Pediatric Screening and Genetic Services

Pediatric Screening and Genetic Services An Overview of Programs and Services Updated: June 27, 2006 1 Introduction  The following slides present an overview of Pediatric Screening and Genetic Services(PSGS), including: – – – Virginia Early Hearing Detection and Intervention Program Virginia Genetics Program Special Projects  PSGS is a unit within the Virginia Department of Health, Office of Family Health Services, Division of Child and Adolescent Health. 2 Location PSGS is located on the 8th floor of the Madison Building in downtown Richmond, Virginia. 3 Virginia Department of Health Virginia Department of Health 109 Governor Street, 8th Floor Richmond, Virginia Organization    The Office of Family Health Services is one of five offices under the Deputy Director for Public Health. The Division of Child and Adolescent Health is one of five divisions within the Office of Family Health Services. Pediatric Screening and Genetic Services is a unit that is located within the Division of Child and Adolescent Health. 4 Virginia Department of Health STATE HEALTH COMMISSIONER ROBERT B. STROUBE, MD, MPH Audit Director Richard Corrigan Adjudication Officer Douglas Harris Organization VIRGINIA DEPARTMENT OF HEALTH OFFICE OF THE COMMISSIONER DECEMBER 2005 Chief Medical Examiner Marcella Fierro, MD Executive Advisor Joseph Hilbert Public Relations Manager Jeff Caldwell Deputy Commissioner for Public Health Jim Burns, MD Deputy Commissioner for Administration Helen Tarantino Deputy Commissioner for Community Health Services Jeffrey Lake Office of Information Management Jim Burns, MD Deputy Commissioner of Emergency Preparedness & Response Lisa Kaplowitz, MD Center for Quality Health Care Services & Consumer Protection Nancy Hofheimer Health Policy and Planning Rene Cabral-Daniels, Director Office of Epidemiology Office of Human Resources Office of Budget Services Office of Purchasing and General Services Office of Accounting 35 Health Districts Director of Public Health Nursing Policy and Planning Manager Division of Vital Records Center For Health Statistics Information Systems Education and Training Director State Planning Director Regional MD Consultants (5) Center for Primary Care and Rural Health Division of Acute Care Services Minority Health Office of Family Office of Family Health Services Health Services Office of Emergency Medical Services Office of Environmental Health Services Division of Long Term Care Services Division of Certificate of Public Need Training and Education Office of Drinking Water Office of Family Health Services DEPUTY COMMISSIONER FOR PUBLIC HEALTH JIM BURNS, MD, MBA Executive Advisor Rosanne Kolesar Administrative Staff Assistant Catherine West VIRGINIA DEPARTMENT OF HEALTH OFFICE OF PUBLIC HEALTH DECEMBER 2005 Organization Office of Family Health Services David Suttle, MD Division of Women's and Infants' Health Joan Corder-Mabe Office of Epidemiology Carl Armstrong, MD Division of Health Hazards Control Khizar Wasti Office of Environmental Health Services Robert Hicks Division of Food & Environmental Services Gary Hagy Office of Emergency Medical Services Gary Brown Emergency Operations Division Jim Nogle Office of Drinking Water Wes Kleene Division of Technical Services Steve Pellei Division of Child and Adolescent Health Joanne Boise Division of Surveillance and Investigation Diane Woolard Division of Onsite Sewage and Water Services Donald Alexander Division of Wastewater Engineering Cal Sawyer Education and Regulation Division Scott Winston Division of Construction Assistance, Planning & Policy Tom Gray Division of Dental Health Karen Day Division of Disease Prevention Casey Riley Trauma/Critical Care Division Paul Sharpe Division of WIC & Community Nutrition Services Donna Seward Center of Injury & Divisionfor Injury & Violence Prevention Violence Prevention Erima Shields-Fobbs Division of Immunization Jim Farrell Division of Shellfish Sanitation Robert Croonenberghs Erima Shields-Fobbs Division of Zoonotic & Environmental Epidemiology Susan Davis, MD, Acting Division of Chronic Disease Prevention and Control Ramona Schaeffer Organization Division of Child and Adolescent Health Director of Child and Adolescent Health Joanne Boise Policy and Planning Supervisory Susan Tlusty Data Manager Vacant Statistical Analyst Sr. Vacant Early Childhood Program Bethany Geldmaker CSHCN Nancy Bullock Pediatric Screening and