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Office of Public Health Genomics at Centers for Disease Control and Prevention

About Us

• About the Office of Public Health Genomics at Centers for Disease Control
• Welcome to the Office of Public Health Genomics
  • Genomics 2015 At a Glance
  • CDC Genomic Funding
    • 2010 Genomics Funding Opportunity
    • Past CDC Genomics Funding Opportunities
    • Translation Research and Program Funding Opportunity Annoucement
    • Prevention Research Using Genetic Information to Prevent Disease and Improve Health
  • Public Health Genomics Staff
    • Muin J. Khoury
    • Scott Bowen
  • Public Health Genomics Achievements (1997 – 2008)
  • Contact Us
  • Information for Visitors to the OPHG at CDC/OD Century Center
  • Public Health Genomics Policies and Regulations

Events

• Upcoming Events in Genetics and Public Health
  • Genetic conference materials online
    • 4th National Conference on Genomics and Public Health
    • 2000 – Genetics in Public Health- Connecting Research, Education, Practice and Community
    • Abstracts from the 1st Annual Conference on Genetics and Public Health

Genomics and Disease

• Breast and Ovarian Cancer
  • The Basics on Hereditary Breast and Ovarian Cancer
  • The BRCA1 and BRCA2 Genes and Hereditary Breast and Ovarian Cancer
  • Breast and Ovarian Cancer and Family Health History
    • Family Health History and the BRCA1 and BRCA2 genes
    • Breast and Ovarian Cancer and Family History Risk Categories
  • Genetic Counseling for Hereditary Breast and Ovarian Cancer
  • Genetic Testing for Hereditary Breast and Ovarian Cancer
  • Medical Options for Women with BRCA1 and BRCA2 mutations
  • Talking to Your Family About Your BRCA1 or BRCA2 Mutation
  • Hereditary Breast and Ovarian Cancer: Family Stories

Family History

• Family Health History Menu Page
  • Family Health History: The Basics
  • Family Health History and Planning for Pregnancy
  • Family Health History During Pregnancy
  • Family Health History and Your Child
  • Family Health History for Adults
  • Family Health History Resources for Health Professionals
  • Family Health History Resources for Researchers
  • Tools and Resources

