1. Genetic Testing

2. What is Genetic Testing? Analysis of human DNA, chromosomes and/or proteins Analysis of human DNA, chromosomes and/or proteins Used to: Used to: Detect inherited diseases Detect inherited diseases Determine a person’s ancestry Determine a person’s ancestry

3. What to Test Sequence Analysis Sequence Analysis Nucleotide sequence of entire gene is determined Nucleotide sequence of entire gene is determined Order of the bases Order of the bases Mutation Analysis Mutation Analysis Used to test for specific gene mutations Used to test for specific gene mutations Changes to the bases Changes to the bases Analyte Analysis Analyte Analysis Used to test for presence or absence of proteins Used to test for presence or absence of proteins Deletion/duplication Analysis Deletion/duplication Analysis Used to detect deletions or duplications of between 40 - 10,000 base pairs in DNA Used to detect deletions or duplications of between 40 - 10,000 base pairs in DNA www.genetests.com Cystic Fibrosis Genetic Tests

4. When is Genetic Testing Done? Anytime throughout a person’s life Anytime throughout a person’s life Done when: Done when: There is a family history There is a family history A person shows symptoms A person shows symptoms Concern about passing on a genetic disorder Concern about passing on a genetic disorder

5. When is Genetic Testing Done? 1. Preimplantation Screening Performed on early embryo prior to implantation in uterus Performed on early embryo prior to implantation in uterus 2. Prenatal Diagnosis Before birth; fetus Before birth; fetus AFP, CVS, Amniocentesis AFP, CVS, Amniocentesis Most common – Down’s syndrome Most common – Down’s syndrome 3. Newborn Screening Test newborn while in hospital Test newborn while in hospital Preventative measure Preventative measure Wisconsin - 47 test for genetic disorders Wisconsin - 47 test for genetic disorders

6. When is Genetic Testing Done? 4. Carrier Identification If family history of recessive genetic disorder If family history of recessive genetic disorder Before a couple decides to have children Before a couple decides to have children 5. Diagnostic Testing If a person shows symptoms If a person shows symptoms Diagnose or rule out a disorder in a person showing symptoms Diagnose or rule out a disorder in a person showing symptoms

7. When is Genetic Testing Done 6. Predictive Testing Detect gene mutations that are associated with disorders that appear later in life Detect gene mutations that are associated with disorders that appear later in life Examples: Breast Cancer Examples: Breast Cancer Huntington’s Disease Huntington’s Disease http://www.pbs.org/wgbh/nova/genome/program.html

8. Ethical, Legal, and Social Issues Privacy Privacy Who has the right to know? Who has the right to know? Informed Consent Informed Consent Permission must be given. Permission must be given. Psychological Impact Psychological Impact Emotional issues Emotional issues http://www.pbs.org/wgbh/nova/genome/program.html