Genetic Services Nancy Ford Adolescent Health Anne Rollins Organization Pediatric Screening and Genetic Services Director of Child and Adolescent Health Joanne Boise Policy and Planning Supervisory Susan Tlusty Data Manager Vacant Statistical Analyst Sr. Vacant Early Childhood Program Bethany Geldmaker CSHCN Nancy Bullock Pediatric Screening and Genetic Services Nancy Ford Adolescent Health Anne Rollins Virginia EHDI Program Pat Dewey Virginia Genetics Program Sharon Williams VaCATPIP II VaCHISIP VISITS Pediatric Screening and Genetic Services Mission Pediatric Screening and Genetic Services works to improve the health of children and families by preventing birth defects and developmental disabilities, promoting optimal child development, and promoting health and wellness among children and adolescents living with disabilities. 9 Pediatric Screening and Genetic Services Components   Virginia Early Hearing Detection and Intervention Program Virginia Genetics Program – – Virginia Newborn Screening Services Virginia Congenital Anomaly Reporting and Education System  Special Projects – – – Virginia Infant Screening and Infant Tracking System Virginia Congenital Anomalies Tracking & Prevention Improvement Project Virginia Child Health Information Systems Integration Project 10 Virginia Early Hearing Detection and Intervention Program Pat Dewey, M. Ed. Program Manager 11 Virginia Early Hearing Detection and Intervention Program Organization Virginia EHDI Program Pat Dewey Surveillance & Evaluation Coordinator Sue Lau Follow-Up Coordinator Ruth Frierson Follow-Up Specialist Sue Lambert Support Technician Darlene Donnelly Virginia EDHI Program Goal The goal of the Virginia Early Hearing Detection and Intervention program is to identify congenital hearing loss in children before three months of age and to assure enrollment in appropriate services early intervention services before six months of age. 13 Virginia EDHI Program Priorities: VDH Service Area Plan Objective 43002.01 : Identify clinical conditions that, if not detected and treated early, may result in significant morbidity and mortality to infants and children. Measure: Percent of newborns born in Virginia who are screened for hearing loss before hospital discharge, based on a calendar year. Baseline: 96.5% of infants who were born in Virginia, were screened for hearing loss before hospital discharge, based on average of calendar years 2003 and 2004 Targets:  Increase to 97% for calendar year 2005, to be reported in FY 07.  Increase to 97.5% for calendar year 2006, to be reported in FY 08.  Increase to ____% for calendar year 2007, to be reported in FY 09. 14 Virginia EDHI Program …Priorities: VDH Service Area Plan Objective 43002.02 : Link children, adolescents, and families to personal health services and community resources. Measure: Percent of infants diagnosed with a hearing loss who receive early intervention services before six months of age. Baseline: 49.3% of infants who were born in Virginia and reported with hearing loss, received early intervention services before 6 months of age, based on average of calendar years 2003 and 2004. Targets:  Increase to 55% for calendar year 2005, to be reported in FY 07.  Increase to 60% for calendar year 2006, to be reported in FY 08.  Increase to ____% for calendar year 2007, to be reported in FY 09. 15 Virginia Early Hearing Detection and Intervention Program Overview  Mandated screening of all newborns – – Code of Virginia § 32.1-64.1. Regulations 12VAC 5-80    16 Hospitals required to identify infants at risk for hearing loss, inform families and PMCP in writing, and report to VDH VDH responsible for data collection, racking and follow-up, program evaluation Persons who provide audiological services responsible for reporting to VDH Virginia Early Hearing Detection and Intervention Program …Overview    Advisory Committee mandated Parent to Parent contact State agency partners: – – – Virginia Department of Education Virginia Department for the Deaf and Hard of Hearing Virginia Department of Mental Health, Mental Retardation, and Substance Abuse Services—lead agency, Part C of IDEA 17 Virginia Early Hearing Detection and Intervention Program …Overview    Web-based electronic database and reporting system (VISITS) Training and education component Protocols – – – Hospital Screening Audiologic Assessment Medical Management 18 Virginia Early Hearing Detection and Intervention Program Annual Reports  2004 –  2005 (preliminary) – – – – 83.8 % of infants who failed screening received follow up 64.5% with diagnosis before age 3 months 95 infants with hearing loss 61.1% of infants receiving intervention before age 6 months – – 81.3% of infants who failed screening received follow up 63.3% with diagnosis before age 3 months 103 infants with hearing loss 19 Virginia Genetics Program Sharon Williams, M.S., R.N. Program Manager 20 Virginia Genetics Program Organization Program Manager Sharon Williams Newborn Screening Nurse Senior Lynette Bartlett Newborn Screening Nurse Audrey Greene Newborn Screening Nurse Vacant VNSS Support Technician Charlotte Davis VaCARES Support Technician Rafael Randolph Virginia Genetics Program Goal The Virginia Genetics Program is part of a statewide system to reduce unnecessary morbidity from potential or existing genetic conditions by assuring access to the appropriate education, testing, counseling and treatment to residents of the Commonwealth. 22 Virginia Genetics Program Priorities: VDH Service Area Plan Objective 43002.01: Identify clinical conditions that, if not detected and treated early, may result in significant morbidity and mortality to infants and children. Measure: Percent of infants born in Virginia who are screened for selected heritable disorders/ genetic diseases, based on a calendar year. Baseline: 100% of infants who were born in Virginia, were screened for selected heritable disorders/genetic diseases, based an average of calendar years 2003 and 2004. Targets:  Maintain at 100% for calendar year 2005, to be reported in FY 07.  Maintain at 100% for calendar year 2006, to be reported in FY 08.  Maintain at 100% for calendar year 2007, to be reported in FY 09. 23 Virginia Genetics Program …Priorities: VDH Service Area Plan Objective 43002.02 : Link children, adolescents, and families to personal health services and community resources. Measure: Percent of infants identified with a critical result for heritable/genetic disorders and referred for follow up by 6 months of age. . Baseline: 100% of infant who were born in Virginia and identified with a critical result for selected heritable disorders/genetic diseases, were referred for follow up by 6 months of age, based on average of calendar years 2003 and 2004. . Targets:  Maintain at 100% for calendar year 2005, to be reported in FY 07.  Maintain at 100% for calendar year 2006, to be reported in FY 08.  Maintain at 100% for calendar year 2007, to be reported in FY 09 . 24 Virginia Genetics Program Key Components      Virginia Congenital Anomalies Reporting and Education System (VaCARES) Virginia Newborn Screening Services Formula Distribution and Purchase Plan Regional Genetic Centers Virginia Genetics Advisory Committee Note: The Virginia Sickle Cell Awareness Program and Centers is under the Division of Women's and Infants' Health 25 Virginia Congenital Anomalies Reporting and Education System 26 VaCARES: Overview  Virginia’s Birth Defects Registry – – – A birth registry of children under the age of 2 with congenital anomalies. About 40 birth defects surveillance systems exist in the U.S. Managed by the Virginia Genetics Program with consultation provided by VCU, Dept. of Human Genetics. Evaluate the possible causes of birth defects Improve the diagnosis and treatment of birth defects. Establish a mechanism for informing the parents of children identified as having birth defects and their physicians about the health resources available to aid such children.  Established by the Code of Virginia in 1985 to: – – – 27 VaCARES Surveillance Methodology Evaluation Plan VaCARES Flow Chart Birth of child with congenital anomaly reportable to VaCARES Hospitalization of child under 2 years of age with congenital anomaly reportable to VaCARES Child with congenital anomaly identified at a Regional Genetics Center VCU, EVMS, UVA Diagnosis by physician Record entry into VISITS Records forwarded to VaCARES staff Child discharged or dies in hospital, recorded in hospital discharge data Newborn Screening Diagnosed Disorders Hospital fails to report infant Discharge data report run, eligible ICD9CM discharges identified by hospital VISITS user Creation of reports VaCARES staff de-duplicate entries. VaCARES entries matched with birth certificates Reports sent to: Health District Directors Health District Nurse Managers Local Health Department Directors March of Dimes, NBDPN VaCARES