Genetic Testing

• Genetic Testing Menu Page
  • ACCE
    • ACCE Report
    • ACCE Project
    • Foundation for Blood Research in cooperative agreement with OPHG
      • Breast Cancer
        • Breast Cancer, Analytic Validity: Draft Genetic Test Review[PDF – 358K]
        • Breast Cancer, Clinical Utility: Draft Genetic Test Review[PDF 5.1MB]
        • Breast Cancer, Clinical Validity: Draft Genetic Test Review[PDF – 534K]
        • Breast Cancer, Disorder Setting: Draft Genetic Test Review[PDF – 257K]
      • Colon Cancer
        • Colon Cancer, Analytic Validity: Draft Genetic Test Review[PDF 241KB]
        • Cystic Fibrosis, Clinical Utility: Draft Genetic Test Review[PDF 305KB]
        • Cystic Fibrosis, Clinical Validity: Draft Genetic Test Review[PDF 267KB]
        • Cystic Fibrosis, Disorder Setting: Draft Genetic Test Review[PDF 321KB]
        • Cystic Fibrosis, ELSI: Draft Genetic Test Review[PDF 240KB]
        • Cystic Fibrosis, Glossary: Draft Genetic Test Review[PDF 343KB]
        • Cystic Fibrosis, Introduction: Draft Genetic Test Review[PDF 152KB]
      • Cystic Fibrosis
        • Cystic Fibrosis, Analytic Validity: Draft Genetic Test Review[PDF 791KB]
        • Cystic Fibrosis,Clinical Utility: Draft Genetic Test Review[PDF 347KB]
        • Cystic Fibrosis, Clinical Validity: Draft Genetic Test Review[PDF 436KB]
        • Cystic Fibrosis, Disorder Setting: Draft Genetic Test Review[PDF 55KB]
        • Cystic Fibrosis, Glossary: Draft Genetic Test Review[PDF 239KB]
        • Cystic Fibrosis, Introduction[PDF 226KB]
      • Hemochromatosis
        • Hemochromatosis, Analytic Validity: Draft Genetic Test Review[PDF 559KB]
        • Hemochromatosis, Clinical Validity: Draft Genetic Test Review[PDF 497KB]
        • Hemochromatosis, Disorder Setting: Draft Genetic Test Review[PDF 89KB]
      • Venous Thromboembolism
        • Venous Thromboembolism, Analytic Validity: Draft Genetic Test Review[PDF 987KB]
        • Venous Thromboembolism , Clinical Utility: Draft Genetic Test Review[PDF 284KB]
        • Venous Thromboembolism, Clinical Validity: Draft Genetic Test Review[PDF 1.5MB]
        • Venous Thromboembolism, Disorder Setting: Draft Genetic Test Review[PDF 348KB]
  • • 2010 – Recommendations for Genetic Tests by EGAPP™ Working Group
    • 2009 – Recommendations for Genetic Tests by EGAPP™ Working Group
    • CDC Summaries of EGAPP™ Recommendation Statements
      • EGAPP™ Working Group Methods Summary
      • CYP450 Genotyping to Predict Response to SSRIs Used to Treat Non-psychotic Depression in Adults: EGAPP™ Recommendation
        • General Public: CYP450 Genotyping and Use of SSRI Drugs for Depression in Adults
        • Health Professionals: More About CYP450 Genotyping Recommendation
        • Health Professionals: More About CYP450 Genotyping and Use of SSRI Drugs for Depression in Adults
      • Tumor Gene Expression Profiling To Predict Risk of Breast Cancer Recurrence: EGAPP™ Recommendation
        • General Public: Can Tumor Gene Expression Profiling (GEP) Improve Outcomes in Patients With Breast Cancer?
        • Health Professionals: More About the EGAPP™ Tumor Gene Expression Profiling To Predict Risk of Breast Cancer Recurrence Recommendation
        • Health Professionals: Public Health Implications of Tumor Gene Expression Profiling to Predict Risk of Breast Cancer Recurrence
      • Lynch Syndrome EGAPP Recommendation
        • General Public: Genetic Testing for Lynch Syndrome
        • Health Professionals: More About the EGAPP™ Lynch Syndrome Recommendation
        • Health Professionals: More About Genetic Testing for Lynch Syndrome
      • Should UGT1A1 Genotyping Be Used to Predict Response to Irinotecan Chemotherapy? EGAPP Recommendation
        • General Public: Should UGT1A1 Genotyping be Used to Predict Response to Irinotecan Chemotherapy in Patients with Metastatic Colorectal Cancer?
        • Health Professionals: More about the EGAPP™ UGT1A1 Genotyping Recommendation
        • Health Professionals: Public Health Implications of UGT1A1 Genotyping and Use of Irinotecan Chemotherapy for Metastatic Colorectal Cancer
    • EGAPP™ Steering Committee

