March 2006 Virginia GeneSEAN Genetic Services and Education – An Assessment of Needs A Comprehensive Assessment of Medical Genetic Services and Education in the Commonwealth of Virginia ACKNOWLEDGEMENTS The authors of this report gratefully acknowledge the support of the March of Dimes in sustaining initiatives that work for healthy babies and families. The genetic consumers, primary care physicians, and genetic providers throughout the Commonwealth who participated in focus groups and completed surveys provided invaluable insights, and their efforts are much appreciated. Individuals at the Virginia Department of Health, especially within Pediatric Screening and Genetic Services, as well as Virginia Genetic Advisory Committee members who responded to our many inquiries were also a vital part of making this report a reality. Realizing the goals of genetic services and education, to optimize health and improve the quality of life for individuals with or at risk for genetic conditions through appropriate care, information, and support, depends on the collaboration of all Virginians. Joann Bodurtha, MD, MPH Katherine Teague, MS, CGC Principal Investigator Project Coordinator Karen Meister, MS, CGC Suzanne Dennis-Tait, MS Project Coordinator Fiscal Investigator Sara Plummer, MSW Elena Zvirbulis, BA Focus Group Moderator Student Assistant Additional information about this report is available from: Joann Bodurtha, MD, MPH Professor Virginia Commonwealth University Department of Human Genetics P. O. Box 980033 Richmond, Virginia 23298-0033 (804) 828-9632 This project was supported by a grant from the Virginia Chapter of the March of Dimes. i TABLE OF CONTENTS ACKNOWLEDGEMENTS .............................................................................................................i TABLE OF CONTENTS ...............................................................................................................ii LIST OF ACRONYMS .................................................................................................................vi EXECUTIVE SUMMARY ..............................................................................................................1 Study Purpose and Goals .................................................................................................................1 Study Objectives and Methodology.................................................................................................1 Key Findings....................................................................................................................................2 1. AN INTRODUCTION TO GENESEAN .....................................................................................5 Medicine and the New Genetics ......................................................................................................5 GeneSEAN Project Overview..........................................................................................................5 2. HISTORICAL BACKGROUND.................................................................................................7 Ancient History: Laying the Foundation .........................................................................................7 The Birth of Genetic Science...........................................................................................................8 A Closer Look: The Influence of the Eugenic Movement...............................................................9 Of Fruit Flies and Man: The Origins of Clinical Genetics ............................................................10 The View from Outside: The Integration of Genetics into Other Medical Specialties..................12 The Next Frontier: The Human Genome Project...........................................................................13 A Glimpse into the Future..............................................................................................................14 3. WELCOME TO VIRGINIA: A LOOK AT THE STATE AND ITS HEALTH ............................15 Virginia’s Geography.....................................................................................................................15 Figure 3-1. Virginia - Counties and Independent Cities ..................................................15 Economic Foundations...................................................................................................................16 Who is Virginia?............................................................................................................................16 Table 3-1. Virginia’s Metropolitan Area Populations (2000 census)...............................17 Table 3-2. Virginia’s Ten Most Populous Cities (2000 census) .......................................17 The Health of Virginians ...............................................................................................................18 Table 3-3. Ten Leading Causes of Death in Virginia, 1998 .............................................18 Table 3-4. Virginia 2001 Infant Mortality Rates per 1000 Live Births ............................19 Figure 3-2. Commonwealth of Virginia by HSA Regions.................................................20 The Contribution of Genetic Disease.............................................................................................21 Table 3-5. Selected Common Birth Defects in Virginia....................................................22 4. GENETIC SYSTEMS OF CARE IN VIRGINIA .......................................................................24 Clinical Genetic Service Centers ...................................................................................................24 Figure 4-1. Genetic Clinic Locations, Virginia ................................................................24 Table 4-1. Total Patient Volume Estimates at Selected Clinical Sites..............................25 Genetic Outreach Programs ...........................................................................................................27 Workforce, Workload, and Manpower Issues ...............................................................................27 Virginia’s Genetic Legislation.......................................................................................................29 Figure 4-2. Organizational Structure of Genetic Activities in VDH ................................31 ii Table 4-2. Genetic Resource Organizations.....................................................................34 Evolving Healthcare Needs in Genetics.........................................................................................36 5. GENETIC PROVIDER SURVEYS: KEY INSIGHTS, IDENTIFIED NEEDS, AND PERCEIVED BARRIERS .................................................................................................................................38 Overview........................................................................................................................................38 Genetic Services in Virginia ..........................................................................................................39 Quality Assurance..........................................................................................................................40 Available Resources.......................................................................................................................40 Reimbursement Issues ...................................................................................................................41 Legal Questions .............................................................................................................................41 State Leadership.............................................................................................................................41 Educational Needs .........................................................................................................................42 6. PAYING FOR GENETIC SERVICES: A REVIEW OF VIRGINIA HEALTH INSURANCE ISSUES.......................................................................................................................................43 The Origins of Health Care Plans ..................................................................................................43 Table 6-1. Types of Insurance Coverage ..........................................................................44 Table 6-2. Insurance Coverage for Children....................................................................44 Determinants of Health Care Coverage .........................................................................................44 Coverage of Genetic Services........................................................................................................45 Table 6-3. Coverage of Genetic Services in Virginia .......................................................46 7. NON-GENETIC HEALTHCARE PROVIDERS: CURRENT PRACTICE AND FUTURE ROLES IN GENETICS................................................................................................................49 Traditional Roles and Interactions.................................................................................................49 Table 7-1. Common Referral Indications for Pediatric Genetic Services ........................50 Primary Care Providers: Knowledge, Attitudes, and Gaps in Care ...............................................51 Models for Integrating and Improving Care ..................................................................................54