Current Trends in Genetic Testing

July 15, 2005 at 4:00 pm  •  Posted in Family Genetics by  •  0 Comments

Uses of Genetic Testing
Benefits of Genetic Research
Limitations of Genetic Testing
Psychological and Policy Issues of Genetic Testing
Genetic Consultation Services



Genetic testing is a type of medical test that is used to detect changes or abnormalities in chromosomes or genes related to inherited diseases. More than 900 genetic tests are now available through diagnostic laboratories. The tests have the potential to offer valuable health information, but they can also introduce ethical dilemmas.

Uses of Genetic Testing
  • Confirm a suspected diagnosis of disease.
  • Predict a susceptibility to inherited diseases long before symptoms appear; currently used primarily with individuals who have a strong family history of the disease such as breast, ovarian cancer, or Huntington’s Chorea.
  • Determine the carrier status for cystic fibrosis, Tay-Sachs, and other inherited diseases that adults may pass on to their children.
  • Predict responses to medication therapy.
  • Determine if a fetus is at an increased risk of genetic disorders or physical deformities.
Benefits of Genetic Research
  • Improved diagnosis of diseases and earlier detection.
  • More accurate prognosis of diseases that are likely to spread quickly.
  • Customized medications for a person’s specific genetic profile.
Limitations of Genetic Testing
  • Tests portray a risk or probability of contracting a particular disease.
  • Tests may not detect every disease-causing gene mutation in a person’s DNA.
  • A negative result does not mean that the disease will not develop at some point in the future.
  • Genes are only one factor in disease development. In some disease, environmental factors can also be contributing factor.
Psychological and Policy Issues of Genetic Testing
  • A false positive test will result in unnecessary worry and concern about health issues.
  • Tests provide information about relatives in addition to the person testing and therefore, test results may provide knowledge about potential diseases that other family members would prefer not to know.
  • People have been denied health insurance, lost jobs, and even been turned down for adoption due to the results of genetic tests. The consequences of disclosure are complex and should be considered carefully.
  • Testing can be expensive and may not be covered under health insurance policies.
Genetic Consultation Services
  • Assist an individual or family to decide whether to proceed with genetic testing.
  • Confirm, diagnose, or rule out a genetic disorder.
  • Identify issues related to health management.
  • Discuss genetic risks.
  • Support family members and provide referrals to support groups and local service agencies.



  • Access Excellence Resource Center
  • Mayo Clinic
  • National Cancer Institute
  • National Institutes of Health
  • Nemours Foundation

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