Genetic testing
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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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Genetic testing

Genetic Testing


What is genetic testing

What is Genetic Testing?

  • Looks at

    • Chromosomes

    • Genes

    • Proteins

  • Inherited disorders

  • Definite? Probable? Possible?


Predictive testing

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

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

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

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

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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