From: Natasha Bonhomme [mailto:[log in to unmask]] Sent: Tuesday, February 05, 2013 11:05 PM Subject: Newborn Screening Quarterly Newsletter Issue #8 [http://www.geneticalliance.org/sites/default/files/ksc_assets/images/bft_logo.png]<https://urldefense.proofpoint.com/v1/url?u=http://listserv.galists.org/t/689555/228877/2034/0/&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=9a7c5fa5e5e901eef690e0bc0b14d0c262de69645d9d4b37ff17d14ade973739> Newborn Screening Quarterly Newsletter Brought to you by Genetic Alliance February 6, 2013 Issue #8 IN THIS ISSUE 2012 Consumer Task Force Challenge Award Program 2013 Consumer Task Force Severe Combined Immunodeficiency SACHDNC 29th Meeting NBS in the News Posters and Presentations Contact View web version<https://urldefense.proofpoint.com/v1/url?u=http://listserv.galists.org/t/689555/228877/2033/0/&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=3e64cb2fad0fdc7aa8d2b55b12f168bd373c50f19d1891df70e464180e81f6ce> 2012 Consumer Task Force In 2012, Baby’s First Test relaunched an innovative approach to the Consumer Task Force program that incorporated a training component with grass roots awareness building. Some examples from the meaningful and productive projects from 2012 Task Force Members include providing newborn screening information for the immigrant Chinese population in Boston, reaching out to teen mothers in rural West Virginia, and bringing information about newborn screening to NICU nurses in Tennessee. 2012 Consumer Task Force members also provided a public comment<https://urldefense.proofpoint.com/v1/url?u=http://www.babysfirsttest.org/newborn-screening/2012-consumer-task-force-members/public-comment&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=a086d2d6c87ac2a8cf5d6b0721766e54d277c637dba7ae0b93fd1a92b0a493df> to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children in May 2012. We are certain these Task Force members will continue their advocacy work in the name of giving all children a chance at a healthy start. Challenge Award Program After completing a terrific 2012 Challenge Award cycle, Baby’s First Test was excited to receive an even greater number of applications in 2013 requesting over $400,000 of funding. The selected projects are now getting underway and we look forward to officially announcing them shortly. Make sure to check out the wonderful work that emerged from the 2012 Challenge Award Projects<https://urldefense.proofpoint.com/v1/url?u=http://www.babysfirsttest.org/newborn-screening/challenge-awards/2012-projects&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=a8745ec3d66816fbf2f7accad153d4a5855b5cb572ce88216e8afcd30ece4e30>, including multi-media approaches to educating families and nurses about the heel prick, increasing awareness of newborn screening through targeted social networking, integrating newborn screening information into a prenatal web tool, and more. 2013 Consumer Task Force We are excited to announce the Baby’s First Test 2013 Consumer Task Force Members. The Task Force brings people of varied backgrounds into a dynamic experience in the newborn screening community. "Parents have always played an important advocacy role in promoting newborn screening. But the Consumer Task Force elevates this role to a new level of involvement, helping to assure that policy decisions and communications about newborn screening reflect the needs and hopes of America's families," remarked Don Bailey, Ph.D., Distinguished Fellow, RTI International. This remarkable group of individuals will participate in both a training program and implementing a newborn screening awareness program in their communities. To learn more about the newest Task Force members, visit the 2013 Consumer Task Force Member page<https://urldefense.proofpoint.com/v1/url?u=http://www.babysfirsttest.org/newborn-screening/2013-consumer-task-force-members&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=6946c325f6d4d768d798a6fb95479552949ceaec2eabca167b9e5df1aab0f443>. States Screening for Severe Combined Immunodeficiency Are on the Rise HHS Secretary Kathleen Sebelius added severe combined immunodeficiency<https://urldefense.proofpoint.com/v1/url?u=http://www.babysfirsttest.org/newborn-screening/conditions/severe-combined-immunodeficiency-scid&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=31a70d051836c2579d1d96459b0a742033128b431465fc15babac277dbdcb942> (SCID) to the Recommended Uniform Screening Panel (RUSP) of newborn screening disorders in May 2010. There are now 12 states with full statewide implementation: California, Colorado, Texas, Minnesota, Wisconsin, Michigan, Florida, Mississippi, New York, Massachusetts, Connecticut, and Delaware. Two states, New Mexico and Pennsylvania, are screening selected populations, and many others states plan to begin either statewide screening or large-scale pilot projects during 2013. Congratulations to all of the state laboratories who took on this challenging implementation project and are working tirelessly to keep babies healthy. SACHDNC 29th Meeting – January 31st- February 1st, 2013 On Thursday, January 31st and Friday, February 1st, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) held its 29th meeting virtually. Highlights of this meeting included approval of the new Condition Review Decision Matrix, an update on the Pompe condition nomination, updates on the implementation of SCID and CCHD screening at the state level, and Subcommittee report updates. To access the meeting minutes, agenda, and audio recordings, please visit the meeting event page.