Personalizing Precision Medicine

The author uses decades of experience and interviews with experts in precision medicine to explain past, present, and future of precision medicine. She reviews the full continuum of personalizing precision medicine, including diagnostics, therapeutics, big data, supportive care, regulation, and reimbursement and innovation in precision medicine worldwide.

• Combines a unique cross section of history, current technologies, and future directions for how precision medicine has and will affect people worldwide
• Reviews precision medicine around the world, including the US, China, Japan, the Middle East, India, Europe, and Latin America
• Discusses a number of diseases areas – cancer, cardiovascular, neurodegenerative, infectious disease, pain, immunology, rare diseases
• Includes information and quotes from over 100 interviews with key industry experts in biotech, pharma, informatics, diagnostics, health providers, advocacy groups, and more
• Includes stories illustrating current issues and future promises in precision medicine for a human touch

Acknowledgments vii

Introduction ix

Methodology xiii

About the Author xv

Part 1 The History 1

1 The Right Drug, the Right Patient, the Right Time: Foundations of Precision Medicine 3

2 Decision‐Making Machines: Diagnostics in Precision Medicine 27

3 Precision Medicine around the World: Europe 37

Part 2 The Present 51

4 Our Reality Today: The Patient Journey in Precision Medicine 53

5 Toward the Day We Just Call It “Medicine”: Access to Precision Medicine 65

6 Precision Medicine around the World: Japan 81

7 Shifting Rules: Regulation and Reimbursement in Precision Medicine 89

8 Precision Medicine around the World: Latin America 105

9 Patients as the Poorest Princesses: Supportive Care in Precision Medicine 125

10 Informatics under the Hood: Information in Precision Medicine 135

11 Precision Medicine around the World: India 149

Part 3 The Future 157

12 A Personalized Stomach: Precision Medicine beyond Cancer 159

13 Consumer is King: Consumer Applications of Precision Medicine 181

14 Precision Medicine around the World: The Middle East 197

15 Sci‐Fi Potential: CRISPR as the Next Novel Frontier in Precision Medicine 207

16 Precision Medicine around the World: China 223

17 A New Hope: The Future of Precision Medicine 231

Afterword 241

Index 243

“A tour de force - Kristin brings Precision Medicine into focus with clear and practical commentary. Personalizing Precision Medicine is exactly what healthcare establishment needs now - how to make it real and cost effective.” – Mara Aspinall, President and CEO, Health Catalysts, Co-Founder, Arizona State University School of Biomedical Diagnostics

“As a surgeon, I find the importance of precision surgery to be obvious, but describing precision medicine has been a challenge – until now! Kristin explains it all, from the basic science to compelling, personal stories that make the science come to life. It helps us examine precision medicine from all angles and helps us as physicians explain it comprehensively to others.” – Tenley Albright, Director of the MIT Collaborative Initiatives, former surgeon, and World and Olympic Champion figure skater

“As a young patient with breast cancer, it was overwhelming to research every aspect of my care to make sure it was personalized for me. This book, Personalizing Precision Medicine, should be one of the very first tools to educate people like me, and those professionals who supported me. The facts, mixed with personal stories from all around the world, were something I wish I’d had when I was first diagnosed.” – Liz Lord, Breast cancer slayer, former US diplomat and owner of ArlVa Homes LLC

Kristin Ciriello Pothier started her career sequencing for the Human Genome Project and has subsequently spent more than 20 years in strategy consulting and scientific and clinical research in the healthcare and life sciences industries. She is a leader in precision medicine business strategy and in clinical laboratory innovation, developing product and service strategies and operations worldwide, and is a noted speaker and writer in the healthcare industry. She lives in Massachusetts with her husband and their two lively children.

Personalizing Precision Medicine dives into the dynamic world of precision medicine and how it has evolved under the influence of the researchers, physicians, companies, payers, and patients who are translating vision to reality. Each aspect of this burgeoning field is illustrated in the context of scientific, clinical, commercial, and cultural milestones worldwide.

This should be your first read if you are a business leader interested in how to navigate the precision medicine space, a friend supporting a loved one with a cancer diagnosis, an educator trying to explain medical complexity today, or someone just curious how the explosion of personalized data and the convergence of historically separate stakeholders has transformed the global healthcare landscape for the healthy and the ill. Here, both the science and the human impact of precision medicine are united in a single, approachable volume.

Based on Pothier's decades of experience in precision medicine, her research into the evolution of the field, and over 100 interviews with industry leaders, physician thought leaders, and patients and their caregivers, Personalizing Precision Medicine highlights the triumphs and challenges of precision medicine on a global scale.