by Dr. Hsien-Hsien Lei
Posted January 4, 2008 in DNA Testing, Polls About DNA
Mixing genealogy/ancestry genetic testing with medical genetic testing has always seemed tricky to me. My feeling is that most people who are interested in learning more about their family tree tend to be wary of using their DNA to understand their medical history. The target market for the two sides of consumer genetic testing may overlap, but not completely. So, difficulty arises when unexpected results surface from what were supposed to be purely genealogy-based DNA tests.
Last summer, the DYS464 Y-DNA marker was found to be associated with spermatogenic failure and consequently, male infertility. The frequency of the specific AZFc deletion in the DYS464 marker could be as rare as 1 in every 8000 markers and as common as 1 in 1000. According to The Genetic Genealogist, at least six genealogy DNA testing companies offer testing for the DYS464 marker. Customers who have this specific deletion may be shocked to find that they are not the biological father of their children and those who have not become fathers yet, may find that they will never have biological children of their own. How many genetic testing companies disclose the possibility of this unexpected finding from genealogy DNA testing? How many customers even have a clue that they might be in for more than just a link to some distant relative by participating in genealogy DNA testing?
Customers of next-gen personal genomics companies should be aware that they are not only signing up for genealogy DNA testing, but also genetic testing that will give them information on disease risk and propensity for certain physical and physiological characteristics. These next-gen genetic tests are being offered as one package that cannot be bought in parts although deCODEme allows customers to disable disease risk analysis for their account. (Disabling the disease risk analysis doesn’t mean you get a discount on their $985 service, however.)
This week, US News & World Report highlights GeneTree, 23andMe, deCODEme, AfricanDNA, and the Personal Genome Project. The article makes no distinction between genetic testing for genealogy purposes vs medical purposes and misleads the reader into thinking that the focus is on genetic genealogy with the title – A High-Tech Family Tree: New services use DNA to connect relatives and track down ancestors. But it’s hard to blame the reporter for getting confused when companies like 23andMe and deCODEme offer both genealogy DNA testing and what is essentially medical genetic testing (calculating risk of diseases and correlations between genetic markers and disease/physical and physiological characteristics) and yet maintain the stance that the data and analyses customers receive are not to be used for making health care decisions.
The information provided by deCODEme should be used within this informational context, realizing that there are many other factors besides genetics that contribute to disease development of the complex diseases included in deCODEme’s information services. The goal of deCODEme is to empower you by helping you to get to know your genome. If the information provided raises questions or concerns about your health, we recommend you see your doctor and discuss other options of testing or implementation of approved preventive measures.
It’s starting to seem that the many uses of DNA are getting muddled up in people’s minds. Is it possible or desirable to keep different types of results segregated? For example, a customer may not be ready to know if he’s at increased risk of such and such disease, but he might be willing to dip his toes in the water for some fun stuff like seeing if he shares genetic markers with some political despot. Keeping the various types of genetic testing separate is possible but difficult. After all, all genetic testing examines the only set of DNA each of us has and the same stretch of DNA can tell more than one story.
The genetic testing market is still in its infancy. As it develops, it is sure to split off into services catering to each type of customer and the various information levels that are desired. deCODEme is on the right track by allowing their customers to turn off the disease risk prediction function but it would be even better when we’re able to create customized genetic testing packages to suit our individual needs. We may be as unique as our DNA but right now, genetic testing is still one package fits all.
What type of DNA test are you interested in? Take the poll below the fold.
Curious Genetics and DNA Google Ads...
Yay or Nay for Genetic Testing?...
Types of Genetic Tests...
Eye on DNA Headlines for 15 April 2008...
Consumer Genomics and Personalized Medicine...
DNA Paternity Testing Myths...
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