In ethical and regulatory discussions on new applications of genomic testing technologies, the notion of ‘personal utility’ has been mentioned repeatedly. It has been used to justify direct access to commercially offered genomic testing or feedback of individual research results to research or biobank participants. Sometimes research participants or consumers claim a right to genomic information with an appeal to personal utility. As of yet, no systematic account of the umbrella notion of personal utility has been given. This paper offers a definition of personal utility that places it in the middle of the spectrum between clinical utility and personal perceptions of utility, and that acknowledges its normative charge. The paper discusses two perspectives on personal utility, the healthcare perspective and the consumer perspective, and argues that these are too narrow and too wide, respectively. Instead, it proposes a normative definition of personal utility that postulates information and potential use as necessary conditions of utility. This definition entails that perceived utility does not equal personal utility, and that expert judgment may be necessary to help determine whether a genomic test can have personal utility for someone. Two examples of genomic tests are presented to illustrate the discrepancies between perceived utility and our proposed definition of personal utility. The paper concludes that while there is room for the notion of personal utility in the ethical evaluation and regulation of genomic tests, the justificatory role of personal utility is not unlimited. For in the absence of clinical validity and reasonable potential use of information, there is no personal utility.
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Over the past decade, commercial companies have been marketing broad genomic tests that estimate genetic susceptibilities to various types of complex diseases in adults (http://www.pathway.com) or screen for carrier status for recessive monogenic disorders in prospective parents (http://www.counsyl.com). Some of these tests contain risk estimates for non-medical information as well, such as information about ancestry, paternity or other phenotypical traits, such as freckling and eye colour (http://www.23andme.com).[i]i Broad genomic ests have given rise to ethical and regulatory discussions, in which concerns are expressed with regard to quality assurance, psychological and social risks and implications of testing, and informed consent. Moreover, commercially offered genomic testing does not appear to lead to any health benefit.1 Lately, however, health benefit no longer seems to be prerequisite to what is considered a morally responsible genomic testing offer. Other, non-clinical benefits are gaining in importance.
In ethical and regulatory discussions of emerging genomic testing applications, the notion of personal utility has been mentioned repeatedly,2 ,3 often in a normative manner. Sometimes it is used as a moral justification of direct access to commercially offered genomic testing,4 or as a basis for a moral claim right to feedback of individual genomic test results in the context of research.5 ,6 Personal utility has been suggested as a complement to traditional criteria in the (ethical) evaluation of genetic or genomic testing.2 ,3 The notion of personal utility is an umbrella term which may serve different, even opposing agendas. For instance, whereas proponents of direct access to commercially offered genomic testing consider personal utility to be a valid rationale for the provision of testing, those thinking from a medical perspective may feel that in policy decisions with regard to the provision or reimbursement of genomic tests within the healthcare system, personal utility should have no role. This paper explores the contested notion of personal utility in the context of genomic testing, and demarcates the notion, and discusses whether it can justify the (commercial) provision or reimbursement of genomic testing.
Traditional assessment of genomic testing
Genetic and genomic tests are generally systematically assessed before policy decisions are made regarding clinical or public health implementation and reimbursement. Evaluative frameworks for the assessment of genomic tests may vary but have a set of key criteria in common: analytical validity, clinical validity and clinical utility (box 1).7 Roughly, analytical validity is the ability of a test to detect the intended genetic variant(s). Clinical validity is the ability of a test to identify individuals with the intended phenotype, that is, a disease or a risk factor for a disease (predictive ability). And clinical utility is the ability of a test to lead to improved health outcomes. Traditionally, it is thought that a morally responsible genetic or genomic testing or screening offer should meet all three criteria.
Box 1 Key assessment criteria for genomic tests
Analytical validity: How accurately and reliably the test measures the genotype(s) of interest.
Clinical validity: How consistently and accurately the test detects or predicts the intermediate or final outcomes of interest.
Clinical utility: How likely the test is to significantly improve patient outcomes.
http://www.cdc.gov/genomics/gtesting/ACCE/ (accessed 10 March 2014)
Many new commercially offered broad genomic tests are of high analytical validity, for the sequencing or microarray-based technologies used are often accurate and reliable.2 However, evidence for the clinical validity of many tests is lacking.8 Most complex diseases, such as cardiovascular diseases, psychiatric disorders, autoimmune diseases and many types of cancer, are caused by an interplay of many genetic and non-genetic factors. Currently available genomic tests for complex diseases map only a limited set of genetic factors per disease, and fail to take environmental factors into account. As a consequence, these tests will generate risk estimates that cannot distinguish reliably between individuals who are likely and individuals who are unlikely to develop such diseases. Monogenic diseases and phenotypical traits that are caused largely by a single mutation on the other hand can be predicted much more reliably through genomic testing.
The assessment of the clinical utility of a genomic test is complex, and allows for disagreement.3 Clinical utility traditionally requires that the test affects patient management and that preventive or therapeutic options are available, accessible and effective. Also, the test should be (cost-)effective compared with existing tests or approaches.2 This notion of clinical utility excludes genomic tests from which only general health recommendations (eg, physical exercise, smoking cessation, a healthy diet) can be derived, and tests for diseases for which there are no preventive or therapeutic options. Current commercially offered genomic testing services largely consist of these types of tests.
Alternative, wider notions of the clinical utility of present-day genomic tests have been proposed, which embrace the full range of the effects, positive and negative, that tests may have on patients.9 For example, if a genomic test for obesity may increase the motivations of at-risk individuals to lose weight, this can be considered a positive behavioural effect of testing, thus ceteris paribus rendering the genomic test clinically useful. Wider notions of clinical utility also encompass emotional effects, such as reassurance or anxiety, social effects, such as changing family dynamics and stigmatisation, and cognitive effects, such as improved disease understanding.9 As they cover ‘the full range of effects’ they will also cover effects on reproductive decision-making. However, in our view, to include emotional and social effects or the aim of enhancing reproductive autonomy in a notion of clinical utility is to overstretch the notion. The ethical and regulatory debate is better served by a narrower notion of clinical utility covering foremost clinical or medical harms and benefits and a complementary notion of personal utility encompassing non-clinical dimensions of testing.
Two perspectives on the notion of personal utility
In the ethical and regulatory debate, the notion of personal utility has been used at various occasions and in various ways. It usually covers personal rationales for and effects of testing, some of which may be health-related and some of which may not. Two prominent and recurring perspectives on personal utility are the following:
The healthcare perspective: meaningful options
The notion of personal utility is not foreign to traditional clinical genetic testing. In specialised clinical genetics centres in many countries, genetic testing is offered and reimbