Genetic Testing
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Transcript of Genetic Testing
Genetic Testing
What is Genetic Testing?
• Looks at– Chromosomes– Genes– Proteins
• Inherited disorders • Definite? Probable? Possible?
Predictive Testing• Who?
– Anyone -- any stage of life
• What?– 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
Newborn Screening
• Who?– 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
– http://www.slh.wisc.edu/newborn/
Carrier Testing• Who?
– 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.
Prenatal Testing• Who?
– 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
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.
– GATTACA