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Clinical Applications of Genetic Tests

Learn about diagnostic, predictive, carrier, and prenatal genetic testing, their uses, and implications. Explore how genetic tests detect disorders and guide medical decisions. Get insights on interpreting results and key considerations. References for further information included.

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Clinical Applications of Genetic Tests

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  1. Clinical Applications of Genetic Tests Mikenzie Lewis

  2. Types of Genetic Tests • Diagnostic- establishes the basis of an existing disorder • Predictive- determines the presence of genetic condition when there are no obvious symptoms • Carrier- identifies heterozygotes • Prenatal- assesses a fetus for abnormalities

  3. Diagnostic Testing • Based on physical signs and symptoms • Can be performed on any age • Not available for all genes or genetic conditions

  4. Predictive Testing • Helpful to those who have family history of a disorder but show no features of the disorder at time of testing • Used often to detect cancers

  5. Carrier Testing • Identifies heterozygotes for X-linked and autosomal recessive disorders that occur with high frequencies in certain populations • Knowledge of carrier status gives couples the opportunity to make reproductive choices

  6. Prenatal Testing • Performed during pregnancy to determine whether there is a significant risk of having a child with a serious disorder • Counseling should precede a prenatal test

  7. Detected by Prenatal Testing Accomplished with amniocentesis- an invasive procedure that involves taking amniotic from the mother and identifying fetal cells Can also be detected with ultrasound Down Syndrome

  8. Test Results • Can be difficult to interpret and explain • Medical history, family history, and type of genetic test are important • Positive Result= change found in a particular gene, chromosome, or protein • Negative Result= no change found

  9. References • http://www.dsamn.org/photogallery/photoAlbums/BuddyWalk2004/full/DSC03981.jpg • Pasternak, Jack J.An Introduction to Human Molecular Genetics, 2nd Edition. Hoboken, New Jersey: John Wiley & Sons, 2005, 526-528. • www.wikipedia.com

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