Newborn Screening: Tennessee Experience. Webinar
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1 Newborn Screening: Tennessee Experience Webinar
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3 50 Years of NBS European effort Method to detect PKU (1934, Folling) Diet to treat PKU(1953, Bickle) Simple, inexpensive NBS for PKU, Dr. Robert Guthrie (Buffalo) Mass screening methods for NBS, Dr. Mary Efron (MassachuseVs General) Screening method for congenital hypothyroidism, Dr. Jean Dussault (Canada) Developed screening for sickle cell/hemoglobin disorders, Dr Michael Garrick (Buffalo) Developed screening for CAH, Drs. Songya Pang and Maria New 1982 Colorado, first state to screen for cysac fibrosis Developed screening for bioanidase deficiency Dr. Barry Wolf (Richmond) Tandem mass spectrometry methods for NBS, Drs. Donald Chace, David Millington, and Ed Naylor 1990 Hawaii first state to enact uniform newborn hearing screening 2005 SACHDNC endorses uniform screening panel (29 condiaons) 2010 SACHDNC endorses addiaon of SCID to universal newborn screening panel 2012 Criacal congenital heart disease - addiaon to uniform screening panel Source: The Newborn Screening Story: How one simple test changed lives, science and health in America, APHL, 2013
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5 NEWBORN SCREENING!
6 Tennessee NBS PKU Hypothyroidism Hemoglobinopathies 1992 Galactosemia Hearing (voluntary, 2008 universal) Bioanidase deficiency TMS based disorders (amino acids, organic acids, favy acid oxidaaon (all primary targets, >95% secondary targets) Cysac fibrosis( IRT) CCHD; (SCID pending)
7 Tennessee NBS Demographic informaaon Populaaon 6,346,000 Long state bordered by 8 other states 8 Metro areas (pop. >100K) have ~80% pop 95 counaes ~85,000 birth rate Racial/ethnic component Caucasians - ~76% African- Americans - ~21% Oriental, Pacific- Islanders - ~3% (Hispanic - ~9%)
8 Referral Pattern for Birth Population Lake Obion Henry Weakley Houston Dyer Gibson Carroll Crockett Henderson Haywood Madison Tipton Humphreys Hickman Perry Lewis Chester Shelby Fayette Lawrence Hardeman Hardin Wayne McNairy Benton Decatur Stewart Montgomery Robertson Clay Pickett Sumner Macon Dickson Cheatham Dekalb White Williamson Rutherford Maury Giles Smith Davidson Wilson Putnam Marshall Warren Bedford Coffee Grundy Moore Trousdale Sequatchie Lincoln Franklin Marion Jackson Overton Fentress Bradley Hancock Scott Claiborne Campbell Union Hawkins Greene Morgan Anderson Jefferson Knox Cocke Roane Sevier Blount McMinn Monroe Polk Sullivan Carter U T Memphis Vanderbilt U T Knoxville
9 Tennessee NBS Department of Health Laboratory Services Newborn Screening Others (Microbiology, Serology/Viral, Environmental, etc) Maternal and Child Health Programs Programs for Infants Children and Adolescents» Newborn Screening Follow- up Program Geneacs Advisory CommiVee» Newborn Hearing Screening» Children s Special Services» Others Women s Health Improving Services to Women and Children
10 Oversight Geneacs Advisory CommiVee (GAC) Advisory to Geneacs and NBS secaon of TN Maternal and Child Health, and State Newborn Screening Lab (2 sessions/year) Established in 1970 s Representaaon from Comprehensive Geneac Centers/Satellite Geneac Centers Hematology/Endocrine/Pulmonary/Pediatric Cardiology Centers Consumers
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12 GAC Funcaon Advise on policies concerning Delivery of geneac services statewide Educaaon about geneac disorders/nbs Health Care Providers Consumers Outreach to communiaes Maintaining data on geneac disorders, and NBS panel components
13 Tennessee NBS TN NBS web site hvp://health.state.tn.us/mch/nbs.shtml#1 Site has: Parent informaaon (pamphlet link) Provider informaaon (pamphlet link) Disorder informaaon (separate for parents/providers) Informaaon for hospitals/providers Blood collecaon Hearing screening CCHD screening Unsaasfactory rate of specimens received/hospital Secure Remote Viewer for providers (on- line) Quarterly newslever Resource links (e.g. Naaonal Newborn Screening and Genacs Resource Center, MOD, ACMG ACT Sheets, AAP, etc)
14 TN NBS Unsaasfactory Specimens Unsaasfactory rate issues Adopted goal of < or = 2% of submived specimens Source of: Possible missed diagnoses Delay in diagnosis Addiaonal expense Unsaasfactory definiaon Currently 20 reasons for rejecaon/non- reporang of specimens All specimens are run if possible Report may only say Unsaasfactory specimen and reason, but no official report Recommendaaon is to Repeat Sources of unsaasfactory specimens Hospitals Health Departments Primary Providers
15 Tennessee NBS Unsaasfactory Specimens State avempts to remedy by: Provide educaaonal opportuniaes Working on hospitals with largest # unsats/and/or largest % Posiave reinforcement to hospitals/insatuaons meeang goal Instrucaonal DVD Inform hospital of unsat rates and how compares to others On- site educaaon Shrinking funds to provide on- site educaaon County Health Departments/providers offices challenged by lower numbers Geneac/specialty centers encouraged to provide addiaonal experase/educaaon to Hospitals Health departments Providers
16 Tennessee NBS Unsaasfactory Specimens Therefore Need for further educaaonal efforts Nurses primary paaent caretaker in hospitals public health departments, and provider sites Nurses academic training gets less informaaon about NBS Advances in NBS Importance of NBS disorders
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