Personalizing Precision Medicine

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.

• Acknowledgments viiIntroduction ixMethodology xiiiAbout the Author xvPart 1 The History 11 The Right Drug, the Right Patient, the Right Time: Foundations of Precision Medicine 32 Decision‐Making Machines: Diagnostics in Precision Medicine 273 Precision Medicine around the World: Europe 37Part 2 The Present 514 Our Reality Today: The Patient Journey in Precision Medicine 535 Toward the Day We Just Call It “Medicine”: Access to Precision Medicine 656 Precision Medicine around the World: Japan 817 Shifting Rules: Regulation and Reimbursement in Precision Medicine 898 Precision Medicine around the World: Latin America 1059 Patients as the Poorest Princesses: Supportive Care in Precision Medicine 12510 Informatics under the Hood: Information in Precision Medicine 13511 Precision Medicine around the World: India 149Part 3 The Future 15712 A Personalized Stomach: Precision Medicine beyond Cancer 15913 Consumer is King: Consumer Applications of Precision Medicine 18114 Precision Medicine around the World: The Middle East 19715 Sci‐Fi Potential: CRISPR as the Next Novel Frontier in Precision Medicine 20716 Precision Medicine around the World: China 22317 A New Hope: The Future of Precision Medicine 231Afterword 241Index 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