There are many different kinds of genetic and genomic tests. And, contrary to popular belief, newer tests and technologies, rather than taking over from old ones, have generally added to the testing options for clinicians and scientists.
- Diagnostic testing: Diagnostic tests are usually ordered when a clinician has reason to think – because a patient has relevant symptoms, known as the ‘clinical presentation’ – that the patient may have a particular genetic condition. Testing will look at a specific gene variant or allele, or alternatively at a small panel of genes known to be associated with the condition.
- Clinical predictive testing: Predictive tests are carried out to determine whether or not someone is susceptible to a particular condition before they are displaying any symptoms. The predictive power of such tests can vary depending on the penetrance and expressivity of the gene in question.
- Pharmacogenomics testing: Pharmacogenomics is the study of the genomic determinants of drug response, and testing allows clinicians to obtain information about how an individual’s genome affects their response to medication.
- Tumor testing: Sequencing the DNA of a cancerous tumor can identify gene mutations present in the tumor cells that are either actionable – meaning targeted treatment can be offered – or warrant further study.
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