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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?

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Genetic Testing

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  1. Genetic Testing

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

  3. 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

  4. 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/

  5. 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.

  6. 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

  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. • GATTACA

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