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Making the most of direct-to-consumer genetic tests

It was – and is – big news: In March, the Food and Drug Administration (FDA) granted approval for companies to market and distribute the first direct-to-consumer genetic test for cancer. No physician need be consulted.

It was a bold move, one that will change medicine forever.

In fact, it was a key point of discussion at the summit 2bPrecise hosted in California in mid-June, Ahead of the Curve: Precision Medicine Meets Clinical Care. Keynote speaker, renowned scientist Lee Hood, MD, PhD, noted consumer involvement in their own wellness is a critical element in P4 medicine – health care that is Predictive, Preventive, Personalized and Participatory.

As I consider the implications of the FDA decision, paired with growing  consumer interest in genetic information, I can see both tremendous upside and areas of potential concern. First, the upside:

  • We want individuals to be as engaged as possible with their care. We want them to be aware of their health risks – genetic, environment and lifestyle – and we want them to be proactive in pursuit of their wellbeing. Giving them access to personal health information is key to meaningful collaboration between patients and providers.
  • Who better to own their health data than individuals themselves? Our system has evolved in such a way that requires a provider to proactively “release” personal information to patients – even though this information reflects their own physical being. This is not the case in many other sensitive areas of life: Individuals own their own financial data, for example.

So, what are the potential concerns? Here are some examples:

  • Patients may not understand the limitations of certain genetic tests. The FDA-approved direct-to-consumer test, for instance, tests BRCA 1 and 2 genes, which may indicate risk for breast, ovarian or prostate cancer. But they represent only a handful of the thousands of genetic variations associated with these cancers. If a patient doesn’t understand this, they may view the BRCA 1 or 2 test as a definitive “yes, you are at risk” or “no, you are not at risk” answer – and may become defeatist (“nothing I can do”) or falsely confident to the point of neglecting important self-care (like breast exams) or screenings (like mammograms). A recent story on NPR explored this risk quite effectively.
  • There are great variations in the quality of genomic tests – and in the depth of interpretation that accompanies them. Because this is a new field filled with nuance, we need to scrutinize and analyze appropriately to make sure we are deriving accurate conclusions from what we are seeing. And we must realize that while a specific test might unveil one set of pertinent data, there may be other factors that should be considered before taking action, as well.
  • Genomics in day-to-day care delivery is relatively new to healthcare practice. Physicians are in the process of understanding the potential value of genomic data, how it intersects with other clinical indicators (such as environmental factors or comorbidities and related treatments), and how to ensure it can be accessed in a meaningful way as they interact with patients. At this stage, not all clinicians are able to effectively answer the “what next?” questions patients may pose after getting results from an at-home genetic test.

What’s the best way to take advantage of the upsides and address concerns? In a word: Education. Patients need to better understand what conclusions can and cannot be drawn from individual tests. And clinicians need to more quickly understand the impact genomic information can have on care.

The FDA unleashed an unstoppable force in granting access to the first direct-to-consumer genetic test.  And with education, it can clearly be a force for good.

Now the industry must respond quickly. We must address important issues that surround the use of genomics at the point of care: assessing economic impact, for instance, and ensuring physicians stay abreast of the vast body of knowledge generated in this growing and promising field. 2bPrecise is committed to encouraging dialog, and will explore these critical topics in upcoming blogs and summits.

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