Individuals and families affected by genetic conditions, numbering in the millions all over the globe, suffer a great deal. While many do not yet label themselves as affected, we all carry dozens of deleterious mutations, many of which contribute to the myriad of common conditions from which we suffer. Although the human genome sequence was finished in 2000— seven years before this Summit—we are not at a point of regular translation of basic science to improved human health. We must accelerate the pace of translation. To do this, we must understand the bottlenecks, discover the communication disconnects, and pave the way to increased collaboration leading to the discovery that is within our reach.

Genetic Alliance convened this Summit as ‘open space’; a place where all stakeholders could come and freely offer their concerns, opinions, and resources. We sought a safe place for truth telling, and we are grateful for the many stakeholders who rose to the occasion.

Contents

• Planning Committee
• Introduction
• Welcome & Context
• The Department of Health and Human Services and Personalized Healthcare
  • HHS Goals
  • Challenges
  • HHS Personalized Healthcare Report
• Survey of the Characteristics of a Range of Tests
  • Warfarin
  • Genetic Constitution
  • Trouble
  • Patient Education
  • With Choice Comes Decision
• Research and Development (R & D) Opportunities and Challenges
  • A Deluge of Discovery
  • The Cancer Genome Atlas
  • Intellectual Property
  • Policy and Database Needs
  • Biobanks
  • The Computer Industry as a Model
  • Industry Perspectives
  • World Health
  • Balancing Regulation and Innovation
• Translation and Test Development
  • Analysis of the Translational Stage
  • Study Design
• Clinical Delivery/Commercialization Roundtable
  • Commercialization Process
  • Privacy Concerns
  • Reimbursement
  • Cost and Value
• What Needs Oversight and Who Should Do the Overseeing?
  • FDA Perspective
  • ACLA Perspective
  • Audience Input
  • Notes for Day One
• Ensuring Laboratory Quality
  • Current Regulation Structure
  • Proficiency Testing
  • Clinical Validity
• Discussion of the Role of FDA in Oversight
  • FDA Authority
  • Current Regulatory Scheme
  • FDA Guidance
  • Suggestions for Improvement
  • A Variety of Perspectives
• FDA Response
• Breakout Groups: Reimbursement, Regulation, Policy and Legislation
  • Reimbursement
  • Regulation
  • Policy and Legislation
• Role of Professional, Laboratory, and Patient Guidelines and Best Practices: the Cystic Fibrosis Guidelines Testing Story
• Practice of Medicine
  • Rare Diseases
  • Primary Care Physicians
  • Pathologists
  • Tension Between Science and Art
• Recurring Themes
• Wrap Up and Next Steps
• Notes for Day Two
• Conclusion
• Glossary

Summit Dates: September 20 & 21, 2007