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The purpose of whole exome sequencing is to try to find a genetic cause of your or your child’s signs and symptoms. Most people who have WES have already had some genetic testing. WES is one of the most extensive genetic tests available. Because WES looks at more genes than most genetic tests, it may find a genetic cause for your or your child’s signs and symptoms even if previous genetic testing did not.
Cincinnati Children’s Hospital Molecular Genetics Laboratory does not recommend WES for healthy people. WES is not usually the best test for finding out if someone is at risk of having a child with a genetic condition. WES does not help diagnose non-genetic conditions.
This test requires 3 mLs (about 1 teaspoon) of blood from the patient having WES. Sometimes blood samples from parents or other family members are also tested. The laboratory will isolate DNA from the blood sample. The exons (coding parts) of most genes will be examined. This is done for both the person having exome sequencing and for any family members that give DNA for comparison.
Your or your child’s DNA will be compared to a normal “reference” DNA sequence and (if applicable) to family members’ DNA. WES will identify some changes in the DNA that differ from the normal sequence. The laboratory will use information from your doctor or genetic counselor, as well as many different scientific tools in the laboratory, to decide which genetic changes are likely to be responsible for your or your child’s signs and symptoms. The genetic changes that are likely to cause these signs and symptoms will be reported to your doctor.
WES determines a genetic diagnosis in about one in every four patients (25 percent) who has the test.
WES may find a genetic cause for your or your child’s signs and symptoms. This may help guide medical care. A genetic diagnosis may give your family information about the chance that you could have other children affected with the same condition. This information may also be useful for other family members.
It is possible that WES will find a genetic cause of your or your child’s condition. Identifying the genetic cause of your or your child’s symptoms may change your medical treatment, but may or may not help predict the outcome of the condition.
It is possible that WES will not find a genetic cause of your or your child’s condition. A negative result does not mean that this condition is not genetic. The result may be negative because:
The test may detect a change in the DNA, called a variant of uncertain clinical significance (VUCS). A VUCS may or may not be related to disease. Your doctor will tell you if additional testing is needed to help understand these results.
Genetic changes in genes that are likely related to your or your child’s condition will be discussed in detail in the report. Genetic changes identified in family members and related to your or your child’s primary result will also be included in the patient’s report. Family members will not receive separate written reports.
Other Important Results (Secondary Findings)
Genetic changes in genes that are not associated with your or your child’s current disease, but which may have an important impact on health, will be included in the patient’s report, unless you tell us that you do not want this information. See below for more information on secondary findings.
No. The Genetic Information Non-discrimination Act (GINA) prevents insurance companies from denying health insurance coverage based on a person’s genetic test results. GINA also prevents employers from discriminating against employees based on their genetic test results. However, this law does not apply to life insurance or long-term care insurance companies that may withhold services based on genetic tests.
The laboratory will keep leftover DNA for WES for two years, and may discard those samples after two years. The laboratory will store the information from this test for 20 years. The data will be stored on a protected computer and will be kept safe.
An appointment with a geneticist and genetic counselor is an important part of WES. We recommend that you meet with a geneticist and genetic counselor before having WES. They will help you understand what information you can get from this test and will help with the payment precertification process. They will also help you to decide if you want to know about secondary findings. A referral from a doctor is required to schedule an appointment in the Genomic Medicine Clinic.
It is also important to meet with a geneticist and genetic counselor after the results of the test are known, so that you can understand what these results mean for you or your child.
Patients at Cincinnati Children’s with a physician referral may schedule an appointment for genetic evaluation and counseling by calling the Division of Human Genetics (513-636-4760) and asking to speak with the Genomic Medicine Clinic coordinator.
If you are outside of the Cincinnati Children’s area and would like to find a geneticist or genetic counselor near you, ask your doctor for a referral. You may also visit:
3333 Burnet Avenue, Cincinnati, Ohio 45229-3026 | 1-513-636-4200 | 1-800-344-2462 | TTY: 1-513-636-4900
New to Cincinnati Children’s or live outside of the Tristate area? 1-877-881-8479
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