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Genetic Testing
What is Genetic Testing?


Analysis of human DNA, chromosomes and/or
proteins
Used to:
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Detect inherited diseases
Determine a person’s ancestry
What to Test
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Sequence Analysis
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Nucleotide sequence of entire gene is determined
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Mutation Analysis
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Used to test for specific gene mutations
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Changes to the bases
Analyte Analysis
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Order of the bases
Used to test for presence or absence of proteins
Deletion/duplication Analysis
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Used to detect deletions or duplications of between 40 - 10,000
base pairs inCystic
DNA
Fibrosis Genetic Tests
www.genetests.com
When is Genetic Testing Done?
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Anytime throughout a person’s life
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Done when:
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There is a family history
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A person shows symptoms
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Concern about passing on a genetic
disorder
When is Genetic Testing Done?
1. Preimplantation Screening
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Performed on early embryo prior to implantation in
uterus
2. Prenatal Diagnosis
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Before birth; fetus
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AFP, CVS, Amniocentesis
Most common – Down’s syndrome
3. Newborn Screening
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Test newborn while in hospital
Preventative measure
Wisconsin - 47 test for genetic disorders
When is Genetic Testing Done?
Carrier Identification
4.
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If family history of recessive
genetic disorder
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Before a couple decides to have
children
5. Diagnostic Testing
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If a person shows symptoms
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Diagnose or rule out a disorder in a
person showing symptoms
When is Genetic Testing Done
Predictive Testing
6.
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Detect gene mutations that are associated with
disorders that appear later in life
Examples: Breast Cancer
Huntington’s Disease
http://www.pbs.org/wgbh/nova/genome/program.html
Ethical, Legal, and Social Issues
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Privacy
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Informed Consent
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Who has the right to know?
Permission must be given.
Psychological Impact
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Emotional issues
http://www.pbs.org/wgbh/nova/genome/program.html