Direct-to-consumer genetic testing — clinical considerations

Health-related direct-to-consumer (DTC) genetic testing enables consumers to test for changes in their genome that may assist with diagnosis or screening for particular disorders or traits, and may help predict future disease or response to treatments. DTC testing allows this to be under the consumer’s control and, at least initially, does not involve a medical practitioner in ordering or interpreting the test. However, this control is traded off against uncertainty about how clinically relevant the tests or their results are for consumers and their families. There are important ethical and legal considerations, particularly if these tests are ordered from overseas laboratories. Consequently, for medical practitioners, DTC testing poses the problem of how it can be assimilated into practice.

A 2003 report by the Australian Law Reform Commission predicted that the number of DTC testing laboratories would grow from the small number operating at the time.1 By 2010, there were over 30 DTC companies, mostly in the United States, whose services were made viable by the robustness of DNA samples sent in the mail, and the growing numbers of available human genetic tests.

The landscape of DTC genetic testing companies is now more complex. Today, there are fewer genetic testing laboratories classified as DTC (about 20) because some companies advertise their DTC tests through the internet, but require a medical practitioner to order them.2 These are not true DTC testing facilities, although they pose some concerns, as will be noted later. It is also important to distinguish DTC genetic tests offered through providers in Australia from those offered by overseas companies, with consequences for regulation and consumer protection.

Advocates for DTC genetic testing argue that it allows individuals to manage their health more proactively. No one would disagree with this goal. The problem is how DTC tests are advertised and delivered. Opponents of the DTC approach highlight the risks of unproven products being marketed as providing information on clinically significant genetic disorders or traits, where consumers may not be assisted by professionals in assessing the suitability, accuracy or significance of the genetic tests.

Another attraction for consumers of DTC testing, particularly when it is available over the internet, is convenience and greater autonomy in the health system. Traditional genetic testing services provided in Australia are predominantly delivered through public hospitals and can be difficult to access, and they may not be funded through Medicare. In accessing these established services, patients take on a traditional submissive role, which is increasingly at odds with moves toward a doctor–patient collaborative model of care.

DTC genetic testing companies advertise tests for a number of health-related disorders. Sometimes, they provide consumer information about the evidence underpinning the test. For example, one company distinguishes tests based on established research reports, considered to contain reliable findings, or preliminary research reports, considered by the scientific community as needing confirmation.3

Associating a genetic test with medical research gives it some legitimacy but does not indicate whether it can be successfully translated into use in a clinical setting. A term such as “reliable” used by the company to describe the findings of established research reports is imprecise when determining the clinical value of the test. It is even more difficult to see any justification for the use of preliminary research reports in advancing patient care (Box 1).

In response to criticism, companies have relabelled their DTC genetic testing products as “information” rather than as tests for clinical decision making, using various disclaimers. In its sample result for a genetic predisposition DNA testing report, an Australian DTC company (certified to the standard ISO 17025 — see below) states:

Regulatory bodies initially did not consider DTC genetic testing as it was relatively low profile. The DTC industry achieved some notoriety following two enquiries by the US Government Accountability Office, which showed fraudulent practices by some DTC companies.9,10 The United Kingdom’s Human Genetics Commission (HGC) has published recommendations on standards to promote self-regulation, as have the Human Genetics Society of Australasia and the National Health and Medical Research Council of Australia through the production of guidance and information documents. However, the HGC document was criticised because recommendations alone are unlikely to change behaviour without some oversight or incentive to comply.11

A separate regulatory issue is truth-in-advertising. Presumably, DTC companies have received legal advice that selling a product as “information” rather than a medical test is the appropriate way forward. Nevertheless, some websites appear to imply a link between genetic testing, “information” and health outcomes, so the issue of potentially misleading advertising may need to be revisited.

DTC genetic testing will continue to evolve. Linking company services with the requirement for medical practitioners to order the tests is a step in the right direction, but only if medical practitioners have the confidence and eHealth-based tools to determine what tests are clinically relevant and the significance of results. For this it will also be necessary to know about a test’s analytic validity and clinical utility.