DNA Changes and Your Health

DNA Changes and Your Health

Your individual genome sequence contains more than three billion DNA bases. By comparing your sequence to a human genome reference sequence, we can detect DNA changes at almost every DNA base position. Depending on where they are located, changes in your DNA bases may, or may not, alter how a gene functions. Even if it does not affect a gene, the changes may still affect your genetic story.

The data gained from your genome sequence can be analyzed by genetic specialists, doctors, and researchers to learn how these DNA changes or variations in your genome may impact you. Some of the DNA changes identified in your sequence will be linked to genetic disorders that can be inherited within a family. Most of the DNA changes may represent places where humans commonly vary, or differ. These natural "variations" can be associated with a physical trait, be linked to risk for common diseases like heart disease, or impact how a person's body reacts to medications.

Researchers are searching for clues about genetic contributions to common diseases such as heart disease, type II diabetes, cancers, glaucoma, and arthritis. Unlike inherited genetic disorders, the cause of these common diseases is quite complex. Often they require multiple combinations of DNA changes along with lifestyle and environmental exposures to cause the health condition. In addition, the exact combination of risk factors (genetic, environmental, and lifestyle) required to actually develop the disease will vary for each individual.

To learn more about the genetic risk factors involved, studies may compare the DNA of people with and without the particular health condition.

DNA is analyzed to identify specific DNA changes or patterns of DNA variation that are more common in people who have the condition, but not seen in people without the condition. In this type of research, the pattern of DNA variation is usually just a link to the health condition and not the actual cause of the disease. This genetic-disease link may be described as a chance, or genetic risk, for the disease.

Although, you cannot change your genetic risk factors, it may be possible to change your lifestyle and environmental risk factors. Individuals with increased genetic risks should talk with their doctor to develop preventive health plans, including healthy lifestyle choices and regular health check-ups.

Everybody responds to prescription medications or drugs differently, including whether you experience side effects or even whether a drug will effectively treat your health condition. Some of these differences are due to underlying DNA changes in a few key genes responsible for how the body breaks down (metabolizes) drugs. These genetic changes are referred to as pharmacogenetic changes. Pharmacogenetic changes may affect how well a particular drug works (called efficacy) and/or whether the patient is at risk to experience side effects. In some cases, specific pharmacogenetic changes can lead to very serious, potentially life-threatening side effects.

Currently, there are a small number of drugs for which the U.S. Food and Drug Administration (FDA) recommends that doctors order a pharmacogenetic test before prescribing it for a patient. Ongoing research suggests that several other drugs may also be affected by pharmacogenetic changes. As we learn more about the relationships between DNA changes and drug response, doctors will be able to use pharmacogenetic information to help choose the safest, most effective drugs for each of us.

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TruGenome Clinical Sequencing Services is performed in the Illumina CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory. The TruGenome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Laboratory Developed Tests, it has not been cleared or approved by the U.S. Food and Drug Administration.

This genome sequence information can be analyzed to potentially aid physicians in the evaluation of a broad range of health conditions or physiological traits. Patients will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If any questions or concerns arise about what is learned through the genome sequence information, patients should contact their physician or a genetic counselor. Currently Illumina does not accept orders for TruGenome Clinical Sequencing Services from New York.