What is genetic testing? A type of medical test that identifies changes in the DNA. Tests can target gene mutations or variations of single nucleotides and can be used in diagnostic to find changes associated with inherited disorders or as a prevention to assess the risk in developing a certain disease. The results of the test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.
What are the types of genetic tests? Genetic testing can provide information about a person’s genes and chromosomes. Available types of testing include:
· Newborn screening – used just after birth to identify genetic disorders that can be treated early in life.
· Diagnostic testing – used to identify or rule out a specific genetic or chromosomal condition.
· Prevention testing – offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions.
· Prenatal testing – used to detect changes in a foetus’s genes or chromosomes before birth. It is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder.
· Preimplantation testing – preimplantation genetic diagnosis (PGD), used to detect genetic changes in embryos created using assisted reproductive techniques.
· Predictive and presymptomatic testing – used to detect gene mutations associated with disorders that appear later in life. Can be helpful to people with a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person’s risk of developing disorders with a genetic basis, such as certain types of cancer.
· Forensic testing – uses DNA sequences to identify an individual for legal purposes.
How is genetic testing done? Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a foetus during pregnancy), or other tissue. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a person’s doctor or genetic counsellor.
What do the results of genetic tests mean? The results of genetic tests are not always straightforward, therefore it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder.
What is the cost of genetic testing, and how long does it take to get the results? It can range from under $200 to more than $2000 (US Dollars), depending on the nature and complexity of the test. From the date that a sample is taken, it may take a few weeks to a few months to receive the test results. The doctor or genetic counsellor who orders a particular test can provide specific information about the cost and time frame associated with that test.
Will health insurance cover the costs of genetic testing? In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a person’s doctor. Health insurance providers have different policies about which tests are covered. A person interested in submitting the costs of testing may wish to contact his or her insurance company beforehand to ask about coverage.
What are the benefits of genetic testing? Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. A negative result can eliminate the need for unnecessary checkups and screening tests in some cases; a positive result can direct a person toward available prevention, monitoring, and treatment options.
What are the risks and limitations of genetic testing? The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear. Most of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. Genetic testing can provide only limited information about an inherited condition. The test often can’t determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed. A genetics professional can explain in detail the benefits, risks, and limitations of a particular test.
What is genetic discrimination? There is no risk of genetic discrimination when people undergo genetic testing by their employer or insurance company due to the G.I.N.A.
How does genetic testing in a research setting differ from clinical genetic testing? The main differences are the purpose of the test and who receives the results. The goals of research testing include finding unknown genes, learning how genes work, and advancing our understanding of genetic conditions. The results of these testing are usually not available to patients or their healthcare providers. Clinical testing is done to find out about an inherited disorder in an individual patient or family. People receive the results of their tests and can use them to make decisions about medical care or reproductive issues. Clinical and research testing must both involve a process of informed consent in which patients learn about the testing procedure, the risks and benefits of the test, and the potential consequences of testing.
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