Direct Access Testing (DAT) or direct-to-consumer (DTC) testing has been around for some time and has largely been discouraged due to lack of provider involvement for test interpretation. However, with advances in genetic testing, patients now have the opportunity to easily send in a swab and receive a plethora of genetic test results. This process is relatively new territory in healthcare, thus raises privacy, ethical, and safety questions.

Patients Are Intrigued
Direct access genetic tests are now available from dozens of companies and are marketed directly to consumers through television, print, and Internet ads. With minimal effort, patients can send in a sample and receive:

  • Predictions about the likelihood of contracting certain illnesses
  • Information about common genetic traits
  • Pharmacogenetic data
  • Ancestry information

The popularity of DNA testing is steadily growing as patients desire to learn more about their genetic makeup.

Lack of Regulation & Interpretation Oversight
There are concerns around test value, interpretation, and associated fraudulent activity. Genetic testing is the fastest-growing area of Medicare fraud, and there is minimal regulatory oversight. Commercial DNA testing is subject to Federal Trade Commission protections regarding privacy disclosures and U.S. Food and Drug Administration standards for drug and medical research data usage; however, these genetic testing companies are not covered by federal privacy rules, such as HIPAA.

The American Medical Association (AMA) is an advocate for greater regulatory oversight of DTC. The AMA contends that for an accurate interpretation, genetic test results may require provider expertise that considers the full picture of a patient’s health scenario, such as family history, environmental factors, health conditions, and medications. It also stresses that test results may come with some unintended knowledge and consequences.

The Debate
On one hand, we are encouraging patients to take a more active role in their healthcare and to gain a greater understanding of their specific conditions in order to make better-informed decisions. On the other hand, there are concerns that DTC testing can be misleading and that it lacks additional information patients need to accurately understand the results. There are also privacy concerns about the data being used in an unintended fashion (e.g., by employers or insurance companies to determine eligibility, by law enforcement in a court case, etc.).

The test quality and value of DTC companies has been questioned, along with the fact that many companies sell de-identified, aggregate patient data to pharmaceutical and other research companies for a profit. While selling the data comes with privacy concerns, the aggregate data can legitimately be used to speed pharmaceutical development. As usual, there are pros and cons.

Going Forward
It is likely that DTC will continue to gain favor among consumers. Patients are curious, and the testing is relatively easy to access and afford.

So, where do we draw the line and where do we need more oversight? In today’s shift to patient-centered care, it makes sense that patients should be able to order certain tests. It then becomes the responsibility of the healthcare system to help patients understand those results and learn to take greater responsibility for the choices that impact their health.

In summation, because there is currently little regulation of DTC genetic testing, it is wise to get your physician’s input and assess the quality of available services before paying for testing. Testing laboratories are also strongly encouraged to provide education to consumers about the risks, benefits, and unintended consequences of the results, and consumers should take these factors into account before deciding whether to test.

Orchard’s Commitment
Orchard Software is committed to keeping you informed and being a trusted resource you can turn to for industry-related education. As always, we welcome your feedback. Follow us on Twitter at @OrchardSoftware, and feel free to respond to this post by emailing us at news@orchardsoft.com.

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