RARE Webinar Series

Newborn Screening

January 24, 2013

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Today’s Panelists

Panelists: • Bill Morris, Grey’s Gift & Texas NBS Advisory

Panel Member • Jim Bialick, NBS Policy Expert and co-founder of

Newborn Coalition, Washington DC • Dr. Fred Lowry, Acting Director Genetic

Disease Screening (California Dept. of Public Health) & SACHDNC committee member

Moderator: • Dean Suhr, Co-founder & President of

MLD Foundation

Thanks to … • Global Genes – for hosting • Shire for support of this webinar • Bayer RARE Webinar Series underwriting

NBS is not just relevant in the newborn period

History

• Dr. Robert Guthrie – Developed a test for PKU and a special filter paper

for collecting whole blood specimens from newborns

– Piloted the “Guthrie test” at a hospital in New York

– Guthrie lab started screening for PKU in 1961

• 1963 – State of Massachusetts passed a law mandating that all newborns be screened for PKU – Celebrating 50 years of newborn screening!

• 1975 – Forty-three states had laws for PKU screening that covered more than 90% of infants born in the U.S.

Newborn Screening

Uniform Recommended Panel

• 1999 –American Academy of Pediatrics recommended we develop national standards for NBS

• HRSA worked with the American College of Medical Genetics

• 2006 – HRSA/ACMG report “Newborn Screening: Toward a Uniform Screening Panel and System”

• SACHDNC – Secretary’s Advisory Committee on Heritable Disorders in Newborns & Children

Newborn Screening

Toward a Uniform Screening Panel and System

• Initial Uniform Panel – 29 primary and 25 secondary conditions

• Conditions selected based on standardized criteria, weighting methodology, and independent review

• Criteria Includes – Availability, cost, efficacy of therapy

– Efficient accurate diagnostic test

– Benefits of early detection and therapy

– Burden of disease

– etc.

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2011 NBS by State

15 – 50+ 19 – 40-49 16 < 39

SCID – Current Implementation Status

Number of States

Shading Status

10 Statewide and

Fully Implemented

2 Selected Populations

8 Pilots and/or

Screening Planned for

2012

27 Not Implemented

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Pilots and/or Screening

Planned for 2013

Courtesy of:

SCID is one of the first two disorders

added to the “Core 29”

2010 Newborn Screening

What is tested in my state?

Stakeholders

Newborn Screening Webinar

Discussion …

Please enter your questions in the Q&A WebEx panel

Newborn Screening Saves Lives Act

• Originally passed in 2007, up for re-authorization in 2013

• Establishes grant programs for education and to coordinate follow-up Laboratory quality standards

• Establishes a central online clearinghouse for NBS information: http://BabysFirstTest.org

• Renews SACHDNC (Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children), and expands and coordinates research, particularly on conditions that could be added to the panel in the future.

• 2013 legislation is expected to be introduced this spring

Resources

• Panelists:

– Jim Bialick, Newborn Coalition http://newborncoalition.com

– Dr. Fred Lorey, Calif. State Genetic Disease Screening Programhttp://www.cdph.ca.gov/programs/gdsp/pages/default.aspx

– Bill Morris, Grey’s Gift http://GreysGift.org

• Baby’s First Test – Baby's First Test is the nation's education center on newborn screening for parents and providers http://BabysFirstTest.org

• National Newborn Screening and Global Resource Center (NNSGRC) http://genes-r-us.uthscsa.edu

• Save Babies Through Screening Foundation http://www.savebabies.org

• March of Dimes http://bit.ly/modNBS

• Newborn Screening Saves Lives Act http://bit.ly/NBSsavesLives2007 http://geneticalliance.org/issues.nbs.act

• National Library of Medicine NBS Information http://ghr.nlm.nih.gov/nbs

• HRSA/ACMG report “Newborn Screening: Toward a Uniform Screening Panel and System” http://bit.ly/NBSuniformPanel

What’s Next?

• World RARE Disease Day – Feb 28th – get involved at http://globalgenes.org/world-rare-disease-day/

• Newborn Screening Saves Lives Act reauthorization

• Next Webinar – RARE Drug Development March 20th, 2013 at 2pm EDT