Great strides in precision medicine: Personalized oncology and molecular diagnostics
Priya Hays in Advancing Healthcare Through Personalized Medicine, 2017
Meyer et al. defined personalized medicine as a “comprehensive, prospective approach to prevent, diagnose, and treat disease by using each person’s unique clinical, genetic, genomic, and environmental information.” Some examples of current pharmacological personalized medicine therapies in oncology clinical practice in North America are the use of trastuzumab (breast cancer), imatinib (chronic myeloid leukemia), panitumumab (colorectal cancer), vemurafenib (malignant melanoma) and crizotinib (large-cell lymphoma and non-small-cell lung cancer). These and similar therapies based on determining the patient’s molecular and genetic cancer markers help to provide refined treatment decisions for those affected with life-threatening conditions. The characterization of patients’ molecular and genetic disease profiles is achieved with “companion diagnostic tests,” which are categorized as prognostic, predictive or both. These tests comprise technologies that identify changes in DNA and RNA, epigenetic modifications, altered signaling pathways and protein and metabolic tumor biomarkers. Their use requires evaluation, quality control, standardization and approval from health regulatory organizations. Assessments leading to treatment selection that have been of predictive potential for specific patients when accurate and standardized “allow for proper classification of patients” and for disease management geared towards personalization (Egalite et al., 2014, 660).
General Discussion about Human CYP2D6
Shufeng Zhou in Cytochrome P450 2D6, 2018
Allelic variations in the genes encoding drug targets, drug transporters, and drug-metabolizing enzymes as a result of polymorphism have the potential to have a substantial effect on drug clearance and response (Ma and Lu 2011). It is expected that personalized treatments will be offered in the near future on the basis of the genotypes of individuals, therefore optimizing the dosage and decreasing the frequency of ADRs. Personalized medicine is the use of detailed information about a patient’s genotype or level of gene expression and a patient’s clinical data in order to select a medication, therapy, or preventative measure that is particularly suited to that patient at the time of administration (Hamburg and Collins 2010). The benefits of this approach include accuracy, efficacy, safety, and speed.
Molecular diagnosis of endometrial receptivity
Carlos Simón, Linda C. Giudice in The Endometrial Factor, 2017
Several modalities of endometrial assessment (immunohistochemistry, differential display and reverse-transcription polymerase chain reaction (PCR), DNA microarray, microRNA studies, proteomic analyses, etc.) have advanced our knowledge of endometrial receptivity. The ERA test is currently a clinically applicable diagnostic test that can determine receptivity of the endometrium, using the identification of the endometrial receptivity transcriptomic signature. The ERA introduces the concept of pET, allowing the personal treatment of previously unknown endometrial pathology. Personalized medicine is beginning to transform the practice of medicine, shifting its emphasis from reaction to prevention. It will allow the treatment of every single person based on his or her unique genetic constitution while predicting susceptibility to disease and customizing health strategies.
Update on molecular companion diagnostics - a future in personalized medicine beyond Sanger sequencing
Published in Expert Review of Molecular Diagnostics, 2020
Gigabytes of genetic information, the vast majority of which is consistent between all human beings [1,2]. While less than 1% of the human genome differs between individuals, these variations have the ability to influence countless mechanisms of health including disease processes and the efficacy of potential pharmaceutical interventions [2,3]. Based on these genetic variations between individuals, two patients with identical clinical presentations have the potential for discordant responses to the same pharmaceutical treatment. As the medical community has realized the influence of an individual’s genetics on their response to pharmaceutical therapies, the concept of personalized medicine has emerged. Personalized medicine is defined as the incorporation of the distinctive features of each patient (genetic, environmental, and otherwise) into the medical treatment process [4]. Personalized medicine covers a broad range of disciplines across the medical field ranging from medical imaging to fetal medicine [5,6]. Among its vast list of applications, personalized medicine is perhaps most often applied within the arena of pharmacotherapy. In the field of pharmacotherapy, personalized medicine harnesses the power of biological markers and genetics to tailor drug choices to individual patients and their disease(s) [7].
Ten key features of the future medical school—not an impossible dream
Published in Medical Teacher, 2018
Health care professionals treat each patient as an individual who requires their own personal management plan. Some patients with hyperthyroidism, for example, may require drug therapy, others radioactive iodine or surgery depending on their personal condition. Personalized medicine is increasingly a feature of medical practice. Each student is also different but personalized education has until recently attracted less attention. I became acutely aware of the need to respond to students’ individual needs when, as chair of the endocrine system course, I asked students to complete the end-of-course MCQ assessment on day one of the course. The range in the students’ performance was great with some students scoring less than 5% and others over 45%. It was obvious that the needs of the students at the upper end were different from those at the lower end. There was a need to polish the diamonds but also smooth the pebbles. This led to the development of an independent learning program where students could work at their own pace testing their understanding as they proceeded (Harden et al. 1969). In the Carnegie Foundation report, Educating Physicians, one of the four recommendations for change in medical education in the USA is that greater options should be provided for individualizing the learning experience for students and residents (Cook et al. 2010).
Current Perspective in the Management of Hepatocellular Carcinoma: Time to Get Personal!
Published in Journal of Investigative Surgery, 2021
This last point highlights some of the existing obstacles in the pursuit of personalized medicine. Specifically, there is the need to be able to accumulate and evaluate significant amounts of data with the use of genetic databases, such as the Cancer Genome Atlas in this paper. The use and analysis of “Big Data” necessitates the integration of machine learning and artificial intelligence as an essential tool in the fight against cancer. Additionally, obtaining these huge amounts of data is not always easy given the scarcity of tissue, especially for advanced disease. The use of liquid biopsies could potentially improve the accumulation of circulating biomarkers, although what is really needed are better preclinical models, which will involve cell cultures that would take into consideration the tumor microenvironment.
Related Knowledge Centers
- Biomedical Engineering
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