Additional References

• Estimated Analytic Validity of HFE C282Y Mutation Testing in Population Screening: The Potential Value of Confirmatory Testing
  G. Palomaki et al. Genetics in Medicine;5(6):440-443, (2003)
• Analytic Validity of Cystic Fibrosis Testing: A Preliminary Estimate
  G. Palomaki et al. Genetics in Medicine;5(1):15-20, (2003)
• Updated Assessment of Cystic Fibrosis Mutation Frequencies in Non-Hispanic Caucasians
  G. Palomaki et al. Genetics in Medicine;4(2):90-94, (2002)
• Issues in Implementing Prenatal Screening for Cystic Fibrosis: Results of a Working Conference
  J. Haddow et al. Genetics in Medicine;1(4):129-135, (1999)
  

 Genetic Testing Public Health Perspectives

• Genes Direct: Ensuring the Effective Oversight of Genetic Tests Supplied Directly to the Public
  Human Genetics Commission; (March 2003)
• Genetic Testing for Breast and Ovarian Cancer Susceptibility: A Public Health Perspective (2003)
• Hereditary Hemochromatosis: A Public Health Perspective (2001)

 Fact Sheets

• American Acdemy of Pediatrics Newborn Screening Fact Sheets (2006) (419KB)
• Using Genetic Information to Improve Health and Prevent Disease (2003)
• Commentary: Epidemiology and the Continuum from Genetic Research to Genetic Testing (2002)

Journal publications

• Horizon Scan on the Use of Genetic Testing in Cancer (486 KB)
  Agency for Healthcare Quality Research (January 9, 2006)
• Genetic testing for susceptibility to breast and ovarian cancer: Evaluating the impact of a direct-to-consumer marketing campaign on physicians’ knowledge and practices (2006)
  Melanie F. Myers, et al. Genetics in Medicine;8(6):361-370.
  • Related article: Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing --- Atlanta, Denver, Raleigh-Durham, and Seattle, 2003
    MMWR; 53(27);603-606 (July, 2004)
• From Genetics to Genomics: Using Gene-Based Medicine to Prevent Disease and Promote Health in Children (2005)
  C. Moore, M. Khoury, and L. Bradley
• International Genetic Testing (2003)
• Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes (2003)
• Using Decision Analytic Methods to Assess the Utility of Family History Tools (2003)
• Genetic Test Evaluation: Information Needs of Clinicians, Policy-Makers and the Public (2002)
• Helping High-Risk Families: Medical and Public Health Approaches (2002)
• Medical Genetic Test Reporting for Cystic Fibrosis (DeltaF508) and Factor V Leiden in North American Laboratories
  HC Andersson et al. Genetics in Medicine;4(5):324-327, (2002)
• Public Health Impact of Genetic Tests at the End of the 20th Century
  Paula W. Yoon, Genet Med 2001 November/December;3(6):405-410
• Public Health Impact of Genetic Tests at the End of the 20th Century (2001)
• Assisting States in Assessing Newborn Screening Options
  Scott Grosse, PhD, Marta Gwinn, MD, MPH, Public Health Reports (2001)
• On the Use of Population-based Registries in the Clinical Validation of Genetic Tests for Disease Susceptibility
  Quanhe Yang PhD, et al. Genetics in Medicine;2(3):186-192, (2000)
• Quality Assurance in Molecular Genetic Testing Laboratories
  M. M. McGovern, et al,
  JAMA vol. 281 No. 9, (March 3, 1999)
• Newborn Screening for Cystic Fibrosis: A Paradigm for Public Health Genetics Policy Development
  MMWR report (December 12, 1997)
• Laboratory Practice Evaluation and Genomics Branch, Division of Laboratory Systems  (last accessed 2/2008)

Clinical Genetic Testing

• GeneTest Clinical Directory
  International directory of genetics and prenatal diagnosis clinics

Genetic Testing: General Information

• Department of Energy (DOE) Genetic Testing Website
• Frequently asked questions about Genetic Testing
  From the GeneTest Website
• Understanding Gene Testing
  A tutorial that illustrates what genes are, how mutations occur, and the benefits and limitations of gene testing for cancer and other disorders. From the National Cancer Institute.
• Human Gene Testing from the National Academy of Sciences
  A summary of human genetic testing from the unraveling of the nature of the gene to the social dilemmas genetic testing poses.

Genetic Counseling

• What is a Genetics Consultation?
• National Society of Genetic Counselors
• Coalition of State Genetic Coordinators
• Foundation for Blood Research Chances' Choices
  A curriculum unit designed to demonstrate the practical applications of human genetics.

Genetic Testing Policy, Guidelines and Consensus Documents

• Clinical Effectiveness and Cost-Effectiveness of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: A Systematic Review
  A Pandor, et al., UK Health Technology Assessment (March 2004)
• Standards and Guidelines for Clinical Genetics Laboratories (last accessed 2/2008) (2003)
• List of the American College of Medical Genetics (ACMG) Policy Statements and Guidelines   (last accessed 2/2008) (1995-2002)
• List of Policy Statements from the American Society of Human Genetics
• Secretary's Advisory Committee on Genetic Testing: Recommendations for the Oversight of Genetic Test  (2001)
• Recommendations for the use of tumor markers in breast cancer and colorectal cancer from the American Society of Clinical Oncology  (2000)
• Promoting Safe and Effective Genetic Testing in the United States
  Final Report of the ELSI Task Force on Genetic Testing (1997)
• NIH Consensus Statement on Genetic Testing for Cystic Fibrosis (1997)
• Genetics and Public Policy Center
  An independent and objective source of credible information on genetic technologies and genetic policies for the public, media and policymaker from Berman Bioethics Institute, Johns Hopkins University.

Genomic Profiling

• Genomic Profiling to Promote a Healthy Lifestyle: Not Ready for Prime Time-Commentary by Haga, Khoury and Burke
• Over the Counter Genetic Tests and Nutrition: What We Know Today
  Fact Sheet from the Minnesota Chronic Disease Genomics Project (2005) 

Publications

• BRCA Mutation Testing for Breast and Ovarian Cancer: Genetic Risk Assessment: Evidence Synthesis (3.61 MB)
  Agency for HealthCare Quality Research (September, 2005)
• Clinical Effectiveness and Cost-Effectiveness of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: A Systematic review (last accessed 2/2008)
  HTA Technology Assessment Report
  A Pandor et al. Health Technology Assessment 2004; Vol.8:No.12.
• ACCE Reviews of Genetic Tests: BRCA1, BRCA2, and CFTR
  CDC's Genomics and Population Health 2005 Report
• Public Health Assessment of BRCA1 and BRCA2 Testing for Breast and Ovarian Cancer
  Genomics and Population Health: United States 2003 Report
• Newborn screening for MCAD Deficiency
  Genomics and Population Health: United States 2003 Report
• Genetic Testing and the Prevention of Coronary Heart Disease: A Case Study
  Genomics and Population Health: United States 2003 Report
• Newborn Screening for Cystic Fibrosis: A Public Health Response
   CDC's Genomics and Population Health 2005 Report
• Carrier Testing for Cystic Fibrosis: Transition from Research to Clinical Practice
  Genomics and Population Health: United States 2003 Report
• Ensuring the Quality of Genetic Testing in the United States
  Genomics and Population Health: United States 2003 Report
• Physicians' Perceived Usefulness of and Satisfaction with Test Reports for Cystic Fibrosis (ΔF508) and Factor V Leiden
  Marie Krousel-Wood, Genetics in Medicine 2003; 5(3):166-171.
• Practical Clinical Trials: Increasing the Value of Clinical Research for Decision Making in Clinical and Health Policy
  S. Tunis et al. JAMA 2003; 290(12):1624-1632.
• Managed Care in the Genomics Era: Assessing the Cost Effectiveness of Genetic Tests
  M. Higashi and D. Veenstra. The American Journal of Managed Care 2003; 9(7):493-500.
• Genetic Testing
  Wylie Burke, M.D., Ph.D.
  New England Journal Medicine,  2002 Dec;347(23):1867-75.
• Appraising Organized Screening Programs for Testing for Genetic Susceptibility to Cancer
  Vivek Goel , Brit Med J (2001).
• Canadian Provincial Advisory Committee
  A Report on the New Predictive Genetic Technologies (2001).
• Ethical Issues in Genetic Testing of Children
  LF Ross and MR Moon. Arch Pediatr Adolesc Med, Sept 2000; 154: 873-879.
• Genetic Testing of Adolescents: Is It in Their Best Interest? LF Ross, BS Elger and TW Harding. Arch Pediatr Adolesc Med, Aug 2000; 154: 850-a - 851.

Related Links

• American College of Medical Genetics (last accessed 2/2008)
• GeneTestGeneClinics

Provides link to non-governmental sites and does not necessarily represent  the views of the Centers for Disease Control and Prevention.