We have not progressed much from the days of traveling salesmen peddling patent medicines and elixirs. Today, we have infomercials with unsubstantiated claims for supplements offering quick and easy results, and private companies offering whole-body imaging. And now…we are seeing an explosion of direct-to-consumer genetic testing. How can we separate the amazing potential of genomics and precision medicine from the preconceived misconceptions of this new technology?
Direct-to-consumer (DTC) offerings for genetic tests include panels for hereditary cancer and markers for Parkinson’s, Alzheimer’s, and celiac disease. In addition, consumers can find out which genes might determine the right foods to eat, what type of exercise is best for them, whether they have a tendency for thrill seeking and infidelity, their predilection for addiction to alcohol, tobacco and other drugs, and their ability to detect bitter taste, or prefer cilantro. Of course, much like the patent medicines of old, there remains some promise but much more hype.
I am often reminded of a genetically determined trait that can be obtained from a simple lab test that has been around for years: blood type. In fact, the ABO blood group system was described by Karl Landsteiner in 1900. Patients frequently are disappointed to learn that this is not routinely reported when other lab work is ordered, and carry a misconception that knowledge of their blood type will be helpful if they ever need an emergency blood transfusion. They are unaware that simple ABO classification is only one factor in determining compatibility and cross matching of blood products. I tell my patients that if they are curious, they can find out their blood type very easily: just donate blood to the Red Cross—this is a win-win for everybody.
So, while many of these test results may be interesting or even amusing, do they provide any real value? The real value for consumers is knowledge about risk stratification. For instance, negative genetic screening is often far less impactful than certain lifestyle modifications, risk avoidance, or lifestyle changes. For example, would consumers be better off spending their money on more impactful things such as smoking cessation, medical tests, and health screenings that have been fully vetted by scientific rigor? In addition, have we even bothered to see if there are more appropriate DTC genetic offerings? For instance, there has been far less marketing towards pharmacogenomics—which can provide insight into the individual variances on medication response and side effects—providing insights that might have more immediate benefit.
In contrast, positive results may impart only minimal or incomplete risk for a disease. Yet, encouraging consumers to be more engaged in their health is never a bad thing. Often learning of genetic risk can be highly motivating. In my own practice, I have seen that genetic identification of familial high cholesterol can be taken much more seriously than current screening and recommendations and statin therapy. Similarly, genetic risk for cancer or heart disease can be far more motivating and promote healthier lifestyles.
In this light, DTC testing has a lot to offer. But there’s one more gray area that needs to be addressed: data stewardship of these commercial tests. Patients deserve more options for uploading their genetic information for scientific study and disease registry. They should also demand greater transparency around the buying and selling of their genetic data.
At the end of the day, a lot of good can be derived from the ethical and properly consented use of the collective treasure trove that is commercially-derived data. But a lot of harm could also be done if everyone’s interests are not aligned.
Photo: andresr, Getty Images
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