By
Brian Mariani, Ph.D.
How much do you want to know about yourself? We think we know a lot already, the good and those things we need improvement on, but do you really want to know what you’re made of? I’m talking about our genetic “selves”, the information that we are born with (and have no say in choosing)- an almost equal component from each parent- combining to make us both similar to our family members, but unique at the same time.
The era of being able to take a “look” at our unique genetic selves is upon us. Today, nascent as the field is, you can place an order with one of a dozen genomic companies to have your genetic quilt-work stitched together and made available for your perusal using a secure website. Although not laid out as nicely as a quilt, you get a listing of “markers” from across your chromosomes that display the constellation of markers you have inherited.
These markers are in the neighborhood of your genes- the conveyers of your traits, looks, abilities, metabolism, and health & disease, among many other aspects of self. The databases used by these companies make what are called associations between the versions of your genes (usually 2 copies per gene: mom’s and dad’s) and those that have been studied and characterized in genetic association studies performed in the research realm.
What you get therefore is a prediction, however large or small, of how your genes might stack up to the rest of the population; some versions might be good, some might be not so good, and many will be neutral- meaning they’re just like everyone else’s. Do you want to know that you have good genes with respect to heart function or sugar metabolisms, if that means you also find out about your ApoE4 gene, linked to Alzheimer’s ? Your call.
This is where this blog entry could lurch on for pages, but I will leave you with only some basic facts. The price for these test’s can range from ~$600 to $1,250 depending on method and degree of analysis. No blood need be drawn; you can submit a self-collected cheek swab using a kit supplied by each company. Some medical history may be asked for, but probably not required. After several weeks, you will be given a secret pass code to view your results. The data files can be extensive, but most websites are designed for easy navigation and searchability, either by gene, trait, or disease. Data on your ancestry may be part of the package as well. Importantly, make sure before hand that a session with a genetic counselor is available and included in the price. Then, as with anything new in the rapidly evolving world of “information” technology, keep an open mind (or check your data to see if you have inherited this trait!).
In closing, please note that the concept of personalized genomics has raised heated debate inside and outside the medical genetics community. Many say that knowledge is power; that a sophisticated, self aware cliental is ready for this knowledge- these being individuals wanting to maximize their genetic potential, or take preemptive measures if necessary, or they’re just curious. Opponents argue that for many users, their personal genetic knowledge will only shade things toward the gray, or darker colors of the data, where appropriate perspective may not be kept or counseling sought. As with all new, breakthrough technology, this debate will only rage on as the field moves forward. And as with all pioneers, those in personal genomics field will claim that the drive for moving the science forward is in their genes.
For more information, take a look at the following companies that I’m familiar with; 23andMe, DeCODE, DNA Direct, GATC Biotech, Knome, Navigenes, and SeqWright, among others.