Types of Genetic Tests
by Dr. Hsien-Hsien Lei
Posted March 4, 2008 in DNA Testing
According to the LA Times, there are only five types of genetic tests:
- Predictive testing for genetic mutations that can increase a person’s risk of disease, e.g., BRCA genetic testing for breast and ovarian cancer
- Presymptomatic testing to see if someone will develop a disease before they get any signs or symptoms, e.g., Huntington’s disease
- Diagnostic testing to confirm a diagnosis, e.g., Fragile X Syndrome
- Carrier testing to detect people who are disease-free but may have a genetic mutation that can be inherited by their children
- Prenatal testing of fetuses to detect genetic abnormalities
Hello? I thought I was the one with the fried brain (thanks to the flu). Medical genetic testing isn’t all there is. There are a slew of other types of human genetic tests that are currently available:
- Genetic genealogy, ancestry, and ethnicity DNA testing
- Paternity and family relationship DNA testing
- Genome scans (SNP-based)
- Genome sequencing
- Newborn screening
- Nutrigenomic testing
- Preimplanation genetic diagnosis (PGD)
- Drug response testing (pharmacogenomics)
- Forensic DNA testing
Have I forgotten any?

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Isn’t the LA Times the equivalent of the UK’s Daily Mail in terms of scientific rigour?
db
Not that I’m aware of. However, I’ve never read Daily Mail so I wouldn’t be able to compare….
You’re sick too? Most be something “catching” — thanks as always for a post that sets the record straight!
I was under the impression that most newborn screening tests are not ‘genetic tests’, but were based on detecting various proteins using mass spec
BP, You make a good point which is true for most common newborn screening tests. However, because newborn screening results act as a proxy for genetic status, they are often known as genetic tests.