The Patient is in the Center of the Compass Needle towards Navigating Medicine 4.0

 150 years ago Virchow at the Charité in Berlin declared looking through the microscope the age of cellular patholgy. When in 2000 the first Humane Genome was sequenced the new age of molecular pathology and molecular medicine was born and the pardigm shift towards Precision Medicine started. Steve Jobs – the founder of Apple – said: „The next global innovation wave will come out of the crossover between biology and information technology“, in other words „Value-based Precision Medicine is Biology first, IT second“.

Due to advanced next-generation-sequencing technologies the price for the first whole genome sequencing by Craig Venter & the Human Genome Project of about 3 Billion $ in 2000 is falling faster than Moor`s Law in IT predicts. Since 2016 NGS-Whole Genome Sequencing costs less than 1.000 $. Today molecular pathology is on its way to become part of the standard diagnostics and clinical routines. Allowing millions of patients for the first time in modern medical history to get their individual precise molecular diagnosis to end the age of imprecise medicine and to start the age of individually tailored therapies to optimize value-based patient outcomes:

 

Source: “Towards Precision Medicine”, National Academy of Sciences (USA)

Democratization of Medicine

The molecularisation and digitalization of medicine with all the new technologies

• Wireless Sensors
• Genomics, Transcriptomics, Proteomics, Metabolomics, Epigenomics
• Imaging
• Information Systems
• Mobile connectivity and bandwidth
• Internet
• Social Networking
• Growing computer power
• Big Data performance

together enable a Super Convergence (Source: Eric Topol) towards Precision Medicine and Regenerative Medicine making medicine totally transparent to bring value to every patient – the result is the Democratization of Medicine that will optimize the performance and the outcome for every patient.

Today empowered patients and societies are using approx. 8 billion cell- and smartphones and are together with the IT-Industry the new stakeholders and driving forces in the health sciences industry. Science, medicine and medical systems are in transformation, welcoming the new era of molecular pathology and molecular therapy empowerd by information technology. What we call this new era of “SILICON VALLEY MEDICINE” (Henri M. von Blanquet in “Die Neuvermessung der Gesundheitswirtschaft”, Springer 2017). Around the globe, regulators and payers are more and more demanding robust evidence to demonstrate value and validated outcomes for patients and society. Large provider systems are bearing higher risks and consumers are shouldering the increasing cost of care. As these trends escalate, there is a mounting pressure for change. PRECISION MEDICINE ALLIANCE helps you to navigate towards value-based solutions for patients and Precision Medicine will change all our lives.

Imprecision Medicine and Barriers to progress

The current „taxonomy of disease“ is a barrier to progress (Source: Keith R. Yamamoto, UCSF, USA):

• Descriptive: Disease classifictaion is based predominantly on symptoms and organs.
• Inflexible: Creates rigid silos in research, diagnosis & therapy, education and funding.
• Narrow: No natural fit for new fundamental discoveries; no rationale for building continium of research and clinical care.
•  

Don’t forget that the “normal” Biology is complicated, therefore disease, as a deviation from health, is similary complex. We need an integrated understanding of the new multiple molecular levels and the “traditional” levels of medicine to deeply understand the individual diseases on multiple levels to bring tailored diagnostic and therapy to the individual. The traditional „one-fits-all“ pharma concept delivers value only to a small subgroup of patients – this Imprecision Medicine is absolutly non-ethical in our modern societies and damages the lives of patients and national economies in the billions of dollars:

Today medicine is moving through an Inflection Point based on the Super Convergence in the cross-over Biology and IT. Based on technology and synchronically by integrating and developing a working continuum to create a precision medicine value-chain:

• The Integration: Aggregate and analyze biological information, incorporating concepts and technologies of physical sciences, engineering and computer science
• The Working Continuum: From fundamental discovery, to translation, to clinical research, to clinical practice, to citiziens – „from bench to bedside & from bedside to bench and society“
• The Super Convergence: From Imprecision to Precision Medicine (Eric Topol „The Creative Destruction of Medicine – How the digital revolution will create better healthcare“

The Precision Medicine Value-Chain and the Big-Data Challenge

 

The molecular-digital Transformation of Medicine is creating a new multi-stakeholder value-chain for Health Sciences Business.

 

• Precision Medicine will aggregate, integrate and analyze biological information, drawing on vast collections of data to produce health advice and predictions, and disease diagnosis, tailored to the individual
• Precision Medicine will be enabled by computional information commons, within which correlations produce a knowledge network, generating new hypothesis, illuminating mechanisms of disease, and etstablishing links between diseases thought to be unrelated
• Precision Medicine will revolutionize development and deployment of therapies, as well as principles of clinical practice, by allowing all stakeholdres to benefit from and participate in the research, health and health industry
• Precision Medicine will revolutionize development and deployment of therapies, as well as principles of clinical practice, by allowing all stakeholdres to benefit from and participate in the research, health and health industry

This multilayer Precision Medicine Value-Chain needs the Synchronization of some hundreds of Hospital Providers on an scaleable international Platform to share the Knowledge-Network like an Information Common in an certified democratic value-based open source system together to deliver this individualizable medical information to every patient needed – by dataethics rules there should be no limitation to access to medical information in the age of precision medicine:

