Access to quality genetic tests for rare diseases is a national concern. Though individually rare, rare diseases and conditions collectively affect a significant portion of the population. The majority of the 6,000 to 7,000 rare diseases known today are considered genetic conditions, making genetic testing an essential element of the diagnosis and management of patients and their families. However, currently the development of tests for rare genetic diseases does not keep pace with the progress of our knowledge of the genetic basis of rare diseases. The goals of this conference are to raise national awareness of the growing public need to improve the availability, quality, and accessibility of genetic testing for rare diseases and to promote development of multiple processes and models to enhance the translation of genetic tests from research to clinical practice.
This conference builds on the success of a working meeting titled Promoting Quality Laboratory Testing for Rare Diseases: Key to Ensuring Quality Genetic Testing for Rare Diseases, held in May 2004. Multidisciplinary experts and participants developed recommendations to begin addressing this important aspect of healthcare. This conference will:
- Highlight the outcomes from the May 2004 working meeting.
- Discuss plans developed based on the May 2004 meeting and progress to date.
- Encourage conference attendees to provide input and creative solutions to continue to move the process forward.
The ultimate goal of this effort is to improve health outcomes of individuals and families through:
- Access to quality rare disease tests.
- Ease of access.
- Usefulness of test results.
- Adequate follow-up systems.
- Education and support after testing is completed.
