The results of a genetic test can confirm or rule out a possible genetic condition or help determine the chances of a person developing or transmitting a genetic disorder. Currently, more than 77,000 genetic tests are available and new ones are being developed. Newborn screening tests are done right after birth to identify genetic disorders that can be treated early in life. For example, in the UK, all babies are tested for cystic fibrosis as part of the heel prick test.
Diagnostic tests are used to identify or rule out a specific genetic disorder if a baby or person has symptoms that suggest a particular genetic disorder (for example, Down syndrome). Carrier testing is used to identify people who carry one copy of a genetic mutation (a genetic change) that, when present in two copies, causes a genetic disorder (such as sickle cell anemia). This type of test can be useful in providing information about a couple's risk of having a child with a genetic disorder. Predictive testing is used to detect genetic mutations associated with disorders that appear after birth, often later in life.
These tests may be useful for people who have a family member with a genetic disorder, but who has no characteristics of the disorder itself at the time of the test (for example, breast cancer associated with the BRCA1 gene). Predictive testing can identify mutations that increase a person's risk of developing genetically based disorders, such as certain types of cancer. Therefore, before undergoing predictive testing, it is essential that a specialist thoroughly discuss with you the risks of being affected by the disorder, how the disorder would affect you, and the benefits and risks of having a genetic test to detect the disorder. Some genetic tests look for just one or a few specific genetic mutations. Other tests, known as multigene panel tests, look for mutations in many genes at the same time.
It is important to understand which genes are included in the test before requesting genetic testing and after receiving the test results. For more information, visit our page on genes associated with different types of cancer. All tests are assigned to clinically relevant categories of similar tests, which are then organized in the higher-order domain structure (for example, prenatal testing). The clinical laboratory industry is fragmented and is likely to evolve in ways that may facilitate or, conversely, inhibit the growth of genetic testing. The laboratories accounted for ninety-three percent of the money spent on the statements analyzed in this study in the test catalog database.
These findings suggest the need to develop better evidence on the quantity, types and quality of tests. We use data from two sources: the test catalog database and the genetic testing claims database maintained by Concert Genetics, a health information technology company focused on the clinical genetic testing market. We were unable to analyze the use of tests at the patient level, the amounts billed for the tests, or the denial rate of insurers. Genetic testing has evolved from single-gene testing to more complex tests that measure multiple genes. One of the reasons for the dearth of evidence about the availability and expense of tests is that public records and databases that collect the necessary data have limitations. If you are offered these tests, doctors will look at the risks involved to help you decide if you should have the test or not.
The human genome was mapped just fifteen years ago but since then adoption of genetic testing has exploded. These types of tests determine the order of basic components of DNA (nucleotides) in a person's genetic code - a process called DNA sequencing. The rapid influx of tests and fact that many genetic tests are developed in laboratories that do not require FDA approval pose regulatory and coverage policy challenges.