Source: “Silicon Valley Medicine” by Dr. Henri Michael von Blanquet in “Die Neuvermessung der Gesundheitswirtschaft”, Springer Gabler 2017 and “Towards Precision Medcine” by The National Academies of Science Committee on “A Framework for Developing a New Taxonomy of Disease”, National Academy of Sciences, 2011

 

Precision Medcine is an integration and interpretation challenge to be addressed and solved together by an synchronized hospital provider network and platform for value-based precision medicine: 

• Sequencing one human genome generates about 200 gigabytes
• Each cancer is molecularly different, each patient has an individual molecular cancer disease
• Countless drug combinations and co-medications
• Complex co-morbidities
• Complex medical conditions
• The non-responder problem
• Adverse drug effects and drug side effects
• Molecular diesease matching in pharmagenomics with tousends approved medications
• Navigating the individual patient by matching thousands of clinical studies
• Millions of scientific publications can`t be analyzed by the medical doctors to optimize every unique case, which publication is valuable can`t any more be judged by the MD`s alone

 

 

 

Precision Medicine will be organized in database-layers like Google Maps

Today like in Google Maps every patient needs to be for an accurate diagnosis digitized in several molecular levels (genomics, transcriptomics, epigenomics, mircobiomics, exposome). For most molecular diseases (Cancer, Immunologic & Inflamatory and Metabolic Diseases) the analysis of their Genome and Transcriptome will give enough deep insight to find the right indivdual pharmagenomic treatment towards better outcome and surviving for the patients. Precision Medicine takes individual variation into account: variation in our genes, environment, lifestyle, and even in the microscopic organisms that are living inside of us. “The best chance of favorable outcome is getting the initial therapy after molecular individual diagnosis right.”: Precision Medicine First.

Source: “Towards Precision Medcine”, National Academy of Sciences (USA)

Beyond the genome: Understanding how genetic variations contribute to health is just one aspect of precision medicine. While the genome is set for life, the expression of our genes fluctuates over time and in response to the environment. Additional approaches to precision medicine involve measuring levels of proteins, RNAs, or metabolic products. Along with genomics, proteomics, epigenomics, and metabolomics can help inform medical choices for individual patients. The field also incorporates what we are learning about the microbes that live in and on our bodies and how they can be manipulated to influence health and disease. It combines the latest in stem cell science with 3D printing technology to build replacement skin, blood vessels, and bones. It includes techniques for engineering a patient’s own immune cells to attack cancer and other diseases, and computer algorithms for building customized diets for diabetic patients.

Beyond treating disease, precision medicine includes approaches to diagnostics, prevention, and screening:

• Methods for identifying those who are at risk before disease strikes;
• Analytical tools for predicting which prevention strategies will work best for which patients;
• Screening methods that can identify early signs of disease before symptoms emerge;
• Diagnostic methods for identifying subtypes of disease that may look the same on the surface but respond very differently to treatment;
• Tests that can identify disease carrier status for prospective parents;
• Devices for managing diseases and for tracking and guiding recovery

High performing precision medicine ecosystems will reduce healthcare costs. To achieve this Tipping Point in the transformation process the leadership of all stakeholders is needed to save our national health economies, our civilizations and our ethical believe-systems. Continuing on the level of permarnently rising healthcare costs caused by imprecise medicine will soon or later lead to the collapse all our healthcare systems worldwide. Towards Precision Medicine is a fundamental transformation of healthcare politics, national health economics and the traditional business models of the „old“ stakeholders in the healthcare industry that will need to change.

The key driving force towards value-based precision medicine are our patients by democratization of health information on their fingertips via smartphones towards a totally transparent medicine. We have to measure the medical outcomes in a global standardized setting – this is key in precision medicine.

Bibliography

 

Definition of Precision Medicine by the National Cancer Institute (NCI): www.cancer.gov/publications/dictionaries/cancer-terms/def/precisionmedicine

National Research Council. Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease. Washington, DC: National Academies Press, 2011 www.nap.edu/catalog/13284/toward-precision-medicine-building-a-knowledge-network-for-biomedical-research)

A New Initiative on Precision Medicine, Francis S. Collins, M.D., Ph.D., Harold Varmus, M.D., N Engl J Med 2015; 372: 793-795

Abrams J, Conley B, Mooney M, et al. National Cancer Institute’s Precision Medicine Initiatives for the new National Clinical Trials Network. Am Soc Clin Oncol Educ Book 2014:71-6.

Samuel J. Aronson, Heidi L. Rehm; Building the foundation for genomics in precision medicine, Nature volume 526, pages 336–342 (15 October 2015)

Eric J. Topol, Individualized Medcine from Prewomb to Tomb, Cell Volume 157, Issue 1, 27 March 2014, Pages 241-253

Andrew R Harper & Eric J Topol, Pharmacogenomics in clinical practice and drug development, Nature

Henri M von Blanquet, Was kann die Gesundheitswirtschaft von der Präzisionsmedizin lernen? Warum das Silicon Valley weltweit die Medizin antreibt; Neuvermessung der Gesundheitswirtschaft (Springer Gabler) 2017: 269-278