1. Genetic Testing

2. What is Genetic Testing?
Looks at
Chromosomes
Genes
Proteins
Inherited disorders
Definite? Probable? Possible?

3. Predictive Testing Who? What? Anyone -- any stage of life
Used to detect gene mutations associated with disorders that appear after birth, often later in life.
Definite -- Huntington’s Disease
Possible -- breast cancer, colon cancer
Can be helpful to people who have a family member with a genetic disorder
- Can also CONFIRM a diagnosis

4. Newborn Screening Who? What? Newborns (within 1 week of birth)
In WI, it is the law (screens for 48 disorders)
What?
Identify genetic disorders that can be treated early in life.
Blood test -- screens for metabolic and genetic abnormalities
Any abnormal results require a rescreen and further follow-up tests

5. Carrier Testing Who? What? Parents:
Families with a history of recessive genetic disorders (ex. cystic fibrosis, tay-sachs, sickle cell anemia)
From certain ethnic groups with an increased risk of specific genetic conditions.
What?
Identifies people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder.
If both parents are tested, the test can provide information about a couple’s risk of having a child with a genetic condition.

6. Prenatal Testing Who? What?
Offered during pregnancy if increased risk of genetic or chromosomal disorder
DNA is taken from the fetus
What?
Detects changes in a fetus’s genes or chromosomes before birth (ex. Down’s syndrome)
Can lessen a couple’s uncertainty or help them make decisions about a pregnancy.
Cannot identify all possible inherited disorders and birth defects

7. Preimplantation Genetic Diagnosis (PGD)
Who?
Embryos
What?
IVF -- test for genetic changes in embryo before implantation
Can reduce the risk of having a child with a particular genetic or chromosomal disorder.
In some ways, with PGD you can choose the traits of your kids.
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