Newborn screening expansion: Massachusetts research models encompass public health service responsibility

Genomics and public health: Legal and socio-ethical perspectives

Volumn , Issue , 2006, Pages 45-54

  Comeau, Anne ^a  

^a New England Newborn Screening Program   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882327885     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1163/ej.9789004155596.i-329     Document Type: Chapter

References (19)

1. 105 MASS. CODE REGS. 270.000.
2. American College of Medical Genetics, Newborn Screening: Toward a Uniform Screening Panel and System. Report for Public Comment (2005), http://www.mchb.hrsa.gov/screening/.
3. K. Atkinson et al., A Public Health Response to Emerging Technology: Expansion of the Massachusetts Newborn Screening Program, 116 PUBLIC HEALTH REP. 122 (2001).
4. A. M. Comeau & D. E. Levin, Population-Based re Population-Based Research within a Public Health Service: Two Models for Common Rule Compliance in the Massachusetts Newborn Screening Program (forthcoming 2006).
5. PKU, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital toxoplasmosis, congenital adrenal hyperplasia, sickle cell disease, biotinidase deficiency, and medium-chain acyl-Co-A dehydrogenase (MCAD) deficiency.
6. Cystic fibrosis (CF), Tyr I (Tyrosinemia I), Tyr II (Tyrosinemia II), ß-MC (ß- Methyl Crotonyl Carboxylase), HMG (HMG Lyase Deficiency), ASL (Argininosuccinic Aciduria), IVA (Isovaleric Acidemia), HHH (HHH Syndrome), GA I (Glutaric Acidemia I), GA II (Glutaric Acidemia II), ASS (Citrullinemia), MMA (Methylmalonic Aciduria), PPA (Propionic Acidemia), CPT II (CPT Deficiency), LCHAD (long-chain hydroxy-CoA dehydrogenase deficiency), VLCAD (very-long-chain acyl-CoA dehydrogenase deficiency), SCAD (short-chain acyl-CoA dehydrogenase deficiency), LCAD (long-chainacyl-CoA dehydrogenase deficiency), ß-KT (ß-Ketothiolase Deficiency), Argininemia. Note that the list approved by metabolic specialists includes LCAD and that recent deliberations have indicated these cases to be VLCAD. Note that the list of conditions does not include those conditions detected as a result of screening for the MADPH panel.
7. J. R. Botkin et al., Newborn Screening Technology: Proceed with Caution, 117 PEDIATRICS 1793 (2006).
8. A. M. Comeau et al., Integration of New Genetic Diseases into Statewide Newborn Screening: New England Experience, 125C AM. J. MED. GENET. 35 (2004).
9. R. B. Parad & A. M. Comeau, Diagnostic Dilemmas Resulting from the Immunoreactive Trypsinogen/DNA Cystic Fibrosis Newborn Screening Algorithm, 147 J. PEDIATRICS S78 (2005).
10. B. P. O'Sullivan et al., Early Pulmonary Manifestation of Cystic Fibrosis in Children with the △F508/R117H-7T Genotype, PEDIATRICS (forthcoming 2006).
11. National Newborn Screening and Genetics Resource Center (NNSGRC), http://genes-r-us.uthscsS78a.edu/; March of Dimes, http://www.marchofdimes.com/peristats/pdfdocs/nbs2006.pdf.
12. Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, Summary of Seventh Meeting, Feb. 13-14, 2006, http://mchb.hrsa.gov/programs/genetics/committee/7thminutes.htm#6.
13. J. R. Botkin, Research for Newborn Screening: Developing a National Framework, 116 PEDIATRICS 862 (2005).
14. Clinical and Laboratory Standards Institute, Newborn Screening Follow Up: Approved Guideline, CLSI document I/LA27-A (2006).
15. P. J. Lee et al., Maternal Phenylketonuria: Report from the United Kingdom Registry 1978-1997, 90 ARCH. DIS. CHILD. 114 (2005); J. E. Haddow et al., Maternal Thyroid Deficiency During Pregnancy and Subsequent Psychological Development in the Child, 341 N. ENGL. J. MED. 549 (1999).
16. J. M. G. Wilson & G. Jungner, Principles and Practice of Screening for Diseases (1968).
17. 45 C.F.R. 46.
18. R. Hoff et al., Seroprevalence of Human Immunodeficiency Virus among Childbearing Women. Estimation by Testing Samples of Blood from Newborns, 318 N. ENGL. J. MED. 525 (1988).
19. Genetic Association Information Network (GAIN), http://www.fnih.org/GAIN/policies.shtml.