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Types of changes we may find
Every person has variations in his or her genome that make him or her unique. Most of these changes do not have any effect on our physical appearance, risk for diseases, or our behavior.
There are four types of changes researchers may find in a person’s genome:
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Normal variations: changes in genes that are not known to cause any disease or health problem. We will find normal variations in the genome of everyone we study.
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Disease-causing variations: changes in genes that cause disease.
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Disease-risk variations: changes in genes that affect your risk of developing a disease.
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Unknown or new variations: changes that we do not know what they mean. Some changes will be new and we may not know if they contribute to disease or if they are normal variations.