<https://urldefense.proofpoint.com/v1/url?u=http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/meetings/index.html&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=0bcc42cef39564f7527119db15ad63544e697849d9fcad6595134b8db7fe0c2a> Due to the expiration of the Newborn Screening Saves Lives Act, the next meeting of the Advisory Committee is not scheduled. Reauthorization efforts are currently underway and more information will be available as that process continues. NBS in the News Florida<https://urldefense.proofpoint.com/v1/url?u=http://idfscidnewbornscreening.org/2012/11/08/florida-newborn-screening-identifies-first-baby-born-with-scid/&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=b1a1e330cef792aee35fe0d1fb4ebd6a1327638abd1325a8142cb1a8a5cdb8fe>, Texas<https://urldefense.proofpoint.com/v1/url?u=http://www.dshs.state.tx.us/lab/newbornscreening.shtm&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=1155977f372639bb73d2e3c5ce3fbef004af322b419c1c8ef9e103bf663cf47b>, and Minnesota<https://urldefense.proofpoint.com/v1/url?u=http://www.health.state.mn.us/mls/LabAlerts/130110MLSSCIDUpdate.pdf&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=af00f4219ab44960fef216853fc06df5e39f7958e9d19b22ab4293fb796a8745> have started screening for SCID Guidance for the Retention and Research Use of Residual NBS Bloodspots<https://urldefense.proofpoint.com/v1/url?u=http://pediatrics.aappublications.org/content/early/2012/11/27/peds.2012-0852.abstract&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=b647521e6bdec01be7cd780eaa882271dbcee4348919d66ef83f282567ec2950> A study demonstrating the ability to detect Fragile X mutations on a large-scale was released<https://urldefense.proofpoint.com/v1/url?u=http://www.sciencecodex.com/newborn_baby_screening_for_fragile_x_syndrome-104325&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=43a9ec5e0919847d6466fa6378ec4f17be0396eeeee833014f663ff4d7608144> High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening<https://urldefense.proofpoint.com/v1/url?u=http://www.clinchem.org/content/early/2013/01/04/clinchem.2012.189936.abstract&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=96b93cfc924903fc7ca5c92f7bbd63639b84f6e88e4c3008a5a1b0218135fe67>. Visit Newborn Screening in the News<https://urldefense.proofpoint.com/v1/url?u=http://www.babysfirsttest.org/newborn-screening/newborn-screening-in-the-news&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=bb8e588d726454cb8c565d236e39a2d54ecf7f7394688c65219d47e4a56a9a16> on Baby’s first Test to keep up to date on the latest issues affecting newborn screening. Posters, Presentations and Exhibits of Baby’s First Test Recent Events: * Western States Regional Genetics Collaborative Meeting: October 2-4, 2012 * American Academy of Pediatrics Annual Meeting: October 20-23, 2012 * National Society of Genetic Counselors Annual Education Conference: October 24-27, 2012 * City MatCH (Urban Material and Child Health Conference): December 12-14, 2012 Upcoming Events: * Association of Maternal and Child Health Programs Annual Meeting: February 9-12, 2013 * American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting: March 19-23, 2013 * Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening: May 5-10, 2013 The Newborn Screening Newsletter provides updates on the advancement of Genetic Alliance newborn screening (NBS) initiatives, as well as new opportunities to engage in newborn screening dialogues on a community, state, and national level. If you have comments or suggestions for content you would like to see included in the newsletter, please email Natasha Bonhomme at [log in to unmask]<mailto:[log in to unmask]>. We welcome your comments and questions! Some of the Genetic Alliance staff members working on NBS projects include: Sharon Terry – Principal Investigator Natasha Bonhomme – Project Director, [log in to unmask]<mailto:[log in to unmask]> Elizabeth Stark – Project Manager, [log in to unmask]<mailto:[log in to unmask]> If you received this from a friend and would like to subscribe, click here<https://urldefense.proofpoint.com/v1/url?u=http://www.galists.org/read/all_forums/subscribe?name%3Dnbsnewsletter&k=7DHVT22D9IhC0F3WohFMBA%3D%3D%0A&r=QD0MALm7li4xmB3DnzvTKy2CVOWeUGJzsljAyiiNZhA%3D%0A&m=S%2FooQhZWLUutfTYgbo0Y1SgVxWmzM2xHzfIJY%2F4cEHw%3D%0A&s=f5d99a8cdde8bb9c3eca5f144894b627d4c34a18c07c09a6774ba7ed74927d84>. 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