Genomic Testing

Genomic testing refers to testing that looks for variations in several genes or all of the genes at once. It can even look at all the genes as well as the regions in between them (the whole genome), rather than looking at just one or two genes. Genomic screening can provide a better sense of control and ownership over your health, allowing you to take a more proactive approach to your health. It may motivate you to follow screening and intervention recommendations. If you do not have records or knowledge of genetic family health history, due to adoption, estrangment or another reason, then genomic screening is one of the few ways to open doors to your genetic health history. While not a traditional care model, it allows you a way to begin to understand family genetics and take action based on the results. These results are only a glimpse into your history, but many people in this situation find it very meaningful.

A single gene may have many possible variations - some make the gene not work and cause a condition (pathogenic variants) - others have no effect on how the gene works - and others are of unknown significance. Finding that a person has a variation in a gene causing a particular condition does not always tell us how a person is, or will be, affected by that condition. There may be other causes (other genes and/or environmental reasons) that can influence this. A limitation of genomic screening is that it usually does not test for all pathogenic or disease-causing variants for a particular condition, so the results cannot be used to rule out a condition. If there is a personal or family history that indicates a genetic syndrome, it may be more appropriate to consider more specific genetic testing. Genomic doctor will advise you in these situations.