Recommendations to HHS Secretary with Responses

Infantile Krabbe Disease

• Enclosure: Evidence-Based Review of Newborn Screening for Krabbe Disease – January 28, 2023 (PDF - 1 MB)
• Enclosure: Expedited Evidence-Based Review of Newborn Screening for Infantile Krabbe Disease Final Report – February 1, 2024 (PDF - 701 KB)
• Chair Letter to Secretary – March 1, 2024 (PDF - 182 KB)
• Secretary’s Interim Response – May 9, 2024 (PDF - 16 KB)
• Secretary’s Final Response regarding Committee’s Recommendation to add Infantile Krabbe Disease – July 1, 2024 (PDF - 58 KB)

Guanidinoacetate Methyltransferase (GAMT) Deficiency

• Chair Letter to Secretary - June 7, 2022 (PDF - 25 KB)
• Enclosure: External Evidence Review Report - June 2, 2022 (PDF - 931 KB)
• Secretary's Interim Response - November 9, 2022 (PDF - 46 KB)
• Secretary's Final Response regarding Committee's Recommendation to add GAMT - January 4, 2023 (PDF - 19 KB)

Mucopolysaccharidosis Type II (MPS II)

• Chair Letter to Secretary - March 15, 2022 (PDF - 29 KB)
• Enclosure: External Evidence Review Report - February 20, 2022 (PDF - 914 KB)
• Secretary's Interim Response - June 13, 2022 (PDF - 60 KB)
• Secretary's Final Response regarding Committee's Recommendation to add MPS II - August 2, 2022 (PDF - 73 KB)

Review of Newborn Screening Implementation for Spinal Muscular Atrophy

• Chair Letter to Secretary - December 7, 2020 (PDF - 21 KB)
• Enclosure: Report - Review of Newborn Screening Implementation for Spinal Muscular Atrophy (PDF - 1 MB)

Medical Foods for Inborn Errors of Metabolism: The Critical Need to Improve Patient Access

• Chair Letter to Secretary - July 25, 2019 (PDF - 151 KB)
  • Enclosure: Report – Medical Foods for Inborn Errors of Metabolism: The Critical Need to Improve Patient Access (PDF - 333 KB)
  • Report summarized in peer reviewed journal “Pediatrics”:  Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need
• Acting Administrator Response - September 9, 2019 (PDF - 131 KB)

Spinal Muscular Atrophy (SMA)

• Chair Letter to Secretary - March 8, 2018 (PDF - 127 KB)
• External Evidence Review Report (PDF - 1 MB) (March 13, 2018)
• Deputy Secretary's Interim Response - April 13, 2018 (PDF - 142 KB)
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• Secretary’s Final Response regarding the Committee’s recommendation to add SMA - July 2, 2018 (PDF - 87 KB)

Adrenoleukodystrophy (X-ALD)

• Chair Letter to Secretary - September 25, 2015 (PDF - 69 KB)
• Acting Deputy Secretary's Interim Response - November 12, 2015 (PDF - 43 KB)
• Secretary's Final Response regarding Committee's Recommendation to add X-ALD to the RUSP - February 16, 2016 (PDF - 136 KB)
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Informed Consent for Newborn Screening Research

• Chair Letter to Secretary - June 23, 2015 (PDF - 127 KB)
• Secretary's Response - October 30, 2015 (PDF - 110 KB)

Timely Newborn Screening Goals

• Chair Letter to Secretary - April 16, 2015 (PDF - 206 KB)
• Acting Deputy Secretary's Response - June 3, 2015 (PDF - 70 KB)

Mucopolysaccharidosis Type I (MPS I)

• Chair Letter to Secretary - April 13, 2015 (PDF - 3 MB)
• Acting Deputy Secretary's Interim Response - June 3, 2015 (PDF - 70 KB)
• Secretary's Final Response regarding Committee's Recommendation to add MPS I to the RUSP - February 16, 2016 (PDF - 158 KB)

Succinylacetone as Primary Marker to Detect Tyrosinemia Type I

Succinylacetone as Primary Marker to Detect Tyrosinemia Type I (PDF - 896 KB)

• Chair Letter to Secretary - December 16, 2014 (PDF - 35 KB)
• Secretary's Response - March 16, 2015 (PDF - 59 KB)

Pompe Disease

The Addition of Pompe Disease to the Recommended Uniform Screening Panel (PDF - 138 KB) June 3, 2013

• Secretary's Interim Response RE Committee's Recommendation to add Pompe Disease to the RUSP - January 27, 2014 (PDF - 57 KB)
• Secretary's Final Response RE Committee's Recommendation to add Pompe Disease to the RUSP - March 02, 2015 (PDF - 99 KB)

Point-of-Care Screening

Implementing Point-of-Care Newborn Screening (PDF - 112 KB) March 9, 2012

• Enclosure: Report - Implementing Point-of-Care Newborn Screening (PDF - 382 KB)
• Response to March 9, 2012 letter RE Implementing Point-of-Care Newborn Screening (PDF - 16 KB) April 3, 2012

Improving Data Quality by Linking Newborn Screening to Birth Certificates

Improving Data Quality and Quality Assurance in Newborn Screening by Including the Bloodspot Screening Collection Device Serial Number on Birth Certificates (PDF - 116 KB) March 9, 2012

• Response to March 9, 2012  Letter RE Improving Data Quality in Newborn Screening by linking Newborn Screening to Birth Certificates (PDF - 49 KB) September 7, 2012
• Secretary's Response post ICC Report RE Improving Data Quality in Newborn Screening by linking Newborn Screening to Birth Certificates (PDF - 69 KB) August 21, 2013

Critical Congenital Cyanotic Heart Disease

The Addition of Critical Congenital Cyanotic Heart Disease to the Recommended Uniform Screening Panel (PDF - 81 KB) October 15, 2010

• Response adopting recommendation to add Critical Congenital Heart Disease to the Recommended Uniform Screening Panel (PDF - 211 KB) September 21, 2011
• Response to October 15, 2010 Letter RE Critical Congenital Cyanotic Heart Disease (PDF - 33 KB) April 20, 2011

CLIAC Recommendations

Input from the SACHDNC to the CDC for the purpose of developing a MMWR guideline on the CLIAC recommendations (PDF - 99 KB) October 13, 2010

• Letter from Acting Director, Center for Disease Control and Prevention’s (CDC) Division of Laboratory Science and Standards - August 25, 2010 (PDF - 333 KB)

Residual Dried Blood Spot Specimens

The retention and use of residual dried blood spot specimens (PDF - 121 KB) October 13, 2010

• Response to October 13, 2010 Letter RE residual dried blood spot specimens (PDF - 50 KB) April 13, 2011
• Secretary's Response to Committee recommendations RE retention and use of residual dried blood spot specimens (PDF - 116 KB) December 16, 2013

Sickle Cell Trait

Sickle Cell Trait and Disease Screening of NCAA Athletes (PDF - 60 KB) June 14, 2010

• Sickle Cell Trait & Disease screening of NCAA athletes -revisions to June 14, 2010 recommendations (PDF - 365 KB) October 11, 2010
• Response to June 14 and October 11, 2010 Letters Regarding Recommendations on Screening for Sickle Cell Disease Carriers (PDF - 36 KB) June 27, 2011

National Contingency Plan

National Contingency Plan for Newborn Screening (PDF - 29 KB) August 6, 2010

• Tab A - NBS CONPLAN Final Signed (PDF - 738 KB) July 2010
• Interim Response to August 6, 2010 RE: National Contingency Plan for Newborn Screening letter (PDF - 159 KB) September 17, 2010
• Final Response to August 6, 2010 Letter RE: National Contingency Plan for Newborn Screening letter (PDF - 36 KB) September 2, 2011

Medical Foods

Insurance Coverage of Medical Foods, Foods Modified to be Low in Protein, and Pharmacological Doses of Vitamins and Amino Acids (PDF - 25 KB) June 14, 2010

• Response to June 14, 2010 Letter RE: Insurance coverage of medical foods, foods modified to be low in protein, and pharmacological doses of vitamins and amino acids (PDF - 278 KB) December 14, 2010
• Interim Response from the Secretary to the June 14, 2010 Letter (PDF - 97 KB) July 29, 2010

Gaps in Coverage and Lack of Uniformity in Reimbursement of Medical Foods and foods that are Critical Treatments for Children and Adults Identified with Inborn Errors of Metabolism through Newborn Screening (PDF - 75 KB) May 19, 2009

Gaps in Coverage and Lack of Uniformity in Reimbursement of Medical Foods and foods that are Critical Treatments for Children and Adults Identified with Inborn Errors of Metabolism through Newborn Screening (PDF - 99 KB) April 7, 2009

• Tab A: List of State Laws (PDF - 229 KB)
• Tab B: Table of Conditions and Medical Foods (PDF - 88 KB)
• Tab C: Review of Treatment in PKU
• Response by the HHS Secretary to the April 7, 2009 Letter (PDF - 28 KB) October 2, 2009

Health Care Reform

White Paper on Health Care Reform and Public Health Newborn Screening Programs (PDF - 140 KB) March 23, 2010

• NBS and Health Care Reform White Paper (PDF - 105 KB) March 23, 2010
• Response to March 23, 2010 Letter (PDF - 493 KB) September 23, 2010
• Interim Response from the Secretary to the March 23, 2010 Letter (PDF - 124 KB) April 20, 2010

Severe Combined Immune Deficiency

The Addition of SCID to the Uniform Panel and related T-coll Lymphocyte Deficiencies to the List of Secondary Targets as a Comprehensive Entity (PDF - 53 KB)

February 25, 2010

• Report on Newborn Screening for Severe Combined Immunodeficiency (PDF - 43 KB) May 19, 2011
• Response by the HHS Secretary to the May 19, 2011 Letter (PDF - 50 KB) July 27, 2011

Recommended Uniform Screening Panel

Adoption by All State Newborn Screening Programs of the Recommended Uniform Screening Panel (PDF - 75 KB) November 22, 2009

• Letter from the Secretary (PDF - 100 KB) January 4, 2010
• Response by the HHS Secretary to the February 25, 2010 and November 22, 2009 Letters (PDF - 44 KB) May 21, 2010

Adoption of the ACMG-Recommended Screening Panel (PDF - 443 KB) September 9, 2005

• American College of Medical Genetics (ACMG) Report on Newborn Screening (PDF - 304 KB) April 20, 2005
• Response by the HHS Secretary to the April 21, 2005, September 9, 2005 and April 4, 2007 Letters (PDF - 111 KB) October 21, 2008

Committee Progress

The Committee's Progress to Date in their Evidence Review Deliberations and in Other Committee Actions (PDF - 36 KB) September 1, 2009

• Response by the HHS Secretary to the September 1, 2009 Letter (PDF - 334 KB) March 1, 2010
  • Tab A: Committee’s Evidence Review Process (PDF - 597 KB)
  • Tab B: Committee’s Education and Training Subcommittee Report (PDF - 574 KB)

The Committee's Progress to Date in Their Evidence Review Deliberations (PDF - 87 KB) March 30, 2009

• Response by the HHS Secretary to the March 30, 2009 Letter (PDF - 110 KB) July 31, 2009

The Committee's Activities to Date (PDF - 17 KB) October 2008

Prenatal Parental Education (PDF - 106 KB) April 4, 2007

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