Implementing Precision Medicine in Best Practices of Chronic Airway Diseases

Ioana Agache,Peter Hellings

• Publisher: Academic Press
• Year: 2018
• ISBN:
  9780128134726
• Topic: Medicina
• Subtopic: Teoria, pratica e riferimenti medici

Implementing Precision Medicine in Best Practices of Chronic Airway Diseases provides a comprehensive overview of the application of precision medicine in airway diseases with a goal of promoting optimal control of disease, higher patient satisfaction and disease prevention. As medical research continues to fund this area, the book highlights the need for implementation of the principles of precision medicine into the bedside management of chronic airway diseases. It is clear that chronic airway diseases are heterogeneous and that a personalized approach is warranted whereby treatment is tailored to the level of the individual patient.Written for basic researchers, medical doctors and other healthcare practitioners this book provides guidance on the implementation of the principles of precision medicine into further research and daily clinical practice.

• Bridges the gap between precision medicine research and the implementation of the principles into daily clinical practice
• Includes contributions from key opinion leaders in the field of airway disease giving a worldwide perspective
• Discusses precision medicine in terms of personalized and stratified medicine, biomarkers, prediction of success, participation of the patient and prevention of disease

Part I

The Concept of Precision Medicine and Precision Health

Outline

• Chapter 1 The Audacious Goal of Precision Medicine
• Chapter 2 Critical Entry Points—Genetics and Epigenetics
• Chapter 3 Critical Entry Points—Microbiome
• Chapter 4 Factors Modulating the Disease Endotype
• Chapter 5 Revised Disease Nomenclature Including Disease Endotypes

Chapter 1

The Audacious Goal of Precision Medicine

Ioana Agache¹ and Peter W. Hellings^2,3,4, ¹Faculty of Medicine, Transylvania University, Brasov, Romania, ²Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium, ³Laboratory of Experimental Immunology, University Hospitals Leuven, Leuven, Belgium, ⁴Department of Otorhinolaryngology, Academic Medical Center, Amsterdam, The Netherlands

Abstract

Before the precision medicine approach is broadly advocated, there is an urgent need to show robust data on its value by continuously measuring and documenting its benefit. Improved understanding and common usage of the endotype-driven approach at the point of care combined with real-time full patient monitoring and feedback using novel digital technology are key steps to advance the implementation of the precision medicine concept.

Keywords

Phenotypes; endotypes; biomarkers; point of care; pathway-specific diagnostic tests; data-driven policies; precision medicine; cost-effectiveness

Precision medicine is an ambitious concept integrating the endeavors of research, daily clinical practice, and healthcare. Tailoring prevention, diagnostics, and therapeutics to individual patients, while reinforcing the participation of the patient in the decision-making process is at the heart of precision medicine. The goal of precision medicine is simple—offer individual patients exactly the right medical care at the right time, taking their genes, lifestyle, and environment into account. The creative and energetic involvement of many is required to achieve the ambitious goal of precision medicine, from biologists, physicians, and technology developers to data scientists, patient groups, governments, and many more. Global, multidiscipline partnerships, innovative health, IT, and rethinking healthcare are important prerequisites to move the field forward. Both science and policy priorities need to be defined, agreed, and implemented upon.

Precision medicine is impacting healthcare in several domains, from pharmacogenomics, better selection of treatment responders, risk prediction, and design of disease-modifying strategies to ethics and patient-centered care models.

Improved understanding and common usage of disease phenotypes, endotypes and biomarkers at the point of care, validation, qualification of biomarkers and their translation into pathway-specific diagnostic tests, full patient monitoring using novel biomarkers digital technology and a revised disease taxonomy based on disease endotypes—are all key steps to bring precision medicine to the clinic. Learning how healthcare professionals engage with and use precision-medicine care pathways and what resources are needed to promote high-quality care of patients will serve to orient the dynamic governance that includes all stakeholders and is designed to remain agile and responsive to emerging opportunities and experience.

Implementing precision medicine in a clinical setting requires seamless integration of data from clinical evaluations and biomedical investigations with genomics and other endotyping profiling to characterize an individual patient’s disease progression followed by mainstreaming of all these data back to the point of care in a format that is ready and easy to use by the clinician. Designing methods for streaming data capture, real-time data aggregation, machine learning, predictive analytics, and visualization solutions to integrate wellness or health monitoring data elements with the electronic medical records maintained by healthcare providers permits better resource utilization. Establishing data-driven policies to balance privacy and security concerns with participant and public interests in the sharing of data for research, remains a major challenge.

There is limited evidence that precision medicine care pathways improve clinical outcomes and increase cost-effectiveness and affordability leading to a better quality of care. Reconciling concerns about rising costs, accessibility, and affordability of the precision medicine approach is central to the debate over implementing precision medicine at a larger scale. We need to encourage “valuable” innovation and enterprises willing to assume the risk in developing precision medicine approaches, while continuously measuring and documenting the benefit.

Before the precision medicine approach is broadly advocated, there is an urgent need to show robust data on its value. An agreement between all stakeholders on a flexible framework balancing the use of randomized control trials (the golden standard for evidence at present) against “big data” and observational analysis, while including health–economic impact analysis (encompassing cost-effectiveness and long-term savings) for regulatory and payer approval, are essential steps to move the field forward.

Further Reading

1. Bahk CY, Goshgarian M, Donahue K, et al. Increasing patient engagement in pharmacovigilance through online community outreach and mobile reporting applications: an analysis of adverse event reporting for the essure device in the US. Pharmaceut Med. 2015;29(6):331–340.

2. Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372:793–795.

3. Dzau VJ, Ginsburg GS, Van Nuys KD, et al. Aligning incentives to fulfill the promise of personalised medicine. Lancet. 2015;385(9982):2118–2119.

4. Gibson CJ, Dixon BE, Abrams K. Convergent evolution of health information management and health informatics: a perspective on the future of information professionals in health care. Appl Clin Inform. 2015;6(1):163–184.

5. Goldman D, Gupta C, Vasudeva EK, et al. The value of diagnostic testing in personalized medicine. Forum Health Econ Policy. 2013;16(2):121–133.

6. Greene SM, Tuzzio L, Cherkin D. A framework for making patient-centered care front and center. Perm J. 2012;16(3):49–53.

7. Holeman I, Cookson TP, Pagliari C. Digital technology for health sector governance in lo...