Genetic Screening and Genetic Testing

Risks and Benefits of Knowing Your Genetic Makeup

Julie HoppGenetic Screening: Who Should Be TestedCDC’s 2004 Science Ambassador Program

Overview

I. Genetics ReviewII. Types of Genetic DisordersIII. Genetic Screening

A. PurposeB. AbnormalitiesC. TypesD. Benefits and Risks

Review

A human has 46 chromosomes

Genes are found on chromosomes

Alleles are alternate forms of genes

Alleles are either dominant, recessive, or codominant

Types of Genetic Disorders

ChromosomalEx. Down Syndrome, Turner Syndrome

Single GeneEx. Sickle Cell Anemia, Cystic Fibrosis

ComplexEx. Birth defects, most cancers

Genetic Screening

Purpose - to detect

Chromosomal Abnormalities DNA changes Protein/biochemical changes

Types of Genetic Screening

Types

Newborn screening Prenatal diagnosis Carrier testing

Benefits of Genetic Screening

DiagnosisReduce testing Appropriate intervention (prevention, management, treatment)Informed decisionsReproductive choices

Risks of Genetic Screening

Risk of miscarriagePsychological impactFamily relationsInsurance issues/concernsPrivacy

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.

BibliographyCenters 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/genetesting00.htm.

Understanding Gene Testing. US Department of Health and Human Services.