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Precision medicine is typically associated with the use of therapies that target particular disease-linked genetic mutations, identified via a diagnostic test.
Hurdles remain to widespread implementation of precision medicine, despite its potential to transform drug development and clinical practice.
Precision medicine is typically associated with the use of therapies that target particular disease-linked genetic mutations, identified via a diagnostic test. However, the term – sometimes used interchangeably with personalized medicine – has recently come to describe the much broader idea of getting the most appropriate therapy to the right patient at the right time, using any number of tools and technologies, whether molecular, digital, or other.
Precision medicine has the potential to transform healthcare delivery, quality, and efficiency. It is already changing how pharmaceutical firms approach R&D, offering the prospect of being able to conduct faster, smaller, and cheaper trials. Yet the practice of precision medicine remains rare. Its widespread adoption faces scientific, infrastructural, economic, regulatory, educational, and commercial hurdles. While these are slowly being addressed, particularly in oncology, across most of healthcare, precision medicine remains tomorrow’s, rather than today’s, opportunity.
CONTENTS
5 EXECUTIVE SUMMARY
5 What is precision medicine?
5 Drivers and resistors of precision medicine
5 The outlook for precision medicine
7 WHAT IS PRECISION MEDICINE?
8 Beyond molecularly defined medicines and pharmacogenomics
9 Right therapy, right patient, right time
10 Data infrastructure is critical
11 Disruptive innovation demands cultural change
12 Precision medicine: more theory than reality – for now
12 Bibliography
15 PRECISION MEDICINE AND THE SHIFT TO VALUE-BASED CARE
15 Theoretically part of value-based, patient-centric care, but savings are a long way off
15 A wider form of precision medicine is tractable
20 Bibliography
21 DRIVERS OF PRECISION MEDICINE
21 Scientific advances
22 Data collection and infrastructure efforts are multiplying
22 Tech giants are racing into healthcare with precision medicine-ready data hosting and processing
23 Precision medicine promise spawns specialist start-ups
23 Collaborations and consortia multiply to gather data and set standards
25 Digital health technologies and patient empowerment enable precision medicine
25 Digital biomarkers may also help shape more precise medicine
26 Regulators support precision medicine
26 Bibliography
31 PRECISION MEDICINE FACES SIGNIFICANT HURDLES
31 More knowledge means more complexity
31 Data interpretation is the hardest part
32 Data infrastructure is lacking
32 Biomarkers and diagnostics are struggling
33 New, cross-disciplinary regulatory challenges
34 Bibliography
37 PRECISION MEDICINE CASE STUDIES
37 Intermountain’s Precision Genomics
38 Swedish Cancer Institute
38 Geisinger Precision Health Center
38 France’s National Cancer Institute drives personalized medicine
39 Norwegian Cancer Genomics Consortium
39 Genomics England’s 100,000 Genomes Project
40 Bibliography
43 PRECISION MEDICINE AND PHARMA
43 Diagnostic-linked candidates are filling pipelines
43 Targeted drugs may lower reimbursement risk
44 Precision medicines do not necessarily garner higher sales
44 Digital technologies encourage patient-centric, personalized solutions
44 Partnerships are critical for all forms of precision medicine
45 Bibliography
48 THE OUTLOOK FOR PRECISION MEDICINE
48 Precision medicine is a long-term game
48 Insurers start to reimburse genome sequencing tests
49 Widespread precision medicine is unlikely to be affordable or practicable
49 Bibliography
51 APPENDIX
51 About the author
51 Scope
51 Methodology
LIST OF FIGURES
9 Figure 1: Degrees of targeting of precision medicine treatments
LIST OF TABLES
7 Table 1: Select government-driven precision medicine initiatives
17 Table 2: Drivers and resistors of precision medicine
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