entries matched with death certificates Follow-up with children and families, fact sheets and support services VaCARES staff conducts record reviews, calculates hospital reporting rate; sends report to hospital Hospital reports any previously unreported cases VaCARES 10-Year Report 1989-1998 VaCARES Birth Defects Data Project  Initiated in 1999, completed 2003  Data Sources – VaCARES Hospital Reports   Past: Manual Reports Present & Future: Electronic Report via VISITS – – 29 Birth and Death Certificates Virginia Newborn Screening Services VaCARES 10-Year Report Objectives     Collect, analyze, and disseminate Virginia population-based birth defect surveillance data. Encourage the use of birth defect data for decisions regarding health services planning (secondary disabilities prevention and services). Improve the quality of birth defect surveillance data. Promote scientific collaboration for the prevention of birth defects. 30 VaCARES 10-Year Report Key Findings  About 4600 children were born with birth defects every year. – – 4.9 % of live births, which is within the U.S. range of 3-5%. Ranged from mild to severe.   Birth defect rate fluctuates from year to year. – No consistent increase or decrease. On average, 270 children died of birth defects every year. – Fatality rate was approximately 5.8%. 31 VaCARES 10-Year Report …Key Findings  Factors that had a statistically significant association with the birth defect rate: – – – – Male children had a higher rate of birth defects than females (5.5 % versus 4.4%). Black or African-American children had a higher rate than white children (7.1% versus 4.3%). Children from multiple births were more likely to have birth defects than children from single births (9.2-22.2% versus 4.8%). Children who were born at low birth weight were more likely to have birth defects than children with full birth weight (14.2% versus 4.2%). 32 VaCARES 10-Year Report …Key Findings  …(continuation of factors) – – – Preterm children were at higher risk of having birth defects than full-term children (10.8% versus 4.2%). Mothers less than 20 years of age had a greater chance of having a child with a birth defect(s) than mothers aged 20 years or older (6.5% versus 4.7%). Mothers who reported smoking or who reported smoking and drinking had a significantly higher chance of having a child with birth defect(s) than non-smoking/drinking mothers (6.0 and 8.1% versus 4.8%). 33 VaCARES 10-Year Report Selected Birth Defects Percent of live births (Cases are defined by ICD-9)  Cardiovascular anomalies 1.27%  Eye anomalies and vision impairment 0.24%  Ear anomalies and hearing impairment 0.17%  Cleft lip and/or palate 0.13%  Down syndrome 0.09%  Hydrocephalus 0.08%  NTDs (anencephaly/spinal bifida) 0.06%  Prenatal exposure to alcohol, narcotics, or hallucinogens 0.04% 34 …VaCARES 10-Year Report Neural Tube Defects 35 Neural Tube Defects in Virginia Rate of NTDs* Among Live Births in Virginia FY 1996 FY 1997 FY 1998 FY 1999 FY 2000 Annual Performance Objective 8 7 6.3 5.6 5 Annual Performance Indicator: Rate 6.7 7.5 3.9 3.8 1.6 Numerator: # NTD 62 69 37 36 16 Denominator: # Live Births 92,115 91,664 94,114 95,243 98,864 *NTDs include anencephaly, spina bifida, and encephalocele. ICD-9 Codes: 740 Total, 741 Total , and 7420. 36 Neural Tube Defects in Virginia 37 *NTDs include anencephaly, spina bifida, and encephalocele. ICD-9 Codes: 740 Total, 741 Total , and 7420. VIRGINIA NEWBORN SCREENING SERVICES 38 Virginia Newborn Screening Services    Newborn Screening is mandated by the Code of Virginia. Virginia began screening newborns in 1966 with one disorder: Phenylketonuria (PKU). On March 1, 2006, as a result of legislation passed by the 2005 General Assembly, the Virginia Newborn Screening Services expanded its core panel of disorders from 11 to 28 disorders. 39 Virginia Newborn Screening Services Newborn Screening Follow Up is a Partnership     Newborn and Parents Health Care Providers Division of Consolidated Laboratory Services Virginia Department of Health, Virginia Newborn Screening Services 40 Virginia Newborn Screening Services Abnormal Screens per Month Abnormal Screens per Month 2002 1000 900 800 700 600 500 400 300 200 100 0 JAN FEB MAR APR MAY JUN JUL AUG SEP OCT NOV DEC 41 Virginia Newborn Screening Services Diagnosed Cases by Disorder VNSS Diagnosed Cases 2002 300 269 250 200 150 100 61 33 1 6 ia as pl r pe hy 50 36 3 5 3 5 0 se ida in ot Bi n ge on C l na re d la ita e ia ia ia m m e m ur m m as as ris dis dis se se on ta is e oi oi se i r y d to to et ui d c c it y hy hr lk la th ot ot op ine ny ala Ga G pa yp yp ur yp he o H H H p ic P nt in y ru nt ia ss ar lob la sy ar si e C V im og le an Pr m ap Tr M He 42 Pediatric Screening and Genetic Services Special Projects    Virginia Infant Screening and Infant Tracking System Virginia Congenital Anomalies Tracking & Prevention Improvement Project Virginia Child Health Information Systems Integration Project 43 Virginia Infant Screening and Infant Tracking System 44 What is VISITS?  