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The exome is the part of the genome (all your DNA) that includes all of your exons. Exons are the parts of the genes that contain code to build proteins found in your body. Exons make up about 1 percent of your DNA. Most known disease-causing variants, or DNA changes, are found in the exome.
In the past it was only possible to screen one gene at a time to find the cause of a disease. This method is still used for many diseases, but it can be costly and time consuming. It is now possible to screen a person's entire exome at once.
Genes are passed down to us from our parents before we are born. Genes have changes (DNA variants) that determine things like our height or hair color. They can also cause disease or increase our risk for disease. By sequencing your DNA, doctors may be able to find a genetic cause for your disease or health condition.
Finding a genetic cause of a disease may or may not:
A genetic counselor will talk about the test, possible results, and the meaning of the results with you during the informed consent process.
We will need a blood sample so we can get your DNA to sequence, or screen.
You may be asked to give another sample of blood if the first sample does not provide enough DNA for the test.
Positive: A change in your DNA that is known to cause disease has been found.
Negative: No changes in the genes that were screened
Variant of uncertain clinical significance (VUS): A change in a gene known to cause disease was found, but the effect of this change is unknown. It could also mean a change in a gene that is not yet known to cause disease has been found. Therefore, the significance of the change is unknown.
A doctor and/or a genetic counselor will contact you with your results to explain them and answer questions you may have. Your doctor will get recommendations that may or may not include more genetic testing based on the results of your test.
Your genetic counselor will explain the limitations of exome sequencing to you during your counseling appointment. Sometimes more testing is needed.
Yes, any information in your medical record can be seen by your insurance company. But, if your test was performed as part of a research study, those research results will not be in your medical record and it will not be seen by your insurance company. Your genetic counselor can answer any questions you have regarding insurance companies and genetic information.
The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects people from genetic discrimination in health insurance and employment. It says you cannot be denied health insurance because of your genetic condition. Your genetic counselor will talk to you about exceptions to this law.
Information for on the Human Genome project, including the latest research, educational materials (for students, teachers, and patients), and an explanation of the Genetic Information Nondiscrimination Act (GINA) and your rights concerning genetic discrimination
Information about how genes affect your health: what genes are, how they work, and how they cause disease
Download a copy of our exome sequencing brochure