Oversight of Genetic Testing in the United States

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Oversight of Genetic Testing in the United
States Juli Murphy, M.S. Genetics and Public
Policy Center
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Growth of Genetic Testing
Data source GeneTests database (2005) /
www.genetests.org
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Genetic Testing in Medicine

• Genetic testing is playing an increasing role in
  healthcare delivery
• Genetic test results can be the basis for
  profound medical decisions
• Therefore, it is necessary to ensure that test
  results are accurate

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Sources of Oversight
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Federal Oversight
Department of Health Human Services
Center for Medicare Medicaid Services
Food Drug Administration
Centers for Disease Control Prevention
Advice
Regulates drugs, devices, biological products,
human tissue
Certification of clinical laboratories,
personnel standards, QA/QC, proficiency testing
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FDA Regulation of Genetic Tests

• Premarket review and approval
• Analytic validity
• Clinical validity
• Intended use

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CMS Regulation of Genetic Tests

• Clinical Laboratory Improvement Amendments of
  1988 or CLIA
• CLIA applies to all laboratories performing
  medical testing, including genetic testing
• CLIA requires laboratories
• Follow general QC procedures
• Maintain laboratory equipment
• Keep appropriate records
• Have appropriately trained personnel
• Perform proficiency testing

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CMS Regulation of Genetic Tests

• Specialties under CLIA
• PT
• Specific personnel and QC
• No specialty has been created for most genetic
  tests.
• No genetic testing-specific proficiency testing.
  
• Voluntary proficiency testing for only 17
  molecular genetic tests.

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Regulation varies based on how the genetic test
is performed in the laboratory
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Types of Genetic Tests
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Types of Genetic Tests
Kitchen Inspection (CLIA) Chef with culinary
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Kitchen Inspection (CLIA) Chef with culinary
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What is Not Currently Subject to Federal
Oversight?

• No premarket approval of most genetic tests.
• Individual laboratories decide what tests to
  offer and when.
• True for genetic tests used in adults, children,
  prenatally, or in PGD.
• Only handful of tests that have been approved by
  the FDA
• CMS has not created specialty area for most
  genetic tests under CLIA, unlike other complex
  tests

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Cracks in Genetic Testing Landscape
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Genetic Testing Quality Initiative

• laboratories must have quality control and
  personnel standards in place
• tests must be valid and reliable
• health care providers must understand when to
  order the tests and how to interpret results

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The Pew Charitable Trusts