Epidemiology

• Human Genome Epidemiology Network
  • HuGENet™ Collaborating Organizations
  • HuGENet Frequently Asked Questions
  • How to Participate in HuGENet™
  • HuGE Case Studies
    • Diabetes
      • Interactive Case Study – Multiple genetic testing for susceptibility to common disease: PPARG and CAPN10 SNP’s and type 2 diabetes (HTML Text version)
      • Interactive Case Study – Evaluation of the TCF7L2 gene as a predictor of type 2 diabetes (HTML Text version)
    • Factor V Leiden and Venous Thrombosis
      • Case Study – Factor V Leiden and Venous Thrombosis Objectives
      • Case Study – Factor V Leiden and Venous Thrombosis
      • Case Study – FVL Answers for printing
    • Fictional Scenario on Rheumatoid Arthritis
      • Case Study – IBLAST Objectives
      • Case Study – IBLAST
      • Case Study – IBLAST Answers for printing
    • NOD2 and Crohn Disease
      • Case Study – NOD2 and Crohn Disease Objectives
      • Case Study – NOD2 and Crohn Disease
      • Case Study – NOD2 and Crone Disease Answers for printing
    • Obesity
      • Interactive Case Study – Using whole genome scans to discover obesity genes: Implications for the Clinical Utility of Genetic Testing in Obesity (HTML text version)
      • Case Study – Genetic associations with obesity
    • ODC – adenoma recurrence associated with aspirin use
      • Case Study – ODC Objectives
      • Case Study – Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene
      • Case Study – ODC Answers for printing
    • Parkinson Disease
      • Case Study – Parkinson Disease Objectives
      • Case Study – Glucocerebrosidase Gene Mutations and Parkinson Disease
      • Case Study – Parkinson Disease Answers for printing
    • Parkinson Disease and Coffee Consumption
      • Case Study – Genetics, coffee consumption, and Parkinson’s disease
      • Case Study – Genetics, coffee consumption, and Parkinson’s disease
      • Case Study – Genetics, coffee consumption, and Parkinson’s disease Answers
  • HuGE Publications
    • Khoury-Dorman Editorial – Human Genome Epidemiology Network
    • HuGE Info on the Internet
    • Commentary: Epidemiology and the Continuum from Genetic Research to Genetic Testing
    • Reporting, Appraising, and Integrating Data On Genotype Prevalence and Gene-Disease Associations
    • Genetic Test Evaluation: Information Needs of Clinicians, Policy-Makers and the Public
    • Do We Need Genomic Research for the Prevention of Common Diseases with Environmental Causes?
    • The Emergence of Networks in Human Genome Epidemiology: Challenges and Opportunities [The Changing Face Of Epidemiology]
    • The path from genome-based research to population health: Development of an international public health genomics network
    • The Human Genome Project Is Now Complete. How Do We Develop a Handle for the Pump?
    • Turning the Pump Handle: Evolving Methods for Integrating the Evidence on Gene-Disease Association
    • Human Genome Epidemiology (HuGE)- Translating Advances in Human Genetics into Population-based Data for Medicine and Public Health
  • HuGE Reviews

Implementation

• Genomics Implementation
  • Tier 1 Genomic Applications Toolkit for Public Health Departments
    • Tier 1 Genomic Applications and their Importance to Public Health
    • State and Local Public Health Departments Can Play Key Roles in Addressing Tier 1 Genomic Applications
    • How to Use This Toolkit
    • New Update Log
    • More Detailed Information on Key Tier 1 Applications – Lynch Syndrome
    • Phase 1 LS Approaches
    • Phase 2 LS Approaches
    • Lynch Syndrome tools and educational materials
    • LS Tier 1 tools and educational materials from states and other sources
    • Selected LS Tier 1 publications
    • More Detailed Information on Key Tier 1 Applications – Hereditary Breast and Ovarian Cancer (HBOC)
    • Phase 1 HBOC Approaches
    • Phase 2 HBOC Approaches
    • CDC tools and information on HBOC Tier 1
    • HBOC Tier 1 tools and educational materials from states and other sources
    • Selected HBOC Tier 1-related journal publications
    • More Detailed Information on Key Tier 1 Applications – Familial Hypercholesterolemia
    • Additional Information on Phase 1 FH Approaches
    • Phase 2 FH Approaches
    • FH tools and educational materials
    • FH Tier 1 tools and educational materials from states and other sources
    • Selected FH Tier 1 related publications
    • Tier 1 Implementation Videos, Other Tools, and Resources Available to Help

Pathogen Genomics

• Pathogen Genomics Menu Page

Population Research

• Population Health Menu Page
  • 2008 CDC Seed Funding for Public Health Genomics Research
  • 2006 CDC Seed Funding for Public Health Genomics Research
  • Influenza
    • Workshop
  • Genome Variation Estimates
    • Allele Genotype Tables
    • Genetic Variants Available, by Gene
    • Genotyping Methods
    • Spotlight
    • Frequencies
      • ABCB1 Allele and Genotype Frequencies
      • ACE Allele and Genotype Frequencies
      • ADH1B Allele and Genotype Frequencies
      • ADH1C Allele and Genotype Frequencies
      • ADRB1 Allele and Genotype Frequencies
      • ADRB2 Allele and Genotype Frequencies
      • ADRB3 Allele and Genotype Frequencies
      • ALAD Allele and Genotype Frequencies
      • CAPN10 Allele and Genotype Frequencies
      • CAT Allele and Genotype Frequencies
      • CBS Allele and Genotype Frequencies
      • CCL5 Allele and Genotype Frequencies
      • CCR2 Allele and Genotype Frequencies
      • CXCL12 Allele and Genotype Frequencies
      • CYP1A1 Allele and Genotype Frequencies
      • CYP1A2 Allele and Genotype Frequencies
      • CYP1B1 Allele and Genotype Frequencies
      • CYP2A6 Allele and Genotype Frequencies
      • CYP2C19 Allele and Genotype Frequencies
      • CYP2C9 Allele and Genotype Frequencies
      • CYP2E1 Allele and Genotype Frequencies
      • CYP3A4 Allele and Genotype Frequencies
      • F2 Allele and Genotype Frequencies
      • F5 Allele and Genotype Frequencies
      • FAM82A Allele and Genotype Frequencies
      • FCGR2A Allele and Genotype Frequencies
      • FGB Allele and Genotype Frequencies
      • IL10 Allele and Genotype Frequencies
      • IL1B Allele and Genotype Frequencies
      • IL4 Allele and Genotype Frequencies
      • IL4R Allele and Genotype Frequencies
      • ITGA2 Allele and Genotype Frequencies
      • ITGB3 Allele and Genotype Frequencies
      • MBL2 Allele and Genotype Frequencies
      • MTHFR Allele and Genotype Frequencies
      • MTRR Allele and Genotype Frequencies
      • NAT2 Allele and Genotype Frequencies
      • NOS2A Allele and Genotype Frequencies
      • NOS3 Allele and Genotype Frequencies
      • NQO1 Allele and Genotype Frequencies
      • OGG1 Allele and Genotype Frequencies
      • PON1 Allele and Genotype Frequencies
      • PPARG Allele and Genotype Frequencies
      • SERPINE1 Allele and Genotype Frequencies
      • TGFB1 Allele and Genotype Frequencies
      • TLR4 Allele and Genotype Frequencies
      • TNF Allele and Genotype Frequencies
      • VDR Allele and Genotype Frequencies
      • XRCC1 Allele and Genotype Frequencies
  • NHANES
    • NHANES Accomplishment

Resources Links

• Resource Links for Office of Public Health Genomics
  • A – B – C – D – E – F – G – H – I – J – N – P – R – S
  • Blog
  • Books
    • Human Genome Epidemiology (2nd ed.): Building the evidence for using genetic information to improve health and prevent disease (2010)
      • Part 1, Chapter 1 – Human genome epidemiology: The road map revisited
      • Part 1, Chapter 4 – Navigating the evolving knowledge of human genetic variation in health and disease
      • Part 2, Chapter 7 – The emergence of networks in human genome epidemiology: Challenges and opportunities
      • Part 2, Chapter 10 – STrengthening the REporting of Genetic Association Studies (STREGA)—An extension of the STROBE statement
      • Part 2, Chapter 12 – Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human disease
      • Part 3, Chapter 13 – Colorectal cancer
      • Part 4, Chapter 22 – Evaluation of predictive genetic tests for common diseases: Bridging epidemiological, clinical, and public health measures
      • Part 4, Chapter 23 – The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) initiative: Methods of the EGAPP™ working group
      • Part 4, Chapter 26 – Assessing the evidence for clinical utility in newborn screening
      • Part 4, Chapter 29 – The use of family history in public health practice: the epidemiologic view
    • Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease (2004)
      • Contibutors
      • Chapter 1: Scope and Strategies
      • Chapter 4: Ethical, Legal, and Social Issues in the Design and Conduct of Human Genome Epidemiologic Studies
      • Chapter 5: Methods for Assessing Genotypes in Human Genome Epidemiology Studies
      • Chapter 7: Facing the Challenge of Complex Genotypes and Gene-environment Interaction: the basic epidemiologic units in case-control and case-only designs
      • Chapter 9: Applications of Human Genome Epidemiology to Environmental Health
      • Chapter 10: Reporting and Review of Human Genome Epidemiology Studies
      • Chapter 11: Epidemiologic Approach to Genetic Tests: Population-Based Data for Preventive Medicine
      • Chapter 22: Immunogenetic Factors in Chronic Beryllium Disease
      • Chapter 23: Fragile X Syndrome: Application of Gene Identification to Clinical Diagnosis and Population Screening
      • Chapter 24: From Epidemiology to Clinical Practice: The Connexin Connection
      • Chapter 28: Hereditary Hemochromatosis
      • Chapter 29: Using Human Genome Epidemiology Information to Improve Health
    • AJHG Book Review – Genetics and Public Health in the 21st Century (2002)
    • Integrating Genomics into Public Health Policy and Practice (2002)
    • AJHG Book Review- Genetics and Public Health in the 21st Century (2001)
    • Genetics and Public Health in the 21st Century- Using Genetic Information to Improve Health and Prevent Disease (2000)
      • Part 1 – Genetics and Public Health- An Overview; Chapter 1 – Genetics & Public Health- A Framework for the Integration of Human Genetics into Public Health Practice
      • Part 2 – Public Health Assessment; Chapter 7 – Surveillance for Birth Defects & Genetic Diseases
      • Part 2, Chapter 8 – Surveillance for Hemophilia and Inherited Hematologic Disorders
      • Part 2; Chapter 9 – Public Health Assessment of Genetic Predisposition to Cancer
      • Part 2; Chapter 10 – Public Health Assessment of Genetic Susceptibility to Infectious Diseases- Malaria, TB and HIV
      • Part 2; Chapter 11 – Public Health Assessment of Genetic Information in the Occupational Setting
      • Part 3 – Evaluation of Genetic Testing; Chapter 13 – Newborn Screening Quality Assurance
      • Part 4 – Developing, Implementing, and Evaluating Population Interventions; Chapter 18 – Genetics and Prevention Effectiveness
      • Part 4, Chap. 22 Newborn Screening for Sickle Cell Disease- Public Health Impact and Evaluation
      • Part 4, Chap. 23 Public Health Strategies to Prevent the Complications of Hemochromatosis
      • Part 5- Genetics and Public Health- Ethical, Legal, and Social Issues – Chap. 27 Public Health Surveillance of Genetic Information- Ethical and Legal
      • Part 6- Communication, Education, and Information Dissemination – Chap. 31 Using the Internet to Disseminate Genetics Information for Public Health
    • Genetic Epidemiology (1997)
    • Epidemiology (1997)
  • Data and Statistics
    • Monthly Web Statistics
      • Current Web Statistics
  • Educational materials
  • Genetic Diseases
    • Breast and Ovarian Cancer
      • Genetic Counseling and Evaluation for BRCA1/2 Testing
      • Quick Facts About Family Health History and Genetic Testing for Breast Cancer and Ovarian Cancer
      • Breast and Ovarian Cancer and Family History Risk Categories
      • Breast and Ovarian Cancer and Genetic Testing
    • Colorectal Cancer
    • Heart Disease
    • Hemochromatosis
    • Mental Health
    • Obesity and Genetics
      • Editorial on Obesity
      • Obesity and Genetics: What We Know
    • Skin Cancer
    • Stroke
  • Scientific Articles
  • Software on this site
  • CDC Genomic Podcasts/Videos

Training & Education

• Training Menu Page

Translation

• Genomics Translation
  • Genomic Competencies for the Public Health Workforce
    • Frequently Asked Questions About Competencies for Genetics in Public Health
    • Taxonomy of Educational Objectives- Affective Domain
    • Genomic Competencies for the Public Health Workforce Background
    • Taxonomy of Educational Objectives- Cognitive Domain
    • Notes on Competency Development
    • Public Health in America: Integrating Genetics
    • Beyond Genomic Competencies 2001
    • History and background for Genetics and Public Health
    • Genomic Competencies for the Public Health Workforce Introduction
    • Genomic Competencies for the Public Health Workforce Process
    • Genomic Competencies for the Public Health Workforce Genomic Project Description
    • Taxonomy of Educational Objectives- Psychomotor Domain
    • Competencies for the Public Health Workforce- Integrating Genetics
    • Taxonomy of Educational Objectives
    • Team leaders and members
  • Genomics Translation Projects Key Achievements Year 1
  • Centers for Genomics
  • Genomics Translation Projects Funded by CDC
  • Prevention and Translation Research Initiative
  • GAPPNet™
    • Products
    • Major Functions
    • Genomics Translation Projects Supported by AHRQ
  • Genetics for Early Disease Detection and Intervention

Weekly Update

• Genomics and Health Impact Update