Genetics Testing
Genetic testing detects changes in chromosomes, genes or DNA, depending on the suspected disorder. Identifying these changes can be helpful to establish a clinical diagnosis and/or to understand the prognosis of a particular condition.
- Prior to testing, health care providers can offer important information about the benefits and limitations of genetic testing and possible outcomes of the test results.
- New technologies called next-generation sequencing allows rapid sequencing of large amounts of DNA, even a person’s entire genome in just a couple of days. By identifying gene mutations early on, doctors can develop a more personalized prevention or treatment plan based on the information we know about certain types of cancers, diseases and disorders. In some cases, knowing your family history and genetic make-up could save your life.
- Genetic testing is voluntary, and the decision to be tested is personal and sometimes complex.
Frequently Asked Questions
Know what to expect in advance of genetic testing.
Genetic testing may be recommended to:
- Diagnose a genetic condition or syndrome.
- Determine what may have caused an already diagnosed genetic condition or syndrome.
- Identify individuals at risk for developing a genetic condition or syndrome.
- Identify individuals who are carriers of a genetic disease, often for reproductive health reasons.
- Help guide health care providers in offering the best treatments for an individual with a diagnosed genetic condition or syndrome.
Individuals at high risk for a genetic condition may live with uncertainty about their future and their children's future. A test result showing that a genetic change known to cause disease is not present can provide a sense of relief.
The results of a genetic test can confirm or rule out a suspected condition or help determine a person’s chance of developing or passing on a genetic disorder. A test result showing that an individual has a disease-causing gene change can also allow patients to make an informed decision about family planning.
Genetic testing provides only limited information about an inherited condition.
Genetic tests often cannot:
- Determine if a person will show symptoms of a disorder.
- How severe the symptoms will be.
- Whether the disorder will progress over time.
Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed. In some cases, genetic results can reveal unwanted information about other family members in addition to the person who is tested.
To determine if genetic testing may be beneficial, health care providers often review family history during a genetics evaluation. Information from a patient’s family tree, including ethnicity (some genetic conditions occur more frequently in individuals with specific ethnic backgrounds), can be just as important as information from a genetic test and may help in making a diagnosis. Family history is often recorded as a family tree or a pedigree. This allows for an illustrative representation of family relationships and those family members affected by medical conditions.
Some insurance companies cover genetic but some do not.
Before you have a test performed, it is important that you ask your insurance company about specific coverage.
Genetic testing is typically a covered benefit when specific indications are met. Genetic testing costs anywhere from $200 to more than $5,000 depending on what tests are ordered. Out-of-pocket costs will likely depend on yearly deductibles and co-insurance. Most testing laboratories work closely with insurance carriers to provide patients a pre-verification and estimate of out-of-pockets costs before testing is started.
At this time, federal law protects a patient’s genetic information. The Genetic Information Nondiscrimination Act (GINA) of 2008 (Public Law 110-233) prohibits health insurance companies and employers from discriminating based on genetic test results. However, at this time, laws do not protect against discrimination for long-term care, disability or life insurance.