Understand More about Exome (Clinical Genomics)
Being diagnosed with a hereditary condition can be scary. That’s why early detection is so important and can make all the difference in the world when it comes to getting in front of a disease.
Know The Basics
Types of Genomic Testing
Chromosomal Microarray
Chromosomal microarray (CMA) is a test designed to look for genetic changes in your genome. CMA is especially good at finding extra or missing genetic information. For many people, these imbalances can be the cause of an existing medical condition.
Exome Sequencing
Exome sequencing is a comprehensive test designed to look for genetic changes (mutations) in your exome that may be the cause of an existing medical condition. Some genetic tests just look for common mutations, while others may just look for changes in common genes. Exome sequencing looks at all of the genes and all of the mutations, making it a comprehensive genetic test.
why is genomic testing important?
By knowing the underlying genetic cause of a condition, your doctors may be able to treat and manage your health better. They may also be able to better understand if your medical condition may also affect other family members. As researchers and doctors continue to learn more about genomics, we are able to find better treatments and cures for certain conditions.
Is Genomic Testing Right For You?
Your doctor may consider exome sequencing or CMA, to identify the underlying genetic cause of your medical concerns when:
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Previous genetic and medical tests have not yet found the cause of your medical concerns, and your doctor thinks it may have an underlying genetic cause. |
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There is no specific genetic testing available for the genetic condition you may have. |
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Your medical concerns may be caused by changes in more than one gene and genomic testing is a way to test for all of them at once. |
Understanding Disease Better Through Quality Testing
your genes carry a story that is unique to you and makes you who you are. taking a close look at your genes can help you better understand the cause of your medical concerns.
How is Exome Sequencing Performed?
* ”Family members” refers to blood relatives, such as brothers/sisters/parents/grandparents/aunts/uncles/cousins
** Availability of results varies based on test ordered.
How is CMA Performed?
Family-Based Genomic Testing
benefits of exome sequencing and cma:
Comprehensive genomic tests may help find the underlying cause of your medical concerns. Finding a diagnosis through this test is beneficial because:
- Quicker and more cost-effective diagnosis, since they study multiple genes at once
- May guide or influence your treatment or medical health care decisions
- Removes uncertainty related to having an undiagnosed disease
- Provides awareness about health concerns in your family members and/or risk of passing on the genetic change to future children
Results
It will be important to discuss your results with your healthcare provider to determine how they may impact your medical care.
primary results for exome sequencing and cma
positive/likely positive
A mutation was found that is known to be associated with your medical concerns
Genetic testing for the specific mutation may be considered for family members
Uncertain
A DNA change(s) was found, but it is not clear if this is the cause of your medical concerns
Studying your genomic data in the future may provide useful information
Negative
The underlying genetic cause of your medical concerns has not been found
Studying your genomic data again may be helpful in the future
secondary findings results (exome sequencing only)
positive/likely positive
A mutation was found in a gene that is unrelated to your medical concerns, but may affect your health in the future
Genetic testing for the specific gene mutation may be considered for family members
It will be important to discuss these findings with your doctor
Negative
No mutations were identified among a group of common disease genes unrelated to your medical concerns
There may still be genetic changes that may affect your future health, however they were not identified through this test
Things to Consider
limitations
In some cases results may be negative. Although these tests are designed to look at the entire exome/genome, the cause of your medical concerns may be in an area of the exome/genome that is not well understood or cannot be identified.
If your results are negative, your healthcare provider may choose to do additional genetic testing now or in the future. Negative results could also suggest that the medical issues you are concerned about are not inherited.
secondary findings for exome sequencing
Because this test looks at all of your genes at once, medically important mutations may be found that have nothing to do with your current medical concerns. If this happens, you could potentially learn new information about your health, for which there may be recommended medical follow-up. You can choose ahead of time if you wish to learn about this information.
testing for family members
Genomic testing may find a genetic change in you that may also be found in your family. It is important to consider sharing your results; however some family members may not want to know if they are at risk for developing a genetic condition. Ideally, your family members should meet with their doctor or a genetic counselor to discuss their options for being tested. Genomic testing may also find unexpected information about family relationships. You can discuss these possibilities with your doctor/genetic counselor.
privacy
You may wonder if your genomic test results could be used against you/or your family in the future. Your insurance company has access to all your test results in your medical record. However the Genetic Information Nondiscrimination Act of 2008 (GINA) is a U.S. law that states you cannot be denied a job or denied health insurance because of your genetic condition. Unfortunately, this law does not apply to all individuals and to some types of insurance, including life insurance. Your area or country may have other, more complete laws in this area.