Important Considerations for Individual Genome Sequencing

Limitations in Current Knowledge

Today, genome experts understand only a small percentage of the total DNA code that exists in a human genome. Your genome sequence will contain numerous DNA changes or variants for which there is no known information. There is also still a small portion of the genome that cannot be sequenced with clinical technologies. These regions are not thought to contain many, if any, important genes, but it is impossible to know for certain.

DNA-Health Relationships are Complex

The relationship between a potentially serious DNA change and having a disease may not be straightforward. This may be because that particular DNA change has not been previously reported and its effect on how the gene works is not clear. It may also be due to differences in the penetrance and expressivity of the disease. As more individuals are sequenced, we will learn more about the milder forms of some inherited genetic disorders.
Our knowledge of DNA variants that have been linked to genetic disease risk is fairly new. These diseases (such as heart disease, type II diabetes, cancer, and glaucoma) are common and also very complex with non-genetic factors such as lifestyle habits and environmental exposures involved. We do not yet know all of the DNA variants that may be associated with each condition and most currently known DNA variants have only a small effect on a person’s risk for common diseases.
If DNA changes are found in your genome sequence that are suspected to cause a disorder or are linked to increased risk for health conditions, you and your doctor may wish to perform additional tests or screens. The medical investigations needed to evaluate potential symptoms may be limited or unclear. In addition, the health evaluation process could expose you to unnecessary or potentially harmful medical tests and procedures.

Future Changes in Genome Knowledge

As discoveries accelerate, our understanding of the human genome and each genome story will also accelerate. The new knowledge could support or reject previous interpretations of what some DNA changes mean. It is impossible to predict future knowledge. Accurate interpretation will require regular updates through your doctor.

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Illumina

Please note:
Individual Genome Sequencing will be performed in Illumina's CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory's, under a valid and unexpired California Clinical Laboratory License. The Individual Genome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Lab 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 your doctor in the evaluation of a broad range of health conditions or physiological traits. You will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of your genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If you have any questions or concerns about what you learn through your genome sequence information, you should contact your doctor or a genetic counselor.

Currently Illumina does not accept orders for individual genome sequencing services from the following states: Florida, New York, and Rhode Island.