Location via proxy:   [ UP ]  
[Report a bug]   [Manage cookies]                
Scribd Logo
Upload

Welcome to Scribd!

  • 19 views

    Laboratory Developed Tests

    Uploaded by

    fdablog
    This document discusses laboratory developed tests (LDTs) created by clinical genetic testing laboratories to diagnose rare genetic diseases. It notes that most genetic diseases are rare, and manufacturers have not developed tests for these due to small markets and high development costs. As a result, clinical genetic testing laboratories, which are CLIA-certified and adhere to standards, have developed tests to fill this need. However, increased regulatory requirements like GMP or 510(k) could significantly reduce viability of these laboratories and patient access to testing.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPS, PDF, TXT or read online from Scribd

    Laboratory Developed Tests

    Uploaded by

    fdablog
    19 views10 pages
    This document discusses laboratory developed tests (LDTs) created by clinical genetic testing laboratories to diagnose rare genetic diseases. It notes that most genetic diseases are rare, and manufacturers have not developed tests for these due to small markets and high development costs. As a result, clinical genetic testing laboratories, which are CLIA-certified and adhere to standards, have developed tests to fill this need. However, increased regulatory requirements like GMP or 510(k) could significantly reduce viability of these laboratories and patient access to testing.

    Original Title

    FDA-2010-N-0274-0053.1

    Copyright

    © Attribution Non-Commercial (BY-NC)

    Available Formats

    PPS, PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    This document discusses laboratory developed tests (LDTs) created by clinical genetic testing laboratories to diagnose rare genetic diseases. It notes that most genetic diseases are rare, and manufacturers have not developed tests for these due to small markets and high development costs. As a result, clinical genetic testing laboratories, which are CLIA-certified and adhere to standards, have developed tests to fill this need. However, increased regulatory requirements like GMP or 510(k) could significantly reduce viability of these laboratories and patient access to testing.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPS, PDF, TXT or read online from Scribd
    Download as pps, pdf, or txt
    19 views10 pages

    Laboratory Developed Tests

    Uploaded by

    fdablog
    This document discusses laboratory developed tests (LDTs) created by clinical genetic testing laboratories to diagnose rare genetic diseases. It notes that most genetic diseases are rare, and manufacturers have not developed tests for these due to small markets and high development costs. As a result, clinical genetic testing laboratories, which are CLIA-certified and adhere to standards, have developed tests to fill this need. However, increased regulatory requirements like GMP or 510(k) could significantly reduce viability of these laboratories and patient access to testing.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPS, PDF, TXT or read online from Scribd
    Download as pps, pdf, or txt
    of 10

    Laboratory Developed Tests

    Kathleen W. Rao, PhD


    Professor of Pediatrics, Pathology and
    Laboratory Medicine, and Genetics
    Director, Cytogenetics Laboratory
    UNC-Chapel Hill
    Member, Board of Directors
    American College of Medical Genetics
    ACMG
     The American College of Medical
    Genetics (ACMG) is a professional
    organization composed of biochemical,
    clinical, cytogenetic, medical and
    molecular geneticists, genetic
    counselors and other health care
    professionals committed to the practice
    of medical genetics.
     Fellows of the College are doctoral level
    physicians and clinical scientists who
    are Board Certified in one or more areas
    of clinical or laboratory genetics practice
    by the American Board of Medical
    Genetics (ABMG), an American Board of
    Medical Specialties (ABMS) Board
     The GeneTests website (hosted by
    NCBI) currently lists 1850 genetic
    diseases for which diagnostic testing is
    available
     Most genetic diseases fall into the
    category of rare or ultra rare diseases
     With a few exceptions, manufacturers have
    not developed and marketed testing
    reagents for use in diagnosing these
    rare/ultra rare diseases
     Financial incentives for developing reagents
    and performing clinical trials are not
    available to offset the high cost of GMP and
    the 510K/PMA process and small potential
    markets
     This has left the task of developing
    tests for the majority of genetic
    diseases to the high complexity CLIA-
    certified genetic testing laboratories
    (Clinical Genetic Testing Laboratories)
    Clinical Genetic Testing Laboratories
     Are directed by Board Certified doctoral level
    clinical scientists
     They participate in Proficiency Testing and
    rigorous laboratory accreditation programs
    through CLIA, CLIA-exempt states, and its
    deemed organizations
     Adhere to CLIA mandated standards and
    professional laboratory guidelines published
    by organizations like ACMG
     Many of these laboratories exist in major
    medical centers and serve the most severely
    affected patients and most vulnerable
    populations
     The financial burden of requiring these
    laboratories to meet GMP and/or 510K/PMA
    requirements (e.g. clinical trials) in addition to
    their current regulatory requirements would
    significantly reduce both the viability of many
    of these laboratories and access to testing for
    patients
    Potential negative consequences to increased
    regulatory requirements
     Closure of some/many medical-center Clinical
    Genetic Testing Laboratories and loss of
    training sites for future laboratory directors
     Inability to bring new tests online
     Loss of access to testing because of increased
    costs and scarce resources
     Reduction of quality of care because of less
    opportunity for collaboration between
    laboratories and clinicians and less
    competition between laboratories
     (CLIA-certified) Clinical Genetic Testing
    Laboratories have served this patient
    population well
     We believe that our patients are best
    served by taking the least burdensome
    approach to regulatory oversight of
    these laboratories

    You might also like