Genetic Testing

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

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

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 http://www.slh.wisc.edu/newborn/

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.

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

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