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At-Home Genetics Test: Too Much Information and Not Enough Explanation?


Twenty-one years ago the U.S. Human Genome Project began with the goal of mapping out which genes are responsible for our physical and biological traits.  Since inception, scientists have gained first-time knowledge regarding how genes affect your tendency towards dozens of conditions and traits.  Little did anyone know that capitalism would have a field day with the results.

There has been an explosion of direct-to-consumer genetic tests over the past several years.  Yet, these “at-home” tests are still in the infancy stages and genetic specialists are worried that the results will confuse or worry those who don’t consult their doctors for explanations.

A little bit of knowledge can be a dangerous thing.

All it takes is a swab of the cheek or a blood sample to determine if you are a carrier of an inherited disease, or predict your risk for breast cancer or Parkinson’s.  These test kits are widely available online and sell for several hundred dollars. While people may think the knowledge will bring them peace of mind well worth the price, they aren’t equipped to understand the findings.  And because people may make medical decisions based on the results without consulting their doctor, the FDA has decided to restrict the availability of these tests.

You can imagine what the manufacturers think about that.  More and more companies have seen a boost to their bottom lines because people desire to live long and healthy lives.  In the mad rush to profit from this basic human need, less than stellar products have hit the market.  The U.S. Government Accountability Office studied 15 direct-to-consumer tests and reported, “. . . egregious examples of deceptive marketing, in addition to poor or non-existent advice from supposed consultation experts.”

The role of genetic counselors.

As a result, some companies are now offering phone counseling by qualified experts.  This way the average consumer can understand the hard science involved with genetic probabilities.  Most people are probably unaware that they can get help interpreting the results and don’t take advantage of the offer.  Yet, others don’t want outsiders knowing their personal medical history, which may be what spurred them to purchase the test in the first place.

Not surprisingly, experts recommend that genetic testing be performed through a health-care provider and not by an at-home chemistry set.  This is especially true with patients seeking to find their predisposition to cancer.  The knowledge could bring dire consequences and without a doctor’s guidance, could lead to actions people wouldn’t ordinarily consider. 

The best-case scenario is that each person’s unique DNA will provide a way to optimize his or her own care.  Possibly 10 years from now a doctor can look at genetic code and tell you not to worry about breast cancer so much, but to focus more on taking care of your heart.  That would be the ultimate in genetic counseling.


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