Genetic TestingGenetic Testing

What is Genetic Testing?What is Genetic Testing? Analysis of human DNA, chromosomes Analysis of human DNA, chromosomes

and/or proteinsand/or proteins

Used to:Used to: Detect Detect inherited diseasesinherited diseases Determine Determine a person’s ancestrya person’s ancestry

What to TestWhat to Test Sequence AnalysisSequence Analysis

Nucleotide sequence of Nucleotide sequence of entire geneentire gene is determined is determined Order of the basesOrder of the bases

Mutation AnalysisMutation Analysis Used to test for Used to test for specific gene mutationsspecific gene mutations

Changes to the basesChanges to the bases

Analyte AnalysisAnalyte Analysis Used to test for Used to test for presence or absence of proteinspresence or absence of proteins

Deletion/duplication AnalysisDeletion/duplication Analysis Used to detect deletions or duplications of between 40 - Used to detect deletions or duplications of between 40 -

10,000 base pairs in DNA10,000 base pairs in DNAwww.genetests.comwww.genetests.com

Cystic Fibrosis Genetic Tests

When is Genetic Testing When is Genetic Testing Done?Done?

AnytimeAnytime throughout a person’s throughout a person’s lifelife

Done when:Done when: There is a There is a family historyfamily history

A person A person shows symptomsshows symptoms

Concern about Concern about passing onpassing on a genetic a genetic disorderdisorder

When is Genetic Testing When is Genetic Testing Done?Done?

1. 1. Preimplantation ScreeningPreimplantation Screening Performed on early Performed on early embryoembryo prior to prior to

implantation in uterusimplantation in uterus

2.2. Prenatal Diagnosis Prenatal Diagnosis Before birth; Before birth; fetusfetus

AFP, CVS, AmniocentesisAFP, CVS, Amniocentesis Most common – Down’s syndromeMost common – Down’s syndrome

3.3. Newborn Screening Newborn Screening Test Test newbornnewborn while in hospital while in hospital Preventative measurePreventative measure Wisconsin - 47 test for genetic disordersWisconsin - 47 test for genetic disorders

When is Genetic Testing When is Genetic Testing Done?Done?

4.4. Carrier IdentificationCarrier Identification If family history of recessive If family history of recessive

genetic disordergenetic disorder Before a couple decides to have Before a couple decides to have

childrenchildren

5.5. Diagnostic Testing Diagnostic Testing If a person shows symptomsIf a person shows symptoms

Diagnose or rule out a disorder in Diagnose or rule out a disorder in a person showing symptomsa person showing symptoms

When is Genetic Testing When is Genetic Testing DoneDone

6.6. Predictive TestingPredictive Testing Detect gene mutations that are associated Detect gene mutations that are associated

with disorders that appear later in lifewith disorders that appear later in life

Examples:Examples: Breast Cancer Breast Cancer

Huntington’s DiseaseHuntington’s Disease

http://http://www.pbs.org/wgbh/nova/genome/program.htmlwww.pbs.org/wgbh/nova/genome/program.html

Ethical, Legal, and Social Ethical, Legal, and Social IssuesIssues

PrivacyPrivacy Who has the Who has the right to knowright to know??

Informed ConsentInformed Consent PermissionPermission must be given. must be given.

Psychological ImpactPsychological Impact Emotional issuesEmotional issues

http://www.pbs.org/wgbh/nova/genome/program.html