What is Genetic Testing

Known as DNA testing, genetic testing identifies any changes in chromosome structure or DNA sequence. The results of genetic testing may serve as a tool for diagnosing or ruling out genetic disorders, predicting risks for specific conditions, or tailoring medical treatment to an individual’s genetic profile.

Physicians have access to thousands of genetic tests to assist in diagnosing and treating a variety of diseases. It can be done for many reasons, including:

  • A comprehensive diagnosis of a symptomatic individual
  • Presymptomatic testing for determining disease risk
  • Presymptomatic testing for diagnosing a disease that will manifest later
  • Prenatal screening and diagnosis
  • Newborn screening
  • Preimplantation genetic diagnosis
  • Carrier screening
  • Forensic testing
  • Paternal testing

What the genetic test examines is changes in:

  • Genes: Examining DNA sequences for variations/mutations in genes that may cause or raise the likelihood of a genetic disorder. Gene testing can involve analyzing a single DNA building block (nucleotide), one or more genes, or the entire genome of a person.
  • Chromosomes: Identifying major genetic changes, such as an extra copy of a chromosome that causes a genetic disorder, through analyzing entire chromosomes or extensive sections of DNA.
  • Proteins: Known as biochemical genetic tests that examine the number or activity level of proteins or enzymes, as abnormalities in either can signal a change in the DNA, resulting in a genetic disorder.

Although genetic testing can help with disease diagnosis, treatment, and prevention, it has some limits. For example, if you are healthy, a positive genetic test result does not automatically imply that you will develop an illness. However, in other cases, a negative result does not indicate that you will not develop a specific condition.

It is voluntary to undergo genetic testing, as it is a personal and complex decision. In order to make the most of the results of genetic testing, you should speak to your doctor, medical geneticist, or genetic counselor.

References:

https://en.wikipedia.org/wiki/Genetic_testing#cite_note-:02-1

https://www.ama-assn.org/delivering-care/precision-medicine/genetic-testing

https://medlineplus.gov/genetics/understanding/testing/genetictesting…