The Promoting Quality Laboratory Testing for Rare Diseases: Keys to Ensuring Quality Genetic Testing conference, organized by the Centers for Disease Control and Prevention (CDC), Emory University School of Medicine, the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), the American Society for Human Genetics (ASHG), the American College of Medical Genetics (ACMG), the Health Resources and Services Administration (HRSA), and the Genetic Alliance, was held on May 20-21, 2004, at the Emory Conference Center in Atlanta, GA. Participants of the conference included more than 50 experts from government, academic institutions, professional organizations, laboratories, industry, healthcare payers, and patient advocacy groups. The main goals of the conference included: 1) to review the current rare disease testing landscape; 2) to discuss problems and concerns regarding the quality, availability, access, and resources for rare disease testing; 3) to identify needs and barriers to quality testing; 4) to explore potential approaches to promoting quality laboratory testing; and 5) to develop specific recommendations and action items for improving availability of and access to quality laboratory testing for rare diseases.

The meeting began with welcoming remarks by Dr. David Ledbetter, Director, Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine; Dr. Stephen Groft, Director of ORD, NIH; and Dr. Muin Khoury, Director of Office of Genomics and Disease Prevention (OGDP), CDC. Dr. D. Joe Boone, Associate Director for Science, Division of Laboratory Systems (DLS), Public Health Practice Program Office (PHPPO), CDC, gave an overview of the agenda and goals of the conference.