based of cancer are not as strong, which can affect the predictive value of other groups with the similar type of cancer[11]. Lastly, the application of precision medicine and omics must be incorporated into the curriculum of future and current medical professionals since the topic is usually only mentioned in research and oncology.

CONCLUSION

In conclusion, biomarkers play a crucial role in precision medicine, without the use of biomarkers we would not be able to characterize genomic, biochemical and behavioral changes occurring in response to treatments, disease or interventions. There are various forms of precision medicine currently available ranging from omics, wireless monitoring devices and DNA sequencing which can be clinically used with monitoring, diagnosis, prognosis, screening, and selection of therapy. We are not just limited to the precision medicine techniques currently available, we have barely touched the tip of the iceberg in the world of precision medicine, and the pipeline for new biomarkers just started flowing. However, there will be some challenges in the near future for not many medical professionals know about the possible applications biomarkers may have in the medical field. Therefore, intensive teaching will have to be done to inform medical professionals about concepts such as omics and DNA sequencing. Precision medicine would yield more accurate outcome predictability for relevant health care practitioners, such as scientists and other medical staff, both advocate and support the implementation of policies towards cost efficiency for users. These changes in precision medicine are envisioned towards improved outcomes along with health care certainty and management within all health care systems which would overall lean towards long-term sustainability solutions. Additionally, this supports the argument related to the pharmaceutical industry as it counters cost effective.

METHODS

In the following paper, literature was obtained using PubMed, Open Access Journals, ScienceDirect and CINAHL. The terms used while searching for the following literature included personalized medicine, precision medicine, and biomarkers.

 

FUTURE DIRECTIONS

A future direction for the precision medicine of the future should include more proper and adequate education and dissemination of information about biomarkers. This can be beneficial and solve the following challenges: the lack of information about the inadequacy of some diagnostic testing techniques and biomarkers, and lack of funding. For example, by educating the right medical professionals about such inadequacies, there may be more direction created towards the need of implementing new techniques for identifying for effective biomarkers for certain diseases. Also, by forwarding such education and information to stakeholders that are relevant to the field, funding towards new diagnostic testing can be done.

REFERENCES:

[1] Pritchard, D. E., Moeckel, F., Villa, M. S., Housman, L. T., McCarty, C. A., & McLeod, H. L. (2017).               Strategies for integrating personalized medicine into healthcare practice. Personalized medicine,               14(2), 141-152.

[2] Wang, Z. G., Zhang, L., & Zhao, W. J. (2016). Definition and application of precision medicine.               Chinese Journal of Traumatology, 19(5), 249.

[3] Ginsburg, G. S., & Phillips, K. A. (2018). Precision medicine: from science to value. Health Affairs,               37(5), 694-701.

 [4] Mayeux, R. (2004). Biomarkers: potential uses and limitations. NeuroRx, 1(2), 182-188.

[5] Redekop, W. K., & Mladsi, D. (2013). The faces of personalized medicine: a framework for  understanding its meaning and scope. Value in Health, 16(6), S4-S9.

[6] Prince, J. D. (2017). Precision Medicine: An Introduction. Journal of Electronic Resources in Medical               Libraries, 14(3-4), 120-129.

[7] Jameson, J. L., & Longo, D. L. (2015). Precision medicine—personalized, problematic, and  promising. Obstetrical & Gynecological Survey, 70(10), 612-614.

[8] Chen, R., & Snyder, M. (2012). Systems biology: personalized medicine for the future?. Current opinion in pharmacology, 12(5), 623-628.

[9] Goetz, L. H., & Schork, N. J. (2018). Personalized medicine: motivation, challenges, and progress.               Fertility and sterility, 109(6), 952-963.

[10] Duffy, D. J. (2015). Problems, challenges and promises: perspectives on precision medicine.  Briefings in bioinformatics, 17(3), 494-504.

[11] Wang, E., Cho, W. C., Wong, S. C., & Liu, S. (2017). Disease biomarkers for precision medicine:               challenges and future opportunities.
APPENDIX

 

Table 1: Current Precision Medicine Applications [5,7]

 

Medical Field

Disease

Biomarker

Implications for Treatment

Cancer

Chronic Myeloid Leukemia

BCR-ABL

Imatinib

 

Lung Cancer

EML4-ALK

Crizotinib

 

Breast Cancer

BRCA1, BRAC2

Survalience, Risk Modification, Chemoprevention, Prophylatic surgery

 

HER2

Trastuzumab (yes or no)

 

Mammaprint

Adjuvant Chemotherapy (yes or no)

Hematology

Thrombosis

Factor V Leiden

Avoid prothrombotic drugs

Infectious Disease

HIV/AIDS

CD4+ T cells, HIV viral load

Highly active antiviral therapy

Cardiovascular Disease

Coronary Artery Disease

CYP2C19

Clopidogrel

 

Atrial Fibrillation

CY2CP, VKORC1

Warfarin dosage

Pulmonary Disease

Cystic Fibrosis

G551D

Ivacaftor

Renal Disease

Transplant Rejection

Urinary Gene Signature

Antirejection Drug

Metabolic Disease

Hyperlipidemia

LDL Cholesterol

Statins

Neurology

Autoimmune encephalitis

CXCL13

Immunotherapy

 

Epilepsy

HLA B*1502

Caramazepine

Psychiatry

Alcohol-Use Disorder

GRIK1

Topirmate

Pharmacogenomics

Smoking Cessation

CYP2A6

Varenicline

Ophthalmology

Leber’s Congenital Amaurosis

RPE65

Gene Therapy

 

 

HLSC4P98 IMPROVEMENTS

The course layout was well planned and enjoyable. The only improvement that I would suggest is  posting the lecture slides and presentations, but I guess that depends on your teaching style.

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