Direct-to-consumer testing as consumer initiated testing: compromises to the testing process and opportunities for quality improvement

Background

Direct-to-consumer testing (DTCT) refers to commercially sold laboratory tests initiated by laypersons without the involvement of healthcare professionals [1]. Unlike in a traditional clinical setting, consumers, who are not necessarily patients, can test without first having a clinical consultation. Apart from home self-testing kits performed entirely by the layperson, laboratory tests are also available as DTCT modalities – either as ‘self-sampled tests’ where samples are ‘mailed in’ for laboratory analysis, or as ‘direct access testing’ (DAT), a test requested by the consumer, and samples collected and analyzed at a laboratory [2]. Depending on the jurisdiction, self-sampled tests and DAT may be offered by either or both medical and non-medical laboratories.

The DTCT market is expanding rapidly, growing 20 fold between 2010 and 2020 [3], and expected to worth US$6.32 billion by 2032 [4]. The most commonly cited advantage of DTCT is improving test accessibility and choice for consumers. Reducing delays, logistics, and costs associated with clinical consultation may in some cases overcome common barriers to testing [3, 5]. Emphasizing consumer choice at the test initiation stage can nevertheless overlook the complexity and quality control required in the remainder of the testing process. The all-encompassing term ‘DTCT’ also subsumes a large variety of testing products, glossing over the diversity in quality, testing modality, and type of laboratory involved, if any.

The rising popularity of DTCT have significant implications for laboratory specialists, who, in a traditional clinical setting, normally collaborate closely with clinicians and patients in a ‘brain-to-brain loop’ of communication and decision-making [6, 7]. The absence of clinicians in DTCT creates gaps in information flow. Any errors in test selection, pre-analysis, analysis, and post-analysis will eventually impact on consumers’ health outcomes, which the work of laboratory specialists is implicated. So too, are concerns about overutilization of healthcare resources through confirmatory testing and downstream clinical visits [2, 8, 9].

A growing number of DTCT are now conducted in non-medical, non-accredited laboratories, which are not regulated under the same performance standards applicable to medical laboratories. To avoid regulation as medical tests, some products are described as promoting ‘wellness’ and a ‘healthy lifestyle’ despite having obvious healthcare implications. Non-evidence-based tests or tests still under research and development are also being sold directly to the public in this way [10, 11]. Poor quality assurance and the use of unproven methods can lead to misdiagnosis and further use of non-evidence based treatments. These harms will affect the overall professional standards and public trust in laboratory testing [1].

The European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) Taskforce on DTCT is set up to advise the laboratory specialist community on this topic of growing importance. This opinion paper from the taskforce aims to:

1. Review the different DTCT modalities and identify various implications these have on the quality of the total testing process (‘brain-to-brain loop’)

2. Identify ways for laboratory specialists to improve the quality use and current practices of DTCT

3. Recommend clear definitions and dedicated regulation for DTCT to ensure consumer protection.

DTCT modalities and laboratory pathways

This section describes how different modalities of DTCT depart from the standard processes in the traditional clinical setting, and review the potential compromises these have on testing quality. In the case of self-sampled tests and DAT, further quality issues will arise if tests are processed in non-medical laboratories.

Figure 1 illustrates the ‘total testing process’ in the traditional clinical setting (Figure 1A), with the patient, clinician, and laboratory specialists being the three key human agents. In the so-called ‘brain-to-brain loop’ [6], optimal collaboration in communication and shared decision-making can contribute to reducing human and technical errors throughout the process, and ultimately enhance quality and effective care outcomes. Any steps that circumvent the loop, including substituting or omitting certain human agents or aspects of the process can leave caveats downstream [6].

Figure 1:

Brain-to-brain loop in traditional laboratory testing vs. three modalities of DTCT.

DTCT introduces a fundamental circumvention to the total testing process by making consumers the sole human agent responsible for almost all decision-making in testing. Often under-recognised are the differences between the degree of circumvention among the three different modalities of DTCT.

Home self-testing (Figure 1B) is the DTCT modality with the highest degree of circumvention, with the lay person performing the test entirely by themselves at home, without laboratory grade analysis and reporting, nor involvement of either clinicians or laboratory specialists. However, there are specific regulatory requirements and more stringent assessment criteria for these devices to off-set some of these limitations. In the EU, home self-testing devices fall within In Vitro Devices Regulation (IVDR) (EU) 2017/746 as ‘devices for self-testing with a medical intended purpose’, and most are assessed as having high personal risk, with moderate to low public health risk in class C, with some exceptions in class B and D.

Both self-sampled tests (Figure 1C) and DAT (Figure 1D) enable laboratory technology for test preparation and analysis. Apart from self-sampling by consumers in Figure 1C, all other processes in these two last modalities appear identical to laboratory analysis in traditional clinical setting. DAT in particular, is often assumed to be the least problematic of the DTCT modalities because it presents the fewest caveats to the testing process. DTCT advertisements often reinforce the fact that tests are conducted in ‘accredited’ and/or ‘medical laboratories’ to reassure consumers. However, from the context of the ‘brain-to-brain’ loop, the absence of clinician guidance in test selection and requesting will nevertheless influence the potential errors in the laboratory, and therefore final actions taken by consumers.

Some jurisdictions do not allow consumers and non-medical professionals to initiate testing in medical laboratories, such as the case in Belgium and Türkiye. Some medical laboratories, especially publicly funded hospital laboratories, are restricted to requests from GPs and other registered healthcare practitioners.

However, in many other jurisdictions such as Germany, France and Sweden, DAT have existed for some time, especially as ‘patient-requested testing’ to enable access to tests not covered in the healthcare system, hence paid for privately. The concern in recent years though, is that this model of test initiation has become commercialised as DTCT by business arms of private medical laboratories, and driving inappropriate test initiation by consumers (who are not patients).

A further concern is the growing number of DTCT analyzed in non-medical laboratories. While medical laboratories strictly process tests for medical purposes, patient care and healthcare circumstances, this is not the case for non-medical laboratories. Hence a question mark is placed around whether there is laboratory specialist input in Figure 1C and D, in the case when samples are processed in non-medical labs. For self-sampling devices (specimen receptacles) with a medical purpose, the manufacturer can obtain class A CE-IVDR label through self-certification. However, devices without a clearly defined medical purpose can bypass IVDR, and which have less stringent requirements for analytical and clinical performance studies [12]. Observably, some DTCT that are processed in non-medical laboratories claim to be ‘ISO accredited’. However, this may be for ISO 17025 or ISO 9001 only, which are not the same high standard required of ISO 15189 accredited medical laboratories.

Circumventing the total testing process: potential benefits and harms of DTCT

The different modalities of DTCT and the type of laboratory used will have different circumventions of the total testing process. These come with both potential benefits and harms, which are broadly compared in Table 1 and discussed in this section.

Improving quality use of DTCT: what can laboratory specialists do?

Our review suggests the most significant issues for consumers occur at the start and end of the process of DTCT use, where traditional clinician-patient dialogue is absent, and where commercial interests and other sources of information may be driving test utilization. Any inappropriate test selection will affect the quality of the rest of the loop. Laboratory specialists may inadvertently become implicated in these testing errors.

Although pre-analytics and analytics are usually very robust stages of the testing process with a high level of standardization when performed in a medical laboratory, in DTCT these stages are the least transparent to consumers, especially in the case of tests analysed in non-medical laboratories. DTCT DAT and self-sampled testing highly resemble traditional clinical testing, yet lack the many check-points for quality control. These crucial attributes of testing, and the accreditation differences between medical and non-medical laboratories are seldom communicated to consumers at the point of purchase.

To improve quality in the use of DTCT, the laboratory specialist community can take action to address these shortfalls in the testing process. First, laboratory specialists should safeguard and strengthen testing processes within the traditional realm of the laboratory, and advocate for broader legislation and quality control of DTCT. Second, laboratory specialists must bring their influence into the front and back ends of the testing process by advocating for better consumer support, despite this being beyond their traditional role. By communicating the importance of quality in test selection, and requesting, pre-analytical and analytical procedures and by highlighting the need for actionable results, laboratory specialists can ensure a stronger whole-system approach to quality DTCT use. Table 2 outlines a number of quality improvement recommendations.

Clear definition and dedicated regulation

Currently DTCT is inadequately and inconsistently regulated. Without dedicated regulation, they are governed as an ancillary within different sets of frameworks. DTCT home self-testing kits are regulated with other self-tests that are healthcare professional initiated, under IVDR ((EU) 2017/746). For self-sampled testing and DAT, laboratory accreditation and regulation are focused on laboratory procedures and facilities, but not ‘who’ initiates the testing.

Part of the issue is the absence of a precise definition of DTCT that clearly encompasses the variety of modalities, products and testing pathways. By focusing on ‘consumer initiation’ as the defining characteristic of DTCT, the need to protect and support consumers as the main decision-makers in the testing process can be properly addressed. ‘Consumer initiation’ as the shared characteristic of all DTCT would encompasses the diverse modalities and the type of laboratory used. This would address the regulatory gap for DTCT described as ‘non-medical’ tests, as well as the inconsistency of regulations across different jurisdictions. A “Consumer Initiated Test (CIT)” label should exist alongside the ‘CE-IVD’ mark, and tests lacking an evidence-based clinical basis should be clearly labelled.

A clear definition based on consumer initiation would reduce confusion with tests for patients already within medical care, such as near-patient testing, self-collected screening programs, or patient self-monitoring, which are healthcare professional-initiated. Misleading marketing practices contribute to this confusion. For example, although urine glucose test strips can be used for monitoring diabetes patients, they are sold as DTCT for ‘diabetes screening,’ which is outdated and not evidence-based. Similarly, self-sampling kits for bowel cancer detection, typically used in government or healthcare organization screening programs, are now sold commercially as DTCT to consumers not participating in such programs.

Other recommendations

The DTCT industry and suppliers should take more responsibility in reducing errors, enhancing benefits, and supporting consumers. Establishing advertising and business practice codes can promote ethical practices, reducing consumer harm and overutilization of healthcare resources. Key issues for the industry include improving balanced, scientific information in advertising, ethical use of disclaimers, and preventing data and privacy breaches [1].

Improving consumer decision-support in DTCT should be prioritized. Consumer groups should develop strategies to enhance informed consent before monetary transactions. Consumer-led solutions for incident reporting, product co-design, record management, and participation in real-world trials can ensure greater end-user involvement in the DTCT industry and support consumer empowerment.

Finally, further research on DTCT use and outcomes is needed. Documenting end-user handling of testing by laypersons at home and outcome-based research would monitor the utility of DTCT.

Conclusions

The movement away from traditional clinical testing to consumer initiated testing is purported to empower, not harm consumers; and where testing or sample collection takes place at sites outside of the clinical laboratory and gives consumers more control of the process, this should complement, not add burden to the healthcare system.

The diversity of DTCT modalities and the uneven way in which they are regulated causes confusion for consumers and health professionals alike. This article provides a clear explanation of the various testing pathways and the implications for quality standards and eventual outcomes.

By identifying the key circumvention made to the brain-to-brain total testing process by DTCT, this article highlights the need to look beyond the attributes of test accessibility and personal choice. Ensuring higher quality in the whole testing process must be paramount. As consumers are the main decision-makers when purchasing and conducting these tests, ‘consumer initiation’ must be the defining characteristic of DTCT in the development of strategies that support them. Establishing dedicated regulation will be a right step in this direction.

Laboratory specialists have a role in advocating that consumers benefit in areas where emerging markets and laboratory medicine intersect. As DTCT has clearly departed from the processes and jurisdictions of the traditional clinical setting, so must the efforts of laboratory specialists expand, and advise on best practice in the use of these tests and to maintain acceptable levels of quality in these new consumer-initiated contexts.