December 10, 2007 Meeting

Meeting held at Public Health Laboratories, Washington State Department of Health

• Agenda (pdf)

• Newborn Screening Advisory Committee Meeting Summary (pdf)

March 7, 2008 Teleconference

• Summary: Cost Benefit Analysis of 16 Candidate Conditions (pdf)

• Cost Benefit Criteria Ballot (pdf)

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 meeting:

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

Conditions considered at September 24 meeting:

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

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Condition Scores and Comments:

• Newborn Screening Advisory Committee Recommendations -  September 24, 2007 and December 10, 2007 (pdf)
• Newborn Screening Advisory Committee 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.

• 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.

• Family Stories (pdf)

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Reference Materials:

• Chapter 246-650 WAC
• NBS: Toward a Uniform Screening Panel and System
• Five Criteria which are applied to candidate conditions
• Technical Experts as Advisors to Broader Newborn Screening Advisory Committee

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

• Newborn Screening Technology: Proceed with Caution (pdf)
  Jeffrey R. Botkin, Ellen Wright Clayton, Norman C. Fost, Wylie Burke, Thomas H. Murray, Mary Ann Baily, Benjamin Wilfond, Alfred Berg and Lainie Friedman Ross
  Pediatrics 2006;117;1793-1799
  DOI: 10.1542/peds.2005-2547

• We Need Expanded Newborn Screening (pdf)
  R. Rodney Howell
  Pediatrics 2006;117;1800-1805
  DOI: 10.1542/peds.2005-3196