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.

G6PD deficiency represents both a complicated example and a simple example of a genetic disease. It is complicated, because there are many different mutations that cause G6PD deficiency. It is simple, because it is a disease caused by mutations in a single gene, and the gene is on the X chromosome. This means that determining if males have the condition is relatively easy, because they only have one copy of the gene. Boys would only inherit this disease from their mothers, because the mother provides the X chromosome to boys. So, a male child could either be tested directly or could find out if he had the condition by looking at his mother’s genetic information.

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