This article discusses genetic testing; that is, testing that looks at a person’s genetic makeup for a variety of reasons. An increasing number of genetic tests are becoming available as a result of recent and rapid advances in biomedical research. It has been said that genetic testing may revolutionise the way many diseases are diagnosed but genetic testing does not just help a doctor diagnose disease. There are a number of different reasons genetic tests are performed. These include the following:
1. clinical genetic testing for diagnosing current or future disease
2. pharmacogenomics for the assessment of therapeutic drug treatment
3. identity testing for criminal investigations or forensic studies (sometimes referred to as “DNA fingerprinting”)
4. paternity testing (now sometimes called parentage testing)
5. tissue typing for transplantation
This article will briefly discuss each of these tests but will focus more on the medical aspects of genetic testing. It is helpful to first understand the basics of human genetics before looking at genetic testing itself.