Understanding Genetic Testing in Healthcare
Introduction to Gene, Chromosomal and Biochemical Tests
Apr 11, 2009
Testing is used to diagnose, or determine the likelihood of, genetic-related health problems. For example, a pregnant woman may undergo a prenatal test to determine if her unborn child will likely develop a disorder. People usually have a genetic consultation to provide support and information, which sometimes includes guidance on testing.
Gene, Chromosomal and Biochemical Tests
Genetic testing usually requires a blood or tissue sample. It is split into three groups:
- Gene tests. These tests look at DNA for potential problems, such as missing or overly active genes.
- Chromosomal tests. These tests look for problems with the number and structures of chromosomes.
- Biochemical tests. These tests look at the actions of certain proteins, which in turn can detect problems with genes.
Types of Genetic Testing Available
- Diagnostic – these tests are carried out when there is reason to believe someone already has (or is at risk to) a health problem.
- Predictive and pre-symptomatic – these tests determine whether or not someone is at increased risk of developing a health problem.
- Carrier – these tests show if a person is carrying genes for a health problem that, while not affecting themselves, could be passed on to their offspring.
- Pre-implantation – these tests are carried out on embryos to check for potential fetal problems.
- Prenatal – these tests are carried out on some pregnant women to determine genetic-health issues in a fetus.
- Newborn – these tests are carried out on newborn babies to determine any genetic health issues.
- Pharmacogenetic – these tests determine the influences on drug interventions on the genomes of individuals.
- Research – where testing is used to forward research in the field of genetics.
Genetic testing is not always health-related, for example, DNA testing is used in exploring ancestry. Sometimes genetic testing is carried out direct-to-consumer, where the individual takes a sample themselves and sends it back to the service, usually without intervention from a healthcare worker.
For information on genetic counselling, including possible reasons for seeking such services, read Understanding Genetic Consultation. Read the FAQ about Genetic Testing on the National Human Genome Research Institute’s website, which includes details on the different tests available.
Sources
Genetic Testing: How it is Used for Healthcare, National Institutes of Health website, accessed: 11th April 2009, no author specified.
Frequently Asked Questions about Genetic Testing, National Human Genome Research Institute website, accessed: 11th April 2009, no author specified.
What is Genetic Testing?, Lawrence Berkeley National Laboratory website, accessed: 11th April 2009, no author specified.
Genetic Testing and Screening, Genetic Futures News website, accessed: 11th April 2009, no author specified.
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