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					Role of Disease Specific
 Advocates in Ensuring
 Quality Genetic Tests

     Andy Faucett, MS, CGC
  afaucett@genetics.emory.edu
Emory University School of Medicine
CDC – Interagency Professional Agreement (IPA)
   NIH – ORD – CETT Program Coordinator

              Department of Human Genetics
                             Lisa and Ira

 Samples for laboratory QC/QA

 Laboratory Reports and Communication
 Issues
      Understanding Quality Testing

 All labs have errors

     Quality labs have process to recognize
      them and improve
 Labs are different – limited oversight of
  genetic testing currently
 Many tests have limitations – an error may
  be limitation of knowledge
 Testing negative often doesn’t mean NO
                                       CLIA

 Required anytime results are given to
 patient or healthcare provider that
 might be used in medical care
 No research exemption, $ not issue

 CLIA is a minimum

 Also look for ACMG, AMP, CAP,
 others
                            Advocates Can

 Participate in research

 Gene discovery
 Population studies

 Mutation / variation studies
                            Advocates Can

 Encourage Test Translation

     Link researchers and clinical labs
     Consider funding
     Ensure testing meets community needs
                        Advocates Can

 Discourage research non-CLIA labs from
 offering testing
                           Advocates Can

 Advocate / require testing in all applicable
  scenarios
     Diagnostic testing
     Carrier testing
     Predictive testing
     Prenatal diagnosis
     Pre-implantation genetic diagnosis
                            Advocates Can

 Provide information about testing

     Available
     Why important
     Need to re-test if had “research” testing
      before
     Confusion around negative by test,
      positive by clinical signs
                            Advocates Can

 Provide feedback to testing community

     Needs of community – meeting?
     Reports and other literature
     Reasons testing used / not used
                              Advocates Can

 Help with communicating limitations of
 testing
     All tests have limits
     Individuals who test negative but have
      condition
     Need for re-testing
     Why family members might be needed
          Advocates In A Strong Role

 CETT Program

     www.cettprogram.org
 Learn more

     Sunday 10:15
     “Clinical and Laboratory Issues in
      Genetic Testing of Rare Hereditary
      Disorders”
             CETT Program Objectives


• New genetic test development
• Translate from research to clinic
• Education about each rare genetic
  disease; research opportunities &
  clinical impact
             CETT Program Philosophy

All parties benefit when:

Quality of testing for rare disorders
 meets or exceeds existing standards
Clinical laboratories, researchers,
 clinicians, and disease specific
 advocacy groups collaborate
High-quality educational materials
 explain what the test can and cannot tell
 you and how best to use the test
                             Applicants =
                  Collaborative group


Clinical (CLIA-certified) laboratory

Researcher (laboratory and/or
 clinician)

Disease specific advocacy group
                  Advocate Mentors

Group of disease specific advocate
 leaders
Resource to each collaborative group
Assigned early in the process
                             Contact Info

 Andy Faucett

     afaucett@genetics.emory.edu
     404-727-4510
     info@cettprogram.org

				
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posted:9/13/2012
language:English
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