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| Promoting Quality Laboratory Testing for Rare Diseases: |
| Key to Ensuring Quality Genetic Testing |
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| May 20-21, 2004 |
| Atlanta, GA |
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| Executive Summary |
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| Background |
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Rare diseases 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 these patients and their families. However, genetic testing is currently available for
only a small portion of rare diseases. Additionally, for many conditions testing may be available from only one or a few
laboratories worldwide, from a single foreign laboratory, or from laboratories primarily conducting research studies. Currently,
there is no established process to move potential tests from the research phase to a clinical laboratory setting.
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| Conference |
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In May 2004, the Centers for Disease Control and Prevention (CDC), Emory University, 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, organized a "
Promoting Quality Laboratory Testing for Rare Diseases: 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. The goals of the conference included: 1) review of the current rare
disease testing landscape; 2) discussion of problems and concerns regarding the quality, availability, access, and resources for
rare disease testing; 3) identification of the needs and barriers to quality testing; 4) exploration of potential approaches to
promoting quality laboratory testing; and 5) development of specific recommendations and action items for improving availability
of and access to quality laboratory testing for rare diseases.
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| Recommendations |
The conference included plenary presentations with brief discussion, two focused discussion sessions with concurrent
breakout groups, and a summary session with breakout group reports and additional input from participants. Deliberations
of the breakout groups led to both broad and specific recommendations for initiatives in six major areas:
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Education to promote quality translation of research findings into clinical testing and to advance understanding of quality standards
for patient testing. Appropriate strategies and teaching materials should be developed for the research community, institutional
review boards (IRBs), providers and users of laboratory services, healthcare payers, patients, research participants, and advocacy
groups, to minimize adverse impact on access to testing.
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Guidance, strategies, and criteria for evaluating the clinical readiness of potential tests. Issues needing further exploration
include how newly developed rare disease tests should be validated, and how analytic validity, clinical validity, and clinical
utility should be established for rare disease tests.
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Reasonable and achievable quality assurance strategies for clinical genetic testing for rare diseases.
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Mechanisms and strategies to promote quality data collection during each step of test development
through clinical application.
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Partnership and networks
to improve and facilitate research translation, data sharing, clinical availability, and quality assurance.
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Infrastructure to provide momentum and enable development of activities needed, including facilitating
the translation process, assuring the quality of testing services, and improving access to testing.
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| Immediate Outcomes |
The conference concluded with the following immediate outcomes and next steps:
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The North American Rare Disease Laboratory Network was reinstated and expanded to consist of six reference laboratories.
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The American Society of Human Genetics and other professional organizations agreed to organize educational activities
and develop guidance for rare disease genetic testing.
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The Office for Human Research Protections (OHRP) committed to providing education to IRBs regarding their role
in safeguarding the release of individual test results in clinical research.
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A follow-up conference, proposed to be an "Integration Conference", will be held in six months to convert the
recommendations into projects and action items, and to develop additional recommendations for issues needing
further consideration.
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| Rare Disease Conference |
This page last reviewed: 09/02/2004
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