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Last updated:  October 19, 2010

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State Board of Health
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Olympia, WA 98504
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Newborn Screening Advisory Committee

The Newborn Screening Advisory Committee (NSAC) met twice (September 24, 2007 and December 10, 2007) and held one teleconference meeting on March 7, 2008.

The NSAC reviewed the conditions set forth in the American College of Medical Genetics report that were not included in Chapter 246-650 WAC against the Board's five criteria for evaluating new disorders. The NSAC was charged with producing recommendations on additional conditions that might be included in Chapter 246-650 WAC.

Meetings

 

Conditions Considered:
The advisory committee considered seventeen candidate conditions for adding to the mandated panel and making recommendations to the Washington State Board of Health. Sixteen of the candidate conditions are recommended in a report commissioned by the Federal Health Resources and Services Administration. An additional candidate condition was recommended by a sub-committee convened earlier by the Board and Department of Health to consider technical issues related to the availability of effective treatment and screening tests.

Conditions considered at December 10, 2007 meeting:

  • 3-hydroxy-3-methylglutaric aciduria (HMG)
  • 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
  • Beta-Ketothiolase deficiency (BKD)
  • Carnitine Palmitoyl Transferase 1 Deficiency (CPT-1)*
  • Carnitine uptake deficiency (CUD)
  • Holocarboxylase synthase deficiency (HCSD)/Multiple carboxylase deficiency MCD
  • Tyrosinemia type 1 (TYR-1)

Conditions considered at September 24, 2007 meeting:

  • Argininosuccinic Acidemia (ASA)
  • Citrullinemia Type 1 (CIT)
  • Glutaric acidemia type 1 (GA-1)
  • Isovaleric acidemia (IVA)
  • Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
  • Methylmalonic academia » Cbl A,B » vitamin B12 responsive (CblA,B)
  • Methylmalonic acidemia » mutase deficient » vitamin B12 non-responsive (MUT)
  • Propionic Acidemia (PROP)
  • Trifunctional protein deficiency (TFP deficiency)
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

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Condition Scores and Comments:
  • NSAC Recommendations -  September 24, 2007 and December 10, 2007 (pdf)
  • NSAC Comments - September 24, 2007 and December 10, 2007 (pdf)

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Fact Sheets:
  • Technical fact sheets: These sheets contain information we prepared for the technical sub-committee and a summation of the sub-committee» s findings. Note: the sub-committee categorized the conditions into three groups: Most, Intermediate, and Less Concordance with the testing and treatment effectiveness criteria.

  • Parent fact sheets: Texas newborn screening program created all but one of these sheets, designed to give parents information about these rare conditions. The other sheet is from Alaska.

You may note some inconsistencies between these resources regarding the "facts" about some conditions. In large part, this reflects the spectrum of current knowledge regarding the conditions, their manifestations, and the most effective approaches to treatment.

  • Fact sheets (pdf) for conditions considered at September 24 meeting.

  • Fact sheets (pdf) for conditions to be considered at December 10 meeting.

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Family Stories:
A representative sample of the types of experiences that families have with children that have these disorders compiled from an Internet search. These unedited stories are intended to convey the human, emotional perspectives that compel many of these families to advocate for screening.

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Reference Materials:

Articles from the journal Pediatrics that describe differing perspectives on the national recommendations for expanded screening.

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Contact Us:

If you have questions or need additional information, please contact:

For assistance with these materials contact: Tara Wolff at (360) 236-4101

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