By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Director of the Hayes Genetic Test Evaluation (GTE) Program
A few weeks ago, USA Today published an article about 18-year-old Kristen Powers, who made the decision to be tested for the single gene that causes Huntington’s disease, the disease that claimed her mother’s life at age 45. With her 50-50 chance of developing Huntington’s disease, this young woman took a proactive approach. But not every individual who is at risk for a fatal, neurodegenerative disease such as Huntington’s wants to know if they’ll inherit the disease.
Certainly, knowledge is power, and with the rising availability of direct-to-consumer (DTC) genetic tests, consumers have more opportunities to learn whether they are at risk for certain diseases. As the USA Today article reinforces, some people need to know so they can plan for what their future holds. For those individuals, testing makes sense.
The young woman in the story did not simply login into the Internet or run down to her neighborhood pharmacy, buy a test, swab her cheek, and send in the sample to be tested. She sought testing through a healthcare professional and received genetic counseling to prepare her for the result, positive or negative. She has a strong support system in place and appears to be psychologically prepared to handle the result, whatever it may be.
Unfortunately, that’s the piece we risk losing with the ready availability of DTC genetic tests. Without input from a healthcare professional trained in genetic disorders, the potential exists for consumers to misinterpret test results and make risky lifestyle choices because of their interpretation of the results.
Also confounding the testing issue is the concern that the results of DTC genetic tests are not always accurate or reliable. I’ve blogged before about the patient harms that can arise by rushing genetic tests to the market, so I won’t repeat myself. Let me just say that the accuracy and reliability of DTC genetic tests remains a concern.
To test or not to test is a complicated issue. Kristen is a brave young woman who appears to be well equipped to face Huntington’s disease head on. What would you do in her situation? If you were at risk to develop a fatal, neurodegenerative disease would you want to know?