Newborn Screening: From Guthrie to Whole Genome Sequencing

Ten great public health achievements—United States, 2001–2010. MMWR Morb Mortal Wkly Rep 2011; 60(19):619–23.

American College of Medical Genetics and Genomics. September is National Newborn Screening Awareness Month. American College of Medical Genetics and Genomics strongly recommends new uniform panel of screening tests for all newborns in America [cited 2013 Feb 22]. Available from: URL: http://www.acmg.net/AM/TextTemplate.cfm?Section=Search2&template=/CM/HTMLDisplay.cfm&ContentID=1637

Lloyd-Puryear MA Tonniges T Van Dyck PC Mann MY Brin A Johnson K American Academy of Pediatrics Newborn Screening Task Force recommendations: how far have we come? Pediatrics 2006; 117(5 Pt 2):S194–211.

Therrell BL Adams J . Newborn screening in North America. J Inherit Metab Dis 2007; 30:447–65.

MacCready RA Hussey MG . Newborn phenylketonuria detection in Massachusetts. Am J Public Health Nations Health 1964; 54:2075–81.

Guthrie R Susi A . A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963; 32:338–43.

Van Dyck PC, Edwards ES. A look at newborn screening: today and tomorrow. Pediatrics 2006; 117(5 Pt 2):S193.

National Research Council. Genetic screening: programs, principles, and research. Washington: National Academy of Sciences; 1975.

Serving the family from birth to the medical home. Newborn screening: a blueprint for the future—a call for a national agenda on state newborn screening programs. Pediatrics 2000; 106(2 Pt 2):389–422.

Newborn screening: toward a uniform panel and system. Genet Med 2006; 8 Suppl 1:1S–252S.

Therrell BL Hannon WH . National evaluation of US newborn screening system components. Ment Retard Dev Disabil Res Rev 2006; 12:236–45.

Department of Health and Human Services (US). Secretary's Advisory Committee on Heritable Disorders in Newborns and Children [cited 2013 Feb 22]. Available from: URL: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders

Perrin JM Knapp AA Browning MF Comeau AM Green NS Lipstein EA An evidence development process for newborn screening. Genet Med 2010; 12:131–4.

Chace DH Kalas TA Naylor EW . Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003; 49:1797–817.

Millington DS Kodo N Norwood DL Roe CR . Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990; 13:321–4.

Centers for Disease Control and Prevention (US). Newborn Screening Quality Assurance Program [cited 2013 Feb 22]. Available from: URL: http://www.cdc.gov/labstandards/nsqap.html

McCabe ER Huang SZ Seltzer WK Law ML . DNA microextraction from dried blood spots on filter paper blotters: potential application for newborn screening. Hum Genet 1987; 75:213–6.

Zhang YH McCabe LL Wilborn M Therrell BL Jr McCabe ER . Application of molecular genetics in public health: improved follow-up in a neonatal hemoglobinopathy screening program. Biochem Med Metab Biol 1994; 52:27–35.

Clarke GM Higgins TN . Laboratory investigation of hemoglobinopathies and thalassemias: review and update. Clin Chem 2000; 46(8 Pt 2):1284–90.

Baker MW Grossman WJ Laessig RH Hoffman JL Brokopp CD Kurtycz DF Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 2009; 124:522–7.

Baker MW Laessig RH Katcher ML Routes JM Grossman WJ Verbsky J Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program. Public Health Rep 2010; 125(Suppl 2):88–95.

Association of Public Health Laboratories. Newborn screening molecular resources [cited 2013 Feb 22]. Available from: URL: http://www.aphl.org/aphlprograms/newborn-screening-and-genetics/molecular/pages/default.aspx

Millington DS Sista R Eckhardt A Rouse J Bali D Goldberg R Digital microfluidics: a future technology in the newborn screening laboratory? Semin Perinatol 2010; 34:163–9.

Eunice Kennedy Shriver National Institute of Child Health and Human Development National Human Genome Research Institute. Genomic sequencing and newborn screening disorders (U19) [cited 2013 Feb 22]. Available from: URL: http://grants.nih.gov/grants/guide/rfa-files/RFA-HD-13-010.html

New York State Department of Health. Genetic testing and screening in the age of genomic medicine: executive summary. 2000 [cited 2013 Feb 22]. Available from: URL: http://www.health.ny.gov/regulations/task_force/reports_publications/screening.htm

Therrell BL Jr. Ethical, legal, and social issues in newborn screening in the United States. Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:52–8.

Lewis MH Goldenberg A Anderson R Rothwell E Botkin J . State laws regarding the retention and use of residual newborn screening blood specimens. Pediatrics 2011; 127:703–12.

Health Resources and Services Administration (US). Baby's first test: how screening works [cited 2013 Feb 22]. Available from: URL: http://www.babysfirsttest.org

Association of Public Health Laboratories. 50 years of saving babies' lives [cited 2013 Feb 22]. Available from: URL: http://www.aphl.org/aphlprograms/newborn-screening-and-genetics/50th-anniversary-of-newborn-screening/pages/default.aspx

Therrell BL Hannon WH Bailey DB Jr Goldman EB Monaco J Norgaard-Pedersen B Committee report: considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening. Genet Med 2011; 13:621–4.

Therrell BL Jr, Hannon WH. Newborn dried blood spot screening: residual specimen storage issues. Pediatrics 2012; 129:365–6.

Therrell BL Johnson A Williams D . Status of newborn screening programs in the United States. Pediatrics 2006; 117(5 Pt 2):S212–52.

Michigan Department of Community Health. Michigan BioTrust for Health [cited 2013 Feb 22]. Available from: URL: http://www.michigan.gov/mdch/0,1607,7-132-2942_4911_4916-209738-,00.html

Newborn Screening Translational Research Network. Virtual repository of dried blood spots [cited 2013 Feb 22]. Available from: URL: https://www.nbstrn.org/research-tools/virtual-repository-of-dried-blood-spots

Beleno et al. v. Texas Department of State Health Services et al. (2009).

Higgins v. Texas Department of State Health Services et al. (2012).

Bearder et al. v. State of Minnesota (2011).

Office of the Revisor of Statutes, State of Minnesota, Stat. 144. 125.

Botkin JR Clayton EW Fost NC Burke W Murray TH Baily MA Newborn screening technology: proceed with caution. Pediatrics 2006; 117:1793–9.

Routes JM Grossman WJ Verbsky J Laessig RH Hoffman GL Brokopp CD Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009; 302:2465–70.