From Precision Medicine to Precision Health: A Full Angle from Diagnosis to Treatment and Prevention

Author(s):  
Arash Shaban-Nejad ◽  
Martin Michalowski
Cancers ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 242
Author(s):  
Ann Hoeben ◽  
Elbert A. J. Joosten ◽  
Marieke H. J. van den Beuken-van Everdingen

Personalized medicine (PM) or precision medicine in oncology is an emerging approach for tumor treatment and prevention that takes into account inter- and intra-tumor variability in genes, tumor (immune) environment, and lifestyle and morbidities of each person diagnosed with cancer [...]


Author(s):  
Nancy G. Casanova ◽  
Ting Wang ◽  
Eddie T. Chiang ◽  
Joe G. N. Garcia

This chapter briefly reviews the use of genomewide screening for early detection, treatment, and prevention and the utility of genome-based biomarkers as a tool for precision medicine and its application to population and integrative preventive medicine. Advances in technology have made genomic screening more affordable and widely available, and both our understanding and the value of testing grow as more data is collected. Even more recently, the growing availability of epigenetic testing, methylation and ROS-associated molecular signatures are providing more insight into dynamic aspects of the human genome and how lifestyle and IPM change affect the expression of the genome. Early adoption of precision medicine in oncology offers a model that should be expanded into wider areas of treatment and prevention.


Author(s):  
H. Hampel ◽  
S.E. O’Bryant ◽  
J.I. Castrillo ◽  
C. Ritchie ◽  
K. Rojkova ◽  
...  

During this decade, breakthrough conceptual shifts have commenced to emerge in the field of Alzheimer’s disease (AD) recognizing risk factors and the non-linear dynamic continuum of complex pathophysiologies amongst a wide dimensional spectrum of multi-factorial brain proteinopathies/neurodegenerative diseases. As is the case in most fields of medicine, substantial advancements in detecting, treating and preventing AD will likely evolve from the generation and implementation of a systematic precision medicine strategy. This approach will likely be based on the success found from more advanced research fields, such as oncology. Precision medicine will require integration and transfertilization across fragmented specialities of medicine and direct reintegration of Neuroscience, Neurology and Psychiatry into a continuum of medical sciences away from the silo approach. Precision medicine is biomarker-guided medicine on systems-levels that takes into account methodological advancements and discoveries of the comprehensive pathophysiological profiles of complex multi-factorial neurodegenerative diseases, such as late-onset sporadic AD. This will allow identifying and characterizing the disease processes at the asymptomatic preclinical stage, where pathophysiological and topographical abnormalities precede overt clinical symptoms by many years to decades. In this respect, the uncharted territory of the AD preclinical stage has become a major research challenge as the field postulates that early biomarker guided customized interventions may offer the best chance of therapeutic success. Clarification and practical operationalization is needed for comprehensive dissection and classification of interacting and converging disease mechanisms, description of genomic and epigenetic drivers, natural history trajectories through space and time, surrogate biomarkers and indicators of risk and progression, as well as considerations about the regulatory, ethical, political and societal consequences of early detection at asymptomatic stages. In this scenario, the integrated roles of genome sequencing, investigations of comprehensive fluid-based biomarkers and multimodal neuroimaging will be of key importance for the identification of distinct molecular mechanisms and signaling pathways in subsets of asymptomatic people at greatest risk for progression to clinical milestones due to those specific pathways. The precision medicine strategy facilitates a paradigm shift in Neuroscience and AD research and development away from the classical “one-size-fits-all” approach in drug discovery towards biomarker guided “molecularly” tailored therapy for truly effective treatment and prevention options. After the long and winding decade of failed therapy trials progress towards the holistic systems-based strategy of precision medicine may finally turn into the new age of scientific and medical success curbing the global AD epidemic.


2020 ◽  
Author(s):  
Alice B. Popejoy ◽  
Kristy R. Crooks ◽  
Stephanie M. Fullerton ◽  
Lucia A. Hindorff ◽  
Gillian W. Hooker ◽  
...  

AbstractGenetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in either setting. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (N=448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importance of REA in both clinical and research settings. The majority of respondents (>55%) felt that REA are at least somewhat important for clinical variant interpretation, ordering genetic tests, and communicating results to patients. However, there was no consensus on the relevance of REA, including how each of these measures should be used in different scenarios and what information they can convey in the context of human genetics. A lack of common definitions and applications of REA across the precision medicine pipeline may contribute to inconsistencies in data collection, missing or inaccurate classifications, and misleading or inconclusive results. Thus, our findings support the need for standardization and harmonization of REA data collection and use in clinical genetics and precision health research.


2017 ◽  
Vol 243 (3) ◽  
pp. 313-322 ◽  
Author(s):  
Jennifer L Wilson ◽  
Russ B Altman

Biomarkers are the pillars of precision medicine and are delivering on expectations of molecular, quantitative health. These features have made clinical decisions more precise and personalized, but require a high bar for validation. Biomarkers have improved health outcomes in a few areas such as cancer, pharmacogenetics, and safety. Burgeoning big data research infrastructure, the internet of things, and increased patient participation will accelerate discovery in the many areas that have not yet realized the full potential of biomarkers for precision health. Here we review themes of biomarker discovery, current implementations of biomarkers for precision health, and future opportunities and challenges for biomarker discovery. Impact statement Precision medicine evolved because of the understanding that human disease is molecularly driven and is highly variable across patients. This understanding has made biomarkers, a diverse class of biological measurements, more relevant for disease diagnosis, monitoring, and selection of treatment strategy. Biomarkers’ impact on precision medicine can be seen in cancer, pharmacogenomics, and safety. The successes in these cases suggest many more applications for biomarkers and a greater impact for precision medicine across the spectrum of human disease. The authors assess the status of biomarker-guided medical practice by analyzing themes for biomarker discovery, reviewing the impact of these markers in the clinic, and highlight future and ongoing challenges for biomarker discovery. This work is timely and relevant, as the molecular, quantitative approach of precision medicine is spreading to many disease indications.


2016 ◽  
Vol 23 (4) ◽  
pp. 787-790 ◽  
Author(s):  
Samantha A Adams ◽  
Carolyn Petersen

Abstract Precision medicine approaches disease treatment and prevention by taking patients’ individual variability in genes, environment, and lifestyle into account. Although the ideas underlying precision medicine are not new, opportunities for its more widespread use in practice have been enhanced by the development of large-scale databases, new methods for categorizing and representing patients, and computational tools for analyzing large datasets. New research methods may create uncertainty for both healthcare professionals and patients. In such situations, frameworks that address ethical, legal, and social challenges can be instrumental for facilitating trust between patients and providers, but must protect patients while not stifling progress or overburdening healthcare professionals. In this perspective, we outline several ethical, legal, and social issues related to the Precision Medicine Initiative’s proposed changes to current institutions, values, and frameworks. This piece is not an exhaustive overview, but is intended to highlight areas meriting further study and action, so that precision medicine’s goal of facilitating systematic learning and research at the point of care does not overshadow healthcare’s goal of providing care to patients.


Sensors ◽  
2020 ◽  
Vol 20 (12) ◽  
pp. 3551 ◽  
Author(s):  
Rasa Pauliukaite ◽  
Edita Voitechovič

The significant improvement of quality of life achieved over the last decades has stimulated the development of new approaches in medicine to take into account the personal needs of each patient. Precision medicine, providing healthcare customization, opens new horizons in the diagnosis, treatment and prevention of numerous diseases. As a consequence, there is a growing demand for novel analytical devices and methods capable of addressing the challenges of precision medicine. For example, various types of sensors or their arrays are highly suitable for simultaneous monitoring of multiple analytes in complex biological media in order to obtain more information about the health status of a patient or to follow the treatment process. Besides, the development of sustainable sensors based on natural chemicals allows reducing their environmental impact. This review is concerned with the application of such analytical platforms in various areas of medicine: analysis of body fluids, wearable sensors, drug manufacturing and screening. The importance and role of naturally-occurring compounds in the development of electrochemical multisensor systems and arrays are discussed.


2019 ◽  
Vol 8 (3) ◽  
pp. 393 ◽  
Author(s):  
Chan Heo ◽  
Chang-Ik Choi

Precision medicine is a scientific and medical practice for personalized therapy based on patients’ individual genetic, environmental, and lifestyle characteristics. Pharmacogenetics and pharmacogenomics are also rapidly developing and expanding as a key element of precision medicine, in which the association between individual genetic variabilities and drug disposition and therapeutic responses are investigated. Type 2 diabetes (T2D) is a chronic metabolic disorder characterized by hyperglycemia mainly associated with insulin resistance, with the risk of clinically important cardiovascular, neurological, and renal complications. The latest consensus report from the American Diabetes Association and European Association for the Study of Diabetes (ADA-EASD) on the management of T2D recommends preferential use of glucagon-like peptide-1 (GLP-1) receptor agonists, sodium-glucose cotransporter-2 (SGLT2) inhibitors, and some dipeptidyl peptidase-4 (DPP-4) inhibitors after initial metformin monotherapy for diabetic patients with established atherosclerotic cardiovascular or chronic kidney disease, and with risk of hypoglycemia or body weight-related problems. In this review article, we summarized current progress on pharmacogenetics of newer second-line antidiabetic medications in clinical practices and discussed their therapeutic implications for precision medicine in T2D management. Several biomarkers associated with drug responses have been identified from extensive clinical pharmacogenetic studies, and functional variations in these genes have been shown to significantly affect drug-related glycemic control, adverse reactions, and risk of diabetic complications. More comprehensive pharmacogenetic research in various clinical settings will clarify the therapeutic implications of these genes, which may be useful tools for precision medicine in the treatment and prevention of T2D and its complications.


Sign in / Sign up

Export Citation Format

Share Document