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Laboratory Standards and Procedures Subcommittee. 9/22/2011. Members. SACHDNC Members Bruce Nedrow (Ned) Calonge R. Rodney Howell Fred Lowry Kellie B. Kelm Rebecca Buckley Dieter Matern. Organization Representatives American College of Medical Genetics Michael S. Watson

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Presentation Transcript
members
Members

SACHDNC Members

Bruce Nedrow (Ned) Calonge

R. Rodney Howell

Fred Lowry

Kellie B. Kelm

Rebecca Buckley

Dieter Matern

Organization Representatives

American College of Medical Genetics

Michael S. Watson

Association of Public Health Laboratories

Jane Getchell

Genetic Alliance

Sharon F. Terry

Additional Members

Carla Cuthbert

Amy Brower

Mei Baker

Harry Hannon

Clem McDonald

Brad Therrell

Rebecca Goodwin

HRSA Staff

Sara Copelland

subcommittee charge
Subcommittee Charge
  • Define and implement a mechanism for the periodic review and assessment of
    • the conditions included in the uniform panel
    • infrastructure services needed for effective and efficient screening of the conditions included in the uniform panel
    • laboratory procedures utilized for effective and efficient testing of the conditions included in the uniform panel.
acronyms
Acronyms

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accomplishments
Accomplishments
  • Second screen project (almost…)
  • Health Information Technology (HIT) Workgroup: Collaborative NLM IT initiative (LOINC)
  • Evaluation of novel molecular technologies
  • Monitorng of CDC QA/QC materials for LSD and SCID testing
  • Recommended direct comparison of alternative LSD testing technologies
committee changes
Committee Changes
  • A new chair: Fred Lowry
  • A new name: Laboratory and Information Technology Subcommittee
    • Evolution of scope of committee
    • Increasing role of information technology in NBS infrastructure
scope of work
Scope of Work
  • Newborn screening applications and technology are likely to be all consuming in the near future
  • There are other age windows for screening, but too much to deal with currently
wide ranging possibilities
Wide Ranging Possibilities
  • Reviewing new enabling/disruptive technologies
  • Provide guidance for states making decisions about implement new screening tests
    • Comparative performance metrics
    • Overview of technologies
  • Discussion of point of origin vs. traditional NBS screening labs
  • Etc...
subcomittee goals
Subcomittee Goals
  • Establish process for regular review and revision of the standard panel
    • Remove disorders
    • Alter status from secondary to primary target
  • Recommend specific changes to technology when indicated
    • Tyrosinemia 1
    • Succinylacetone
  • Continued activity of HIT workgroup
  • Monitoring new technologies