Genomics Day 2005: Genomics Day 2005: Public Health Genomics at CDC
Group 6: Quality Assurance
Promoting quality laboratory testing for rare diseases: key to ensuring quality genetic testing
Chen B1, Faucett WA1, Boone DJ1, Groft SC2, Spinella G2, Ledbetter DH3, Boughman J4, Greene C5, Lloyd-Puryear M6, Terry S7, and Watson M8.
(1)Division of Laboratory Services, National Center for Health Marketing, CDC,
(2)Office of Rare Diseases, NIH,
(3)Emory University School of Medicine,
(4)American Society of Human Genetics,
(5)Department of Health and Human Services,
(6)Health Resources and Services Administration,
(7)Genetic Alliance, and
(8)American College of Medical Genetics
Rare diseases and conditions collectively affect an estimated 25 million, or more than 1 in 12 individuals in the United States alone. The majority of the 6,000 rare diseases known today are considered genetic conditions, making genetic testing an essential element of the diagnosis and management of the patients and their families. However, genetic testing is currently available for only a small portion of rare diseases. For many conditions, testing may be available from only one laboratory worldwide, from a single foreign laboratory, or from laboratories primarily conducting research studies. Currently there is no established process to support and encourage the movement of potential tests from the research phase to a clinical laboratory setting. In May 2004, the Centers for Disease Control and Prevention (CDC), Emory University, the Office of Rare Disease s (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, organized a “Promoting Quality Laboratory Testing for Rare Disease s: Keys to Ensuring Quality Genetic Testing” conference, 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. Deliberations at the meeting led to six major recommendations to improve quality, availability, access, and resources for rare disease genetic testing, including 1) enhancing infrastructure to facilitate test translation process, assure the quality of testing services, and improve access to testing; 2) establish partnerships and networks to improve and facilitate research translation, data sharing, clinical availability, and quality assurance; 3) developing guidance, strategies, and criteria for evaluating the clinical readiness of potential tests; 4) develop reasonable and achievable quality assurance strategies for clinical genetic testing for rare diseases; 5) providing education to promote quality translation of research findings into clinical testing and to advance understanding of quality standards for patient testing; and 6) establish mechanisms and strategies to promote quality data collection during each step of test development through clinical application. Among the outcomes of the meeting include the reinstatement and expansion of the National Laboratory Network for Rare Diseases, educational activities, and the planning for a follow-up conference with wider audience participation to integrate the recommendations into a collaborative process to improve availability, quality, and access to genetic testing for rare diseases.