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Oct. 6-7, 2006
Atlanta, GA
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Biochemical genetic testing is considered an important area of laboratory testing for genetic diseases. For example, biochemical genetic tests are essential for the detection, diagnosis, and evaluation of inherited metabolic diseases by determining genetic defects in specific metabolic pathways, refining initial diagnosis, and aiding in treatment and management of affected children and their families. However, gaps have been recognized in the development, availability, sustainability, and quality assurance measures in this testing area, particularly in comparison to the rapid growth of DNA-based genetic testing as a result of recent advances in human genomics and biotechnologies. Among the concerns raised by the laboratory, health care provider, and patient communities are the following:
- Many biochemical genetic tests are highly specialized and may be available from only one or a few laboratories in the U.S., or only from foreign laboratories. Access to testing services may become a problem when the laboratories discontinue testing services.
- There is no established process to move potential tests from the research phase to a clinical laboratory setting.
- Quality control (QC) materials needed for test validation, QC, and external quality assurance (EQA) or proficiency testing (PT) purposes are often not publicly available.
- EQA/PT programs are available from limited sources and often do not have established criteria for evaluating the quality of test performance.
- Variable degree of collaboration exists between biochemical and molecular testing laboratories in developing testing strategies that meet all of the communities needs, including diagnostic testing, carrier testing and prenatal testing.
- Concerns about reimbursement, liability, and other issues may restrict laboratories from offering certain testing services, such as prenatal diagnosis.
- Information regarding availability of testing services and inter-laboratory comparison programs is not always readily accessible.
- Shortage exists both in trained laboratory personnel and in personnel training programs.
These concerns are starting to be recognized and discussed, particularly at the May 2004 "Promoting Quality Laboratory Testing for Rare Diseases: Key to Ensuring Quality Genetic Testing for Rare Diseases" meeting in Atlanta, GA
and the September 2005 "Access to Quality Testing for Rare Diseases" national conference in Rockville, MD.
Both meetings were collaboratively organized by the Centers for Disease Control and Prevention (CDC), the Office of Rare Diseases of the National Institutes of Health (ORD/NIH), the American Society for Human Genetics (ASHG), the American College of Medical Genetics (ACMG), the Health Resources and Services Administration (HRSA), the Genetic Alliance, the Emory University, and several other key groups.
The "Quality, Access, and Sustainability of Biochemical Genetic Testing" working meeting, to be held on Oct. 6-7, 2006, in Atlanta, GA, represents continued collaboration of the same government agencies, professional organizations, laboratories and academic institutions, and patient advocacy groups. This meeting attempts to achieve the following goals:
- To review the current biochemical genetic testing landscape and discuss problems and concerns associated with availability, quality, access, sustainability, test development, and resources in this testing area;
- To identify needs and barriers to quality testing;
- To discuss applicability of current models and approaches to biochemical genetic testing;
- To develop specific recommendations for action items and potential roles of government agencies, professional societies, patient support organizations, academic institutions, industry, and other stakeholders in improving the quality, availability, and accessibility of biochemical genetic testing.
Organizing Committee Members (in alphabetical order):
Joe Boone, PhD (CDC)
Joann Boughman, PhD (ASHG)
Bin Chen, PhD (CDC)
Andy Faucett, MS, CGC (Emory University)
Carol Greene, MD (Society for Inherited Metabolic Disorders)
Steve Groft, PharmD (ORD/NIH)
David Ledbetter, PhD (Emory University)
Michele Puryear, MD, PhD (HRSA)
Giovanna Spinella, MD (ORD/NIH)
Sharon Terry, MA (Genetic Alliance)
Michael Watson, PhD (ACMG)
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This page last reviewed: 12/21/2006
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