VISITS is a Web-based integrated database system that tracks screening results for four programs and services administered by VDH. – – – – Virginia’s birth defects registry (VaCARES) Virginia Early Hearing Detection and Intervention Program At-Risk for Developmental Delay (Part C) Virginia Newborn Screening Services   VISITS I developed by VDH/DCAH through a contractual arrangement with EVMS/Welligent,LLC VISITS II being developed by VDH Office of Information Management through a contractual agreement with VDH/DCAH, with major funding provided by CDC VaCHISIP grant. 45 What does VISITS look like to the end user? All VISITS Users enter the secure system through the following VISITS Public Web Page. https://vdhems.vdh.virginia.gov/hi_docs/visits.html 46 Hearing Screening Users Click Here VaCARES (Virginia’s birth defect registry) Users Click Here At-Risk (for Development Delay, Part C) Users Click Here (Pilot Phase) The user enters their unique user name and password in this pop-up window. DO NOT CLICK. For security reasons, users are requested not to have system remember password. After user clicks OK, the VISITS Messaging Center will appear (next slide) VISITS MessageVISITS Center Messaging Center 49 Hospital Users Click Here to Enter Data Specific to Program: 1. Hearing Screening 2. Hearing Follow Up 3. VaCARES (Birth Defects Registry) 4. At-Risk (For Development Delay, Part C) 50 Hospital Module: Main Menu 51 52 53 VISITS Summary Screen 54 Enter Birth Defect Registry Data -- Top of Screen 55 Enter Birth Defect Registry Data - Bottom of Screen 56 57 58 59 60 Virginia Congenital Anomalies Tracking & Prevention Improvement Project Centers for Disease Control and Prevention Cooperative Agreement Program Announcement 05009 61 VaCATPIP II    In February 2006, VDH was awarded a 5-year CDC Cooperative Agreement for ―Population-Based Birth Defects Surveillance Programs and the Utilization of Surveillance Data by Public Health Programs.‖ Funds were awarded to continue the Virginia Congenital Anomalies Tracking Prevention and Improvement Project (VaCATPIP), which was established under a previous 3-year CDC Cooperative agreement. The VaCATPIP II budget period is March 1, 2005 – Feb. 28, 2010. 62 …VaCATPIP II The purposes of VaCATPIP II are:  Support the enhancement of the VDH birth defects surveillance program, Virginia Congenital Anomalies Reporting and education System (VaCARES).  Utilization of VaCARES data to prevent birth defects and improve access to healthcare services. 63 …VaCATPIP II The goals of VaCATPIP II are: 1. Further enhancement, expansion, and evaluation of VaCARES. 2. Development, implementation, expansion, and evaluation of population-based programs to prevent birth defects. 3. Development, implementation, expansion, and evaluation of activities to improve the access of children with birth defects to health and early intervention services. 64 Virginia Child Health Information Systems Integration Project Centers for Disease Control and Prevention Cooperative Agreement Program Announcement 05028 65 VaCHISIP    In July 2005, VDH was awarded a 3-year CDC Cooperative Agreements for ―Early Hearing Detection and Intervention (EDHI) Tracking, Surveillance, and Integration.‖ Funds were awarded to establish the Virginia Child Health Information Systems Integration Project (VaCHISIP). The budget period is July 2, 2005 – June 30, 2008. 66 …VaCHISIP The goals of VaCHISIP are: 1. Produce and implement a redesigned Virginia Infant Screening and Infant Tracking System (VISITS II). 2. Use VISITS II data to guide and support child and adolescent health clinical and programmatic decisions. 3. Integrate/link VISITS II with other child health information systems. 67 The End For more information about Pediatric Screening and Genetic Services, please visit our Web site: http://www.vahealth.org/PSGS/index.asp 68