Genetic testing

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Introduction

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 physician diagnose disease. There are a number of different reasons genetic tests are performed. These include the following:

  1. clinical genetic testing (diagnosing current or future disease)
  2. pharmacogenomics (assessment of therapeutic drug treatment)
  3. identity testing for criminal investigations or forensics studies (sometimes referred to as DNA testing or DNA fingerprinting)
  4. parentage testing (formerly called paternity testing)
  5. tissue typing for transplantation
  6. cytogenetics (chromosome analysis), and
  7. infectious disease testing.

This article will briefly discuss each of these tests but will focus on the medical aspects of genetic testing. However, it is helpful to first understand the basics of human genetics before any discussion of genetic testing can take place.

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