Collaboration: The Foundation for Success in Rare Disease Genetic Test Development

摘要

In the United States, a rare disease is defined as a condition affecting fewer than 200,000 individuals. The National Institutes of Health (NIH) estimates there are more than 6,000 rare diseases affecting 25 million Americans. For many years, stakeholders in the rare disease community have been concerned about the limited availability of quality genetic tests for these conditions. At the national level, numerous committees, task forces, conferences, workshops, reports, and recommendations have addressed this problem (Ledbetter and Faucett, 2008).