1. Genetic Screening and Genetic Testing Risks and Benefits of Knowing Your Genetic Makeup Julie Hopp Genetic Screening: Who Should Be Tested CDC’s 2004 Science Ambassador Program

2. Overview I.Genetics Review II.Types of Genetic Disorders III. Genetic Screening A. Purpose B. Abnormalities C. Types D. Benefits and Risks

3. Review A human has 46 chromosomes Genes are found on chromosomes Alleles are alternate forms of genes Alleles are either dominant, recessive, or codominant

4. Types of Genetic Disorders Chromosomal Ex. Down Syndrome, Turner Syndrome Single Gene Ex. Sickle Cell Anemia, Cystic Fibrosis Complex Ex. Birth defects, most cancers

5. Genetic Screening Purpose - to detect Chromosomal Abnormalities DNA changes Protein/biochemical changes

6. Types of Genetic Screening Types Newborn screening Prenatal diagnosis Carrier testing

7. Benefits of Genetic Screening Diagnosis Reduce testing Appropriate intervention (prevention, management, treatment) Informed decisions Reproductive choices

8. Risks of Genetic Screening Risk of miscarriage Psychological impact Family relations Insurance issues/concerns Privacy

9. Summary of Genetic Screening Detection of chromosomal, DNA, or protein changes which can cause or predispose to disease. It can be beneficial by limiting testing, allow informed decisions and can lead to appropriate intervention. There is also a risk of losing privacy, impacting a person psychologically, impacting family relations, and possible insurance issues.

10. Bibliography Centers for Disease Control and Prevention. Centers for Disease Control and Prevention. [cited 2004, July 21]. Available at URL: http://www.cdc.gov/. Genetic Screening for Birth Defects Patient Fact Sheet. American Society for Reproductive Medicine. Birmingham: 1998. March of Dimes Birth Defects Foundation. March of Dimes. 2004. [cited 2004, July 21]. Available at URL: www.modimes.org. National Cancer Institute. Understanding Gene Testing. 2003. [cited 2004, July 21]. Available at URL: http://press2.nci.nih.gov/sciencebehind/genetesting/genete sting00.htm. Understanding Gene Testing. US Department of Health and Human Services.