Genetic testing analyzes cells for changes in the genes, chromosomes, or proteins of individuals and can be used for a number of purposes: to determine the genetic parents of a child; to determine a person’s ancestry or biological relationship; and to discover the possible presence of genetic diseases or mutant forms of genes that can increase the risk of developing genetic disorders. So how does genetic testing work, who can benefit from genetic testing, and what are current trends in genetic testing?
The Process of Genetic Testing
Genetic tests are used to find changes that have occurred in chromosomes, genes, or proteins. The results of genetic testing can confirm or rule out suspected genetic disorders and help determine the risk factor for developing or passing them on. According to the U.S. National Library of Medicine, there are more than 1,000 genetic tests in use now, with more in development. These tests use the following types of genetic testing:
- Molecular genetic tests study single genes or short strands of DNA to identify mutations that might cause a genetic disorder.
- Biochemical genetic tests examine the activity level or amount of proteins. Deviations from the norm might show DNA changes brought on by a genetic disorder.
- Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to look for large genetic changes, for example, an extra copy of a chromosome, that can cause a genetic disorder.
Genetic testing is provided by companies such as Progenity, which was founded by Dr. Harry Stylli with more than three decades of success in healthcare research. These tests take a tissue sample from a subject’s body, generally from the hair, blood, or skin. The sample goes to a lab where technicians search for distinct changes in the chromosomes, genes, or proteins, depending on the disorder suspected.
How to Know if a Genetic Test is Right For You
A genetic test is useful only if it produces an accurate result. The following questions should be asked by anyone considering being testing:
- Can the test accurately detect the presence or absence of a genetic variant?
- How closely is the genetic variant under analysis related to the presence, absence, or risk of a specific disorder?
- Can the test provide information about the diagnosis, treatment, management, or prevention of the disorder that will be beneficial to the patient?
Trends in Genetic Testing
Approximately 75,000 genetic tests were available in 2017, up from 14,000 tests in 2014. This trend is expected to continue through 2024, with molecular testing expected to exhibit the fastest growth rate, with tests for diseases such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
Direct-to-consumer testing, which generally requires the consumer to send a specimen such as saliva or urine to a company for test and analysis, is quickly expanding the number of people who can benefit from the service. Because not all testing companies test for the variants, different results can occur for the same disorders. Thus, it’s important to do the research before ordering any tests that bypass your health care provider.
Genetic testing offers the benefit of knowing whether a gene mutant exists. Negative test results can provide relief from constant worry and anxiety. Positive results can reveal the necessary actions to take.