Clinical Applications of Genetic Tests

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Clinical Applications of Genetic Tests

• Mikenzie Lewis

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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

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Diagnostic Testing

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

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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

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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

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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

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Down Syndrome

• 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

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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

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References

• http//www.dsamn.org/photogallery/photoAlbums/Budd
  yWalk2004/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