FAQs about Genes, Loci Tested and Sequencing
At the HudsonAlpha Clinical Services Lab
Right now, the HudsonAlpha Clinical Services Lab offers whole genome sequencing exclusively. Additional genetic and genomic tests will be offered in the near future.
The human genome is a blueprint of the DNA unique to each individual. The ability to read that blueprint launched a new era in healthcare: the age of personalized medicine. Learn more about the whole genome sequencing by reading the answers to these frequently asked questions about genomic sequencing.
Why would someone want to have their DNA sequenced?
Each person’s DNA is a unique blueprint that provides the building blocks for human life. While this genomic blueprint does not define every aspect of our lives, access to personal genome information and an understanding of how that information could be used to benefit healthcare or mitigate disease risk is of great interest to many people. For some, genome sequencing information will be impactful in the management of disease or risk for disease or the determination of carrier status for use in family planning. For many, genome sequencing information is of interest purely for curiosity and for the potential that information holds. For everyone, genomics is a rapidly evolving field that will continue to evolve for the foreseeable future. Each person needs to carefully evaluate his or her comfort level with genomic sequences potentially raising more questions than answers and discuss with their physician and/or genetic counselor the immediate and possible future value of having their genome sequenced.
Who should have their DNA sequenced?
Great strides have been made in genomics and the use of genetic information in the diagnosis and management of many diseases, but there is still much to learn. Researchers have identified disease-causing variants in about a quarter of human genes; many other variants are of uncertain significance. The HudsonAlpha Clinical Services Lab is offering whole genome sequencing for compelling medical reasons under the care and guidance of a physician. The most common use of genomic information is in the characterization of cancer or the investigation of unknown disease that appears to have a strong genetic component. Another reason to consider personal genomic sequencing is if a disease with a potential genetic component is present in other family members. Each person needs to discuss these issues with a physician to determine whether or not sequencing would be beneficial.
Is having your genome sequenced done routinely or only once in a lifetime?
Generally speaking, once a genome is sequenced, there is not likely to be a strong benefit to have it sequenced again. Situations like cancer may warrant having a suspected cancer sample characterized, but once a genome is sequenced, only a substantial change in technology with drastically increased resolution would merit another whole genome assay. While the assay will typically not be performed more than once, it will be routine for physicians to reanalyze and annotate a patient. Re-analysis costs are not included in the price for whole genome sequencing through the HudsonAlpha Clinical Services Lab.
Is there a danger to having a genome sequenced?
Whole genome sequencing provides information about DNA and variants within. It does not change DNA or directly increase or decrease the risk of disease. It may reveal surprising information about ancestry or family history. It could also reveal a risk for a disease or a condition where there is no possible treatment. Each person will have their own thoughts and opinions on how this type of information may impact them or their family and therefore should carefully consider the potential positive and negative aspects of knowing your genetic makeup. The most important consideration is that no one can provide all of the answers today.
It is recommended that genetic counselors be involved in a patient’s decision to have genomic sequencing performed, and also to assist in the interpretation and meaning of results.