Article Text

Download PDFPDF

Student essay
Personal utility is inherent to direct-to-consumer genomic testing
  1. Matthew Wai Heng Chung,
  2. Joseph Chi Fung Ng
  1. School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, Hong Kong
  1. Correspondence to Joseph Chi Fung Ng, School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, University of Hong Kong, 1/F, Laboratory Block, 21 Sassoon Road, Pokfulam, Hong Kong, Hong Kong; cf1994{at}hku.hk

Abstract

People for and against direct-to-consumer (DTC) genomic tests are arguing around two issues: first, on whether an autonomy-based account can justify the tests; second, on whether the tests bring any personal utility. Bunnik et al, in an article published in this journal, were doubtful on the latter, especially in clinically irrelevant and uninterpretable sequences, and how far this claim could go in the justification. Here we argue that personal utility is inherent to DTC genomic tests and their results. We discuss Bunnik et al's account of personal utility and identify problems in its motivation and application. We then explore concepts like utility and entertainment which suggest that DTC genomic tests bring personal utility to their consumers, both in the motivation and the content of the tests. This points to an alternative account of personal utility which entails that entertainment value alone is adequate to justify DTC genomic tests, given appropriate strategies to communicate tests results with the consumers. It supports the autonomy-based justification of the test by showing that DTC genomic test itself stands as a valuable option and facilitates meaningful choice of the people.

  • Genetic Screening/Testing
  • Genetic Information
  • Regulation
  • Predictive Genetic Testing

Statistics from Altmetric.com

Introduction

Direct-to-consumer (DTC) genomic testing is currently under the spotlight of the genome science industry. Recently in this journal we saw two battlefields related to this: first, argument regarding an autonomy-based case for justifying the tests;1 second, a warning to limit ‘personal utility’ as a justification in these tests.2 Vayena covered the first issue. She quoted Joseph Raz's account of autonomy, which emphasised choice over a range of valuable options, and argued that (A) claims that entailed manipulation of consumers by the test providers were weak against test provision, as the concerns were not unique to DTC genomic tests, and; (B) by considering plural utilities instead of only medical actionability, DTC genomic tests helped in expanding the range of worthwhile options, for example, identifying familial relationships and changing life plans in view of possible medical conditions.1 Bunnik et al raised the second issue. They argued that clinically irrelevant or uninterpretable data could not convey information and be put into reasonable use, and thus posited no utility, let alone personal utility. They recommended experts be invited to judge personal utility case by case.2

While Vayena has provided a short yet convincing account for (A),1 the issue of personal utility still seems debateable, especially on whether utility inherent to the tests exists, and the scope of such utility. We believe revisiting the concept of utility and the nature of a DTC test order could illuminate the debate and further characterise this line of argument that is truly specific to DTC genomic testing. This motivates our paper, which aims to show that personal utility is inherent to these tests. We feel that Bunnik et al fail to highlight the uniqueness of DTC genomic tests, the way of which we shall discuss in the section to follow. We then examine concepts of utility and the content of a DTC test order to see how an account of personal utility should respond to these specificities. These will inform revision of personal utility to best position it in the context of DTC genomic tests. It will back up Vayena's autonomy-based account by directly showing utility in applying the test results, and inherent to the tests.

Problems with the current model

Genomic testing is a challenging issue as both ethical justification and appropriate policies are critical for smooth integration into healthcare. We aim to justify a sound ethical account that settles major justificatory disputes, and informs actionable policies that could be taken to regulate its provision and monitor its side effects. The current model, which limits the extent of personal utility in justifying DTC tests by claiming clinical utility as a prerequisite, is still at a distance from this. Notably, its motivations and implications are problematic.

Any effort to demerit non-medical information is necessarily driven by an intuition that biological sequences have a special status in dictating our lives. As a result of such intuition, genomic testing is positioned to serve only interpretable medical traits, predict clinically relevant phenotypes to guide diagnosis and treatment. This prevents any unforeseen and undesirable consequences that stem from its misuse. It is also characterised to be costly and scarce—otherwise it makes little sense to discourage generation of data that may at present be clinically irrelevant. These could be refuted by two key facts: first, all human traits necessarily involve some influence from our genome. Therefore a non-medical motivation for testing makes biological sense. Second, in a DTC context the tests are funded by the consumers themselves, and involve no public expenditure in their provision. Any agents apart from the consumer have no role in forbidding the tests based on their judgement on the cost-effectiveness of such tests as long as consumers request the tests at their own will. Therefore concerns to justify limitation to clinically relevant and interpretable traits are weak. Genomic testing is a reasonable means to pursue if the consumer wishes to know about any of her biological traits. In this sense, DTC genomic tests are just like any commercial product, where rational consumers buy the tests to satisfy their wants, extracting any information they like (either medical or non-medical) out of their genome. The key to justify them can be regulation against misuse (eg, disclosure of results without consent), rather than intervention of their provision or access.1

Besides the motivation of this view of personal utility, problems also lie in policy implications of such a view. Bunnik et al2 argued against moral justification of DTC genomic tests entirely by personal utility, as such tests often are inappropriate means to their intended ends. To quote their examples, ACTN3 genotyping could not provide clinically valid recommendations for laymen on sport types they should take up; hereditary DNA testing for BRCA mutations could predict little about breast cancer risks in individuals without any family members affected by the disease. In both cases, they argued, the tests were not oriented to address the prescribed question.2 According to them, if one desires phenotypical prediction, genomic tests might not be the ideal means to seek for, and thus personal utility does not exist in the tests. Yet in a DTC context we could not neglect (and Bunnik et al have also acknowledged) consumers who order tests solely for ‘entertainment’. In these cases, the data generated from the genomic tests are indeed their intended end: it might imply little if these results are still biologically uninterpretable, as many just desire ownership of their actual genetic make-up. They simply claim genetic information as their property, and the right to such information, as a ‘natural’, ‘fundamental’ right. This phenomenon has been noted empirically by a number of qualitative analyses on comments left by petitioners supporting DTC genomic tests, and personal stories of test takers on websites of DTC providers.3–5

Such dichotomy of ends, at its simplest form, presents important questions: how could we judge which end the consumer is pursuing when she orders a genomic test? Who has the responsibility to judge, and on the basis of what does this responsibility arise? Moreover, if genomic testing really is an inappropriate means for phenotypical prediction, then what should we do? Should we restrict her access to the genomic tests and the results? The ethicist is committed to answer all these if she shuts the door to justify genomic tests by claiming personal utility.

Specifically, restricting access to genomic tests does not seem favourable in light of a general trend towards personalised care. As we foresee increasing involvement of the people in managing their own health, it follows to devote effort in empowering them for this, ideally improving their understanding on tools like genomic tests which can convey important biological information.6 To sum up, the ‘limiting’ definition of personal utility seems to be weak both in motivation and in action. To inform an ethical account that points to appropriate policies, we need a dedicated discussion on utility and the nature of DTC genomic tests.

Utility in justifying DTC genomic tests

Many of us understand the term ‘utility’ in the sense of economics. We see utility as a measure of satisfaction upon consumption (or, an action) in relation to a want. It constitutes a central position in rational choice, as we value each option's utility and choose the maximising one. This has a close connection with utilitarian ethics which, when applied to our case, posits genomic testing be justified when the benefits outweigh the costs it brings.

Our challenge is to respond to the claim that genomic tests bring benefits that are irrelevant to the consumers' wants. More precisely, such wants are not pursued because some ‘mistaken’ wants occupy the consumers, which lead them to desire (wrongly) for genomic tests and claim that the tests bring them personal utility. The above neglects the positive utility of free personal choice, which is important in utilitarian thinking.7 The utility of genomic testing essentially measures the entire course of seeking tests, taking them and receiving the results. When one is committed to maximise consumers' interests, she still has to consider the utility in going through the means even though this may not achieve any biological ends.

The above deals with the content of personal utility, but the issue of mistaken wants is also pertinent in its application. If absence of personal utility, so to speak, entails unjustified DTC genomic tests, it fails to result in full realisation of true wants. To realise one's true wants, one needs more than pure desire. She needs first-hand experiences on all the available options, with information and facts about all of them.8 ,9 If we repress the mistaken want, the consumers will lose the chance to experience this intended option of their own, and this is indeed detrimental to their realisation of true wants. The consumer still has not acquired the necessary knowledge and experience that are essential in making the right choice to realise her true end of phenotypical prediction. On the contrary, over half of the DTC genomic test-takers' confidence in their genetics knowledge changed (deteriorated for many) after pursuing the test.10 Thus consumers, upon experience, are able to realise the limitation of DTC genomic tests, adjust their expectations and modulate their beliefs in relation to what they seek to know. While we also agree that recognising personal utility may only reflect choice-worthiness but not necessarily maximise her interest (of phenotypical prediction),9 the autonomy she exercised (if not from the ‘entertainment’ she enjoyed) indeed bears personal utility that adds positively to justifying DTC genomic tests. The remaining question, though, would be to examine whether the content of the tests, that is, any ‘entertainment’ value the consumer claims to enjoy from DTC genomic tests can also add to the justification, and how this can rescue DTC tests while safeguarding consumers' interests.

Entertainment

In our debate entertainment presents itself as an important, yet difficult to analyse, concept. It is important because intuitively it is the personal utility of DTC tests that we have been arguing for. It is the sense of satisfaction gained from the tests that leads to her claiming personal utility of these tests. Such satisfaction can arise from whatever motivations the test taker personally has, be it an altruistic contribution to advance health research, or simply the curiosity on their own genomic sequence. It is difficult because entertainment is intrinsic and intangible: every individual is bound to be entertained by different aspects of the test, illustrate such satisfaction using different normative terms, and the exact content of these terms can vary. Thus if we view entertainment in this way it appears clear that advocacy of expert judgement to determine personal utility proposed by Bunnik et al refutes itself: if entertainment value is concerned, it stands resolute as a personal utility, requiring nobody to judge. It also fundamentally renders external judgement impossible due to its intrinsic nature. For an external agent to accurately understand one's representation of entertainment is impossible. If one insists, it would galvanise another debate on the expert's responsibility, and the practicality of such policy.

Although this is a highly heterogeneous concept, DTC genomic testing being a ‘fun’, entertaining experience is a strong empirical claim that supports its integration into the concept of personal utility in DTC tests. DTC test takers do feel positive, not from any clinical relevance in their tests, but from the entertainment and the sense of ownership that DTC tests bring and allow. A Swiss study on customer experience gave evidence of entertainment as the chief motivation in going for DTC genomic tests.11 Eighty-eight per cent of respondents admitted curiosity as their motivation, and some indicated altruistic purposes as contributing to research, both in the context of realising that results may be uninterpretable. A US-based survey of early adopters of personalised genomics yielded similar results: curiosity was the main motivation to undertake personalised testing, with 81.2% of respondents regarding this motivation as a very important one; similarly 56.2% of respondents took altruistic purposes as a very important motivation to test.12 The aforementioned content analyses of comments made by test takers also identified curiosity and altruism as two major themes in test takers' personal stories related to DTC genomic tests.3 Including the many more studies not described here, the sense of ownership over a high-resolution view of themselves, and the altruistic participation in research clearly bring positive experience to consumers. This depicts entertainment as a utility in a commercial setting going beyond the interpretability of results, of which the current model accentuates as the prime hindrance to be overcome before justifying the tests.

Some might feel that such liberal conception on the relevance of entertainment as a legitimate motivation to take DTC genomic tests is excessively laissez-faire: a similar form of argument can indeed justify anything else. It is important to note that we are arguing for giving entertainment a more important role in determining personal utility of DTC tests, but not that entertainment is a sufficient condition to justify the tests. For a case for permissibility there exist many other points we have to consider, for example, whether claiming personal utility of the tests poses harm to others, whether this threatens our own thoughts and actions to achieve higher goals in life, etc. Till now we have only advocated a view which places personal utility as a reasonable claim that customers of the test can make. We think, though, that the claim of personal utility is a compelling argument for justifying DTC tests, and given it is weighted against the costs and harm of providing and taking the tests, it could well be justified. Specifically, some worry that allowing entertainment to be a stand-alone component of personal utility in justifying DTC genomic tests may increase societal cost, for example, test takers may consume more healthcare resource in consulting physicians to interpret DTC test results. We shall examine this argument in the next section.

Alternative account of personal utility and related policy issues

We have built a case against the narrow conception of personal utility of DTC genomic tests, by identifying problems in the motivation and implication of such a claim, and revisiting the concept of utility, both in its content and its application, and how the entertainment value that DTC genomic tests bring to the consumer can form a critical part of personal utility and stand as an end itself. We therefore wish to modify Bunnik et al's account of personal utility, which posits that genomic tests are said to have personal utility only if they yield success in phenotypical prediction. We put forward positive entertainment value as another criterion for genomic tests to have personal utility. Personal utility in DTC genomic tests exists if at least one of these criteria is satisfied. This account of personal utility has the following strengths: first, it is philosophically informed, by a recognition of autonomy in ordering the tests, and a treatment on conflicts among notions of (mistaken) wants, desires and interests in life which position the tests as opportunities to help people acquire experience and construct knowledge to improve future decisions. Second, it is also practically actionable, responding appropriately to the nature of DTC tests. By treating DTC genomic tests just as any other commercial product, we put autonomy at the consumers and responsibilities to properly communicate findings at the companies. This reflects the reality of such tests as initiated by consumers and processed by experts. Our account of personal utility implies that DTC genomic testing itself stands as a valuable option for consumers seeking biological interests, be it motivated by medical reasons or pure entertainment, thereby strengthening Vayena's Razian autonomy-based case to justify DTC tests.1

A consequence of widening the concept of personal utility to include entertainment has to be examined, that is that such a broad view of personal utility opens the door to much more DTC genomic tests being taken, resulting in increased physician consultation.13 Bloss et al have noted that this tendency to share test results with physicians led to more screening tests being done among DTC test takers.14 One might question whether increase in societal cost is acceptable when we widen the scope of personal utility.

Our response is as follows. First, such societal burden partly depends on the presentation of results, of which the DTC test providers do have incentives to improve as part of their services. In this sense the narrowing of societal costs is possible as an inherent motivation from the test providers. Second, consultation with physicians can improve health knowledge of the test takers, and it is important that they (and more broadly, the general public) get to know it is bound to have uncertain, probabilistic health effects with regards to genetic traits.15 ,16 If health consultations can really achieve this, the societal costs are indeed acceptable to bear, and would bring about an overall benefit to many. The question remains as to whether we have equipped physicians with the adequate knowledge to explain genomic methodologies and findings—this indeed is a necessary cost to bear, considering the critical involvement of such knowledge in a wide array of diseases,16 ,17 and health promotion as a recognised responsibility of the physicians.18 Third, many other practices are still permissible despite their potential to increase healthcare burden. Consider over-the-counter (OTC) medications, which do increase physician consultation as noted.19 OTC drugs or even health supplements directly impact on health and diseases, and are taken by many members of the general public. If these are permissible on grounds of societal good and costs, DTC genomic testing, as an optional test that is taken entirely out of voluntary motivations, should not impact much on societal costs that demand a ban.

Therefore the key of facilitating DTC genomic tests is to communicate with consumers well on the principle of the tests, implications of the results and the aetiology of conditions under testing. This, without depriving consumer autonomy, prevents false conception on the potentials and risks of DTC genomic tests, allows better expectation management and easier interpretation of test results, maximises personal utility and brings the best consumer experience. Strategies to achieve this demand creativity and output from multiple disciplines. Efforts can be made to tailor disclosure of results. Strategies should vary with the degree of medical relevance and the type of test.1 ,20 In order to maximise utility and augment positive influence of DTC tests by matching customers' needs with technical support from test providers, behavioural economics-oriented approaches can be implemented in the disclosure procedures. These approaches aim at adapting procedures of the test to our understanding of consumer behaviour. These may include defaulting disclosures of only foci of higher importance, demonstrating competing risks (as opposed to absolute risks) to scale down ambiguity and setting up reward systems to create incentives for behavioural change.21 In the long run, progress should be made in education in terms of information provision a priori, genetic counselling a posteriori, and promotion in schools and the public. This can boost genetic literacy both in and out of the testing context.

Conclusion

The definition of personal utility as an extension of clinical utility without consideration of consumers' entertainment value, which we have been arguing against, is a weak one as we have shown. Notably the premise on which it is built, which posits the special status of biological sequences as mysterious and powerful determinants of life, is more of a sentiment. We shall soon understand the true meaning each gene segment entails, and make appropriate inference of our genomic sequences to understand biology, predict phenotypes and address medical treatment. Indeed it is becoming clear to us that phenotypical control is an interplay between factors including but not limited to genotypes. This implies a limit to look for clinical utility in genotyping: it may not tell us so much about ourselves as we think. Such a view that acquires clinical relevance as part of the evaluation of genomic tests instead of their entirety supports our revision of the concept of personal utility. We have shown that personal utility indeed is inherent to DTC genomic tests. Venturing from Vayena's autonomy-based case,1 the results bring meaningful applications personal to the consumers, and the test itself has value. This strengthens Vayena's account for permissible provision and access of DTC genomic tests upon sound regulation.

References

Footnotes

  • Contributors JCFN conceived and initiated the project. The two authors contributed equally to literature search, review and analysis. Both were involved in drafting and reviewing the manuscript.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Other content recommended for you