Evaluating the evidence: direct-to-consumer screening tests advertised online

Direct-to-consumer (DTC) availability of medical products is expanding rapidly. DTC marketing has broadened beyond traditional television, print and radio media onto the Internet. Consequently, DTC advertising potentially reaches millions of consumers searching online for health-care resources.¹ Whereas pharmaceutical advertising has traditionally dominated the DTC medical marketplace, online DTC advertising has now expanded to include medical tests of questionable efficacy, safety and utility for disease screening and diagnosis. Previous studies have highlighted the controversial marketing and sale of genetic susceptibility testing,² but little attention has been paid to the plethora of non-genetic medical tests available DTC that are being offered for ‘screening’ purposes.

The medical community defines disease screening as ‘the systematic application of a test or inquiry, to identify individuals at sufficient risk of a specific disorder to benefit from further investigation or direct preventive action, among persons who have not sought medical attention on account of symptoms of that disorder’.³ This definition necessitates a pretest evaluation with screened individuals to ensure the absence of symptoms as well as a quantification of each individual's risk of disease.

There are generally nine factors that contribute to the usefulness of a specific screening test: (1) the disease being screened for is well defined; (2) the incidence/prevalence of the disease being screened for is known; (3) the disease being screened for will lead to morbidity and/or mortality; (4) early management of asymptomatic individuals is more effective than management at clinical presentation of disease; (5) the screening test is simple and safe; (6) the test performs well with acceptable rates of false-positive and false-negatives; (7) the health benefit of screening justifies test costs; (8) there is access to resources for further diagnosis and treatment; (9) follow-up management after diagnosis is agreed upon and acceptable to both medical professionals and patients.⁴ To ensure safety, meeting these criteria requires screening outcomes evaluation and evidence-based support for screening test use before making testing widely available for screening purposes.

Companies advertising online and offering DTC medical tests for screening purposes are creating unique safety risks for any person, nationally and globally, with access to the Internet. While aiming to empower consumers by providing private medical testing without professional consultation, these companies may be marketing unproven or harmful medical testing, resulting in poor health outcomes. By definition, where a pretest evaluation with consumers is absent, these DTC medical tests cannot be properly identified as ‘screening’ tests despite their advertised purpose and consumers are at risk for making ill informed decisions regarding medical care.⁵ Furthermore, similar to online DTC drug advertising, medical test risk and benefit information given to consumers may be misleading, inaccurate or incomplete. Several studies examining DTC medical tests for cardiovascular disease, genetic testing and imaging services have highlighted the potential risks involved in offering medical testing DTC without medical professional oversight.^6–8

The DTC medical testing industry is fueling medical consumerism growth, unnecessary medical interventions and downstream resource waste. For example, a recent study reported 22 clinical cases of patients arriving self-referred or physician-referred to geneticists due to results of DTC genetic testing.⁹ The costs of initial genetic testing for each of these 22 patients was as high as US$3120, while the cost of subsequent follow-up care (including visit to genetic counselor, referrals to specialists and referrals for additional diagnostic testing) ranged from $40 to $20,604 per patient.⁹ Not surprisingly, with the exception of BRCA 1/2 testing for breast cancer susceptibility, 64% of DTC genetic tests performed in these case reports were considered not clinically useful by genetic health-care professionals seeing these patients in follow-up.⁹

In response to powerful concerns related to DTC availability of genetic testing, the Food and Drug Administration (FDA) issued warning letters to companies offering DTC genetic testing.^8,10 Further, recent recommendations for DTC genetic and cardiac testing have appropriately included requiring that testing be FDA approved before use/marketing, outcomes research be conducted before public availability, that testing be offered through health-care professionals and that counselling be offered pre-test and post-test to guide consumers toward appropriate care and follow-up.^6,11 Despite these efforts, concerns remain regarding the ability of the FDA to regulate the DTC industry, given its limited mandate, inadequate funding and staff, and reluctance of US legislatures to infringe on commercial rights of free speech.¹²

It is important for global health, health-care cost containment and public safety that DTC medical testing be critically evaluated, the scope of the problem outlined and further policy pursued to regulate a currently unfettered industry that may be exploiting unproven medical testing at the expense of patient and consumer safety. In this study, we identify medical tests advertised online and available DTC, outline the evidence-base for use of available DTC testing, evaluate the availability of counselling and follow-up offered by DTC testing companies related to DTC testing services, and suggest regulatory reform and coordination among various stakeholders to address the relevant issues.

Twenty DTC Medical Testing Companies were identified (Table 1); 19 (95%) websites either do not offer or do not indicate whether they offer pre-/post-test counselling, or follow-up (Table 1).

Table 1 Identified direct-to-consumer testing companies and parameters of offered services

A total of 127 DTC medical tests were identified (Table 2). In several cases, medical test components were not decipherable from website descriptions and therefore listed by panel name (e.g. ‘antioxidants’, ‘female hormones’, ‘male hormones’ and ‘heavy metals’). Medical tests include a host of body fluid and imaging studies. Importantly, our searches did not reveal many types of DTC genetic testing that have been highly publicized in recent years.

Table 2 Identified direct-to-consumer medical tests

Of 127 medical tests, 63 (50%) have USPSTF or relevant specialty society screening guidance, 19/127 (15%) have ≥1 Supported recommendation for screening use; double this number (38/127, 30%) were given recommendations to avoid use in specific target group(s) selected for testing (‘Against recommendations’); and 27/127 (21%) carry ≥1 statement of Insufficient Evidence of value.

A detailed review revealed that only 4/127 (3%) are Supported without any Against or Insufficient Evidence recommendations (Table 2). The remainder (N = 123, 97%) had only recommendations Against (N = 23, 18%), statements of Insufficient Evidence (N = 15, 12%), multiple recommendations (N = 21, 17%), or No Guidance (N = 64, 50%). Virtually all DTC medical tests are not clearly supported for screening in the general population.

Tests are further categorized in Tables 3–5 by published guidance. Table 3 lists the 19 DTC medical tests carrying any Support recommendation. Most (15/19, 79%) of these also carry recommendations Against use and/or statements of Insufficient Evidence. For example, USPSTF recommends colon cancer screening in individuals aged 50–75 but recommends against screening for individuals over age 76. Moreover, even for the 4 Supported tests without Against or Insufficient Evidence recommendations, guidelines clearly limit Support recommendations to specific target populations. For example, breast cancer screening is USPSTF Supported, but only for average risk women over 49 and younger high-risk women. Therefore, we count these tests as Supported, but the guideline clearly excludes many other target populations (e.g. low-risk women aged 35).

Table 3 Direct-to-consumer medical tests with guideline support for use in screening

Table 4 Direct-to-consumer medical tests with guidelines against use in screening

Table 5 Direct-to-consumer medical tests with insufficient evidence for use in screening

Table 4 lists the 38 medical tests with ≥1 recommendation Against use in screening; 19/38 tests (32%) carry specific recommendations Against use in all target population groups, while another 10/38 tests (37%) are advised Against for all low-risk patients. For example, guidelines recommend Against carotid artery stenosis screening for all persons, while AAA screening is Supported for men age >65 who have smoked but recommended Against for all women. Within this group of tests, most (N = 29, 69%) are recommended Against for either all individuals or all low-risk individuals.

Of the 127 medical tests, 29 (23%) medical tests carry ≥1 recommendation of Insufficient Evidence to inform use in screening (Table 5). Some may have arguable clinical utility but evidence-based guidance suggests that the available data are insufficient to determine whether screening benefits outweigh risks (e.g. osteoporosis screening in men, hyperlipidaemia screening in young persons and diabetes screening in persons without hypertension).

Finally, 64 (50%) identified DTC medical tests have no published guidance from USPSTF or specialty societies (Table 6). These also involve body fluid testing and imaging studies, spanning the scope from melatonin levels and antioxidant screening through virtual bronchoscopy and thermography.

Table 6 Direct-to-consumer medical tests with no guidance for use in screening

Though recent commentary has focused on the implications of DTC cardiac and genetic tests, the patient safety threat posed by the breadth of available DTC medical tests has not been adequately addressed. Furthermore, probably due to recent FDA warnings targeting DTC genetic testing companies, access to DTC genetic tests has become much less appreciable. In fact, most companies we identified did not specifically advertise or offer the range of DTC genetic susceptibility tests previously reported in the literature. However, we have identified a large scope of non-genetic DTC medical testing and, as such, regulatory oversight in combination with non-governmental and professional society intervention is critical in future efforts.

Online advertising and access to DTC medical products has made screening tests readily available to consumers without the need of a prescription or medical consultation and without adequate clinical follow-up. The scope of DTC medical testing advertised online is broad and most available medical tests have limited evidentiary support. Companies offering DTC medical tests fail to provide for informed consent, pre-/post-test counselling or follow-up care, creating substantial risks to patient safety and legal concerns. Reform is needed to address this growing public health risk.