Sleuthing for Answers in Your Own DNA
If your son had a disease with a known genetic cause, but you couldn’t get a doctor to prescribe genetic testing or your insurance to cover it, a consumer DNA test could provide an answer.
I was curious to see how difficult it would be to use direct-to-consumer (DTC) DNA test results to figure out if a person had a mutation that caused a specific genetic disease. A colleague donated data for this experiment. Her experience with her son, who experienced life-threatening complications from an undiagnosed genetic disease, inspired this project. The take-home message: It can be done, but it is not easy. Most will require expert assistance, and anyone with a positive risk result should seek genetic counseling.
Data from direct-to-consumer (DTC) DNA testing services, such as 23andMe.com, Ancestry.com, Family Tree DNA, or Gene By Gene (see SNPedia for a list), can provide the information needed to figure out if a family member has a genetic disease or is at risk for a genetic disease. I tested how easy it would be to figure out if a person had G6PD deficiency.
G6PD deficiency has important implications for medicine and diet. A person with this condition can wind up with a life-threatening type of anemia if given…
