Newborn Screening in the Era of Genomics - September 3, 2015

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Newborn Screening

Newborn Screening in the Era of Genomics - September 3, 2015

CDC Info

• Newborn screening is important for your baby
• Newborn screening resources at CDC
• CDC blog post:Newborn screening in the genomics era: are we ready for genome sequencing?
• CDC expert commentary:The critical importance of newborn screening and follow-up

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates
DL Bodian et al,Genetics in Medicine, September 3, 2015

Preliminary guidance related to informed consent for research on dried blood spots obtained through newborn screening, NIH, July 2015

Public perceptions of the benefits and risks of newborn screening.
Miller FA et al. Pediatrics 2015 Jul 13.

Should babies have their genomes sequenced? By Anna Nowogrodzki, MIT Technology Review, July 2

Framing optional genetic testing in the context of mandatory newborn screening tests.
Lillie SE et al. BMC Med Inform Decis Mak 2015 15(1) 50

Parental consent for the use of residual newborn screening bloodspots- respecting individual liberty vs ensuring public health
Bayefsky MJ et al. JAMA June 8, 2015

New consent requirements for newborn screening raise concerns.
Yan W et al. Nat. Med. 2015 Jun 4. 21(6) 542-3

SACHRP recommendations regarding research uses of newborn dried bloodspots and the Newborn Screening Saves Lives Reauthorization Act of 2014

Michigan BioTrust for Health (BioTrust) in health research
The BioTrust is a program to oversee Michigan's stored blood spots and their use

Attitudes of parents of children with serious health conditions regarding residual bloodspot use.
Nagaraj CB et al. Public Health Genomics 2014 (3) 141-8

Attitudes about the use of newborn dried blood spots for research: a survey of underrepresented parents.
Hendrix KS et al. Acad Pediatr 2013 Sep-Oct (5) 451-7

Residual newborn screening samples for research: parental information needs for decision-making.
Rothwell E et al. J Spec Pediatr Nurs 2013 Apr (2) 115-22

Retention and research use of residual newborn screening bloodspots.
Botkin JR et al. Pediatrics 2013 Jan (1) 120-7

Expanding Newborn Screening: Process and Priorities - April 22, 2015

Newborn screening: Evolving challenges in an era of rapid discovery
Donald BB Jr, et al. JAMA, April 21, 2015

Newborns in England are screened for four extra genetic conditions
BMJ 2015; 350 05 January 2015

Newborn babies screened for more rare conditions, Public Health England, Jan 5, 2015

Newborn babies to be tested for rare diseases, BBC News (2014)

Expanding newborn screening: Process, policy, and priorities, U.S. Preventive Services Task Force, Feb 2014

US Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, Meeting, February 12-13, 2015 

Newborn screening: Toward a uniform screening panel and system in the United States,  [PDF 11.58 MB] Health Services and Resources Administration

The National Newborn Screening and Global Resource Center (NNSGRC) serves as an independent U.S. national resource center for newborn screening and provides newborn screening information globally.

Newborn Screening: Integrating Genome Sequencing? - April 9, 2015

A Newborn Challenge- Genomic sequencing at birth raises scientific, social, and ethical questions, by Turna Ray, Genome Magazine, Spring 2015

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.
Heidi Carmen Howard et al. European Journal of Human Genetics, January 28, 2015

New CDC blog post: Newborn screening in the genomics era: are we ready for genome sequencing?

Considering whole genome sequencing for newborns, by Nora Dunne, Bioscience Technology, Dec 18

Parents are interested in newborn genomic testing during the early postpartum period
Waisbren SE, et al. Genet Med 2014 Dec

Ethical issues in DNA sequencing in the neonate.
Dimmock DP, Bick DP. Clin Perinatol. 2014 Dec;41(4):993-1000

Genetics professionals' opinions of whole-genome sequencing in the newborn period.
Ulm E, Feero WG, Dineen R, Charrow J, Wicklund C. J Genet Couns. 2014 Oct 28

Newborn screening by whole-genome sequencing: ready for prime time?
Fleischer JA, Lockwood CM. Clin Chem. 2014 Sep;60(9):1243-4.

Can we afford to sequence every newborn baby's genome?
Beckmann JS. Hum Mutat. 2014 Dec 25.

Would I have the genome of my baby sequenced? New Scientist, Apr 9

Newborn Screening: Genetics and Health Disparities - November 26, 2014

CDC paper: Universal state newborn screening programs can reduce health disparities. 
Brosco JP, Grosse SD, Ross LF. JAMA Pediatr. 2014 Nov 17.

Disparities in current and future childhood and newborn carrier identification.
Noke M, et al. J Genet Couns. 2014 Oct;23(5):701-7.

Delays in diagnosis of congenital hearing loss in rural children.
Bush ML, et al.  Pediatr. 2014 Feb;164(2):393-7.

Newborn Screening Saves Lives - September 25, 2014

CDC feature: Newborn screening is important for your baby - Soon after birth, babies born in the United States are checked for certain medical conditions. Learn why this newborn screening is important for your baby and why you should ask for the screening results.

CDC information: Newborn screening resources at CDC

CDC paper: Early hearing detection and intervention among infants — Hearing screening and follow-up survey, United States, 2005–2006 and 2009–2010.
Gaffney M, Eichwald J, Gaffney C, Alam S. MMWR 2014;63(Suppl 2).

CDC paper: Late detection of critical congenital heart disease among US infants: estimation of the potential impact of proposed universal screening.
Peterson C and Ailes E, et al. JAMA Pediatrics. 2014;168(4):361-370.

CDC paper: Cost-effectiveness of routine screening for critical congenital heart disease in US newborns.
Peterson C, Grosse SD, Oster ME, Olney RS, Cassell CH. Pediatrics. August 5, 2013.

CDC expert commentary: The critical importance of newborn screening and follow-up

Genetic Alliance: Baby's First Test

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan et al., JAMA. 2014 20;312(7):729-38.

'It was either this or he doesn't live': Transplant saves first 'bubble boy' in Wash. state detected with newborn screening, Fred Hutch News Service, August 4, 2014

New test can identify sickle cell disease in minutes, has potential to save many young lives in the developing world , Medical News Today, September 3, 2014

Density-based separation in multiphase systems provides a simple method to identify sickle cell disease.
Kumar et al. PNAS. August 1, 2014

Newborn screening program saves lives, by Dr. Michael Caldwell, Poughkeepsie Journal, September 14, 2014