Direct-to-Consumer Genetic Testing: Concerns Trump Benefits at This Point

Caroline Helwick

February 2012, Vol 3, No 1 - Health Policy

Miami, FL—Direct-to-consumer (DTC) marketing of genetic tests represents personalized medicine in evolution. High-throughput genetic technologies have made it possible to evaluate individuals at a relatively affordable price, but a number of technologic, social, regulatory, and ethical issues must first be settled before DTC genetic testing takes personalized medicine to new heights.

At the 2011 Best of ASCO meeting, Gary H. Lyman, MD, MPH, Director of Comparative Effectiveness and Outcomes Research, Duke University School of Medicine, Durham, NC.

DTC genetic testing may provide clinical benefits, but there are real concerns, he said. DTC testing may promote better patient awareness. It has been shown, for example, to increase patient awareness of genetic-associated risks (eg, BRCA mutations in breast cancer) and access to care in the way of referral for professional genetic testing and counseling.

“But the benefits are clearly limited by the complexity of genetic information, the social context of genetics, and the questionable utility of these tests,” Dr Lyman said.

Available genomic products range from tests that genotype a small set of genetic variants to those that provide whole genome sequencing. Currently, the most popular health-related consumer products rely on single-nucleotide polymorphism chips to simultaneously examine thousands of small changes found across the ge­nome. These typically target about 1 million sites of known genetic variations, at a retail cost of $200 to $2000.

Two Main Dilemmas
Dr Lyman sees 2 “dilemmas” presented by DTC testing: the “evidence” dilemma and the “provider” dilemma

DTC testing, he explained, “challenges current thresholds for the introduction of medical innovations.” That is, the availability of these tests should be based on professional recommendations founded on empirical evidence, not just on the tests’ technical feasibility or commercial potential, he said.

The provider dilemma pertains to the burden that DTC testing places on oncologists: to order tests of questionable clinical utility, to explain the results of tests already obtained, to correct the tests’ inaccuracies or patients’ expectations, to understand a variety of services, and to rely on the company’s own materials and information, he said.

“Many consumers of DTC genetic tests share the results with providers and believe it is their duty to interpret these,” he observed. “This is a real problem. It not only adds time to your day, it could compromise the physician/patient relationship as well as patient care.”

It Boils Down to a Mixed Message
“All this comes down to the mixed message that DTC testing sends,” he concluded. There are indications that DTC testing triggers an interest in cancer screening, such as colonoscopy, mammography, and prostate-specific antigen testing. However, should the tests actually prove valuable, their uptake will be among the wealthy and better educated, with little potential for uptake among the lower socioeconomic classes.

Company websites are complex and often unbalanced, which can lead to a misunderstanding of the reasons for the tests, as well as the results. DTC testing also has the potential to harm. In one study, for example, 15% of persons changed their medications as a result of testing.

Much of this is hypothetical, how­ever. “Currently, we have virtually no data on the actual utilization or impact on outcomes from these ap­proaches,” Dr Lyman said.

In addition to the need for evidence of the accuracy and utility of DTC genetic tests, oversight is needed; numerous committees and agencies have said so, according to Dr Lyman.

There is also consensus that the DTC industry would benefit from greater standardization, especially the development of a standard format for re­turning genomic data and for interpreting and reporting those data.

“The fundamental tension is how to enhance oversight to ensure public health and safety while still promoting personal genomics innovation and autonomy,” he said.

The current status of such oversight is “in limbo.” In 2011, the US Food and Drug Administration has been holding public meetings regarding DTC testing and having private dialogues with industry.

“In summary, we can agree that patients still require protection from misleading, false information; that medical device regulation must keep up with science and technology; and that the healthcare community re­quires more training in how to use the rapidly emerging genetic information,” he said. “A wide variety of genetic information is out there of varying usefulness.”

Meanwhile, one thing is certain: although these tests are proliferating, their price is dropping. The cost of whole DNA gene sequencing will be only approximately $1000.