Genetic Testing What is Genetic Testing Looks at

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Genetic Testing

Genetic Testing

What is Genetic Testing? • Looks at – Chromosomes – Genes – Proteins •

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

Predictive Testing • Who? – Anyone -- any stage of life • What? –

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,

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

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

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

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