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Drawbacks of Consumer Genetic Testing – And What Pharma Can Do To Make It Better

By: , Posted on: October 17, 2018

Genetic testing has become a big hit with consumers. Companies like and 23andMe flood the airwaves with commercials about the joy of using DNA testing to find out about your heritage. But another reason genetic testing is attracting consumers is because it also can tell people about some of their genetic health risks. The popularity of this concept has given rise to a number of direct-to-consumer (DTC) genetic testing companies.

“Many physicians welcome the trend, saying it’s giving people valuable information,” reports NPR’s Rob Stein in an article about the pros and cons of at-home genetic testing. “Consumers can find out early whether they are at increased risk for cancer, Alzheimer’s and other diseases — and take steps to protect themselves. The testing can also sometimes help identify the safest and most effective medications to use.”

But does it really help consumers?

The potential of home genetic testing is exciting, but there is still much doubt about its genuine usefulness. In an informative Science News feature about her own experience with genetic testing, geneticist-turned-science writer Tina Hesman Saey finds that while some results might be interesting, they simply aren’t very impactful in terms of guiding consumers to make better choices. “A lot of what you can learn from consumer genetic testing is more useful for dinner party banter than health decisions,” she writes.

The CDC believes that this kind of testing raises a number of vital questions, such as: What do people do with the information? Do they share the results with their doctor? Do they change their health behaviors? Some questions point to the possibility that the testing might not just be useless, but actually harmful. For instance, what if participants develop anxiety about their health and future? Or might they end up having “unnecessary and potentially harmful medical procedures which may be inappropriate for their situation” in response to their results?

There are also concerns about a lack of thoroughness in the testing, the risks of not having a consultation with an expert who can help interpret results and even the possibility that the results may be inaccurate. A recent (admittedly very small) study found inaccuracies in 40% of DTC genetic testing results that they looked at. What would be the point of doing the testing at all if you could be acting on bad information?

Innovative pharma firms could help increase accuracy

All of these drawbacks have not dampened consumer enthusiasm for the idea of DTC genetic testing, though. People like the thought of being able to know what diseases or conditions that they could be at risk for so that they can be more proactive in seeking treatment. The demand is there, and there is plenty of hope that science can catch up to it—with time.

There is also opportunity for the pharma industry to help improve the situation. In a piece in Pharmaceutical Executive, Craig Wylie and Prashanth Prasad explain that focusing R&D innovation on designing better tests is the route that some pharma companies are taking. “With more accurate diagnoses, companies can provide targeted therapy and create greater value for patients,” they explain, noting that “Illumina and Amgen have collaborated on the development of a next-generation sequencing-based companion diagnostic test that screens patients with colorectal cancer.”

With further advancements in science and technology, people will eventually be able to make healthcare decisions with greater confidence based on DTC genetic testing—and pharma has the ability to help make the process more accurate and beneficial for consumers.


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Pharmaceutical Sciences

It is impossible to imagine modern medicine without the continuing contributions of pharmaceutical science. This notably cross-disciplinary field, encompassing biomedical science, pharmacology, chemistry, microbiology, toxicology, genetics, and more, enables the discovery and development of drugs that millions of people depend on. Elsevier’s journals, books, eBooks and online solutions are used every day by researchers and industry professionals.