New Guide to Help Consumers Navigate Genetic Health Testing

BIOtech Now
Jeremy Isenberg

In recent years, we have seen a growing array of direct-to-consumer (DTC) genetic testing products rise to the fore. These tests are emblematic of a new era of healthcare that puts patients at the center of decision-making, allowing all of us to be more engaged in our personal healthcare.

The uptake of these tests is remarkable—more than five million consumers in less than ten years’ time. And according to a report by Credence Research, the global DTC genetic testing market was valued at $117 million in 2017 and is expected to grow to $611 million by 2026.

Some of these DTC tests—genetic health tests—can provide helpful information about an individual’s genes that can offer insight regarding a predisposition for certain diseases and health conditions. This may then empower that individual to discuss a healthcare plan with their physician to get confirmatory testing, identify disease prevention or treatment strategies, and potentially engage in a healthier lifestyle.

As articulated in a Journal of Precision Medicine editorial by BIO’s CEO, Jim Greenwood, tremendous opportunity exists in the data that’s acquired from consumers of genetic health tests as the data may lead to a new generation of treatments. Scientists can now mine this genetic data to identify clinically relevant genetic targets—or biomarkers—to target with precision treatments.

While there are undoubted benefits, DTC genetic testing has provided some challenges for consumers, namely the issues of privacy and consumer education. These challenges are why the Personalized Medicine Coalition (PMC) recently published A Consumer’s Guide to Genetic Health Testing. The Guide rightly juxtaposes the benefits alongside the limitations of these tests to help consumers navigate the genetic health testing process.

The Guide describes what genetic tests are, outlines the types of information the tests can provide, and explains what consumers should consider before ordering an at-home genetic health test directly from a genetic testing company.

Since these tests are direct-to-consumer, consumer education is incredibly important so the consumer can be fully aware of what the results can and cannot tell them. For instance, if a genetic health test indicates that an individual has an increased risk of getting breast cancer, that individual should consult their physician.

Conversely, it is imperative for the consumer to understand that the absence of this risk in the test results does not eliminate the risk of getting breast cancer. The consumer would be better served to work with their physician to undertake the recommended health screenings—mammograms in this case.

PMC’s Guide also touches on the need to mitigate consumer privacy concerns that arise from the use and storage of consumer data. Some unintended consequences involved with this data may turn away prospective consumers. One prominent instance is the Golden State Killer, where we saw law enforcement request genetic information from a test company, which can be done under subpoena without need for the consumer’s consent.

It’s important to understand that consumer genetic testing is still a burgeoning field and that privacy practices are still evolving, but there are consumer protections in place, namely the Genetic Information Nondiscrimination act of 2008 (GINA) and HIPAA. Regardless, the Guide instructs the consumer to carefully review the testing company’s privacy and consent policy prior to use.

PMC’s Guide also discusses the standards for quality control that must be met to ensure that the test results are accurate and reliable. It delves into the regulatory framework in place for this purpose—the Food and Drug Administration reviews the accuracy of the test results and assesses whether consumers can safely use and understand the test reports. Lab test companies must also comply with CLIA licensure and quality standards.

Most importantly, the Guide emphasizes consultation with genetic counselors, their physician and other healthcare professionals to help guide the consumer, as they are best suited to determine whether any changes to the consumer’s treatment regimen would be appropriate. This may involve follow-on items such as repeat testing or confirmatory diagnostic testing.

Above all, consumers must go into the testing process with measured expectations and exercise caution before inappropriately jumping to conclusions based on the test results. Once these limitations are fully appreciated by the consumer, we can turn to focus on the benefits of a more engaged population in its healthcare decision-making.

The Guide can be accessed on the Personalized Medicine Coalition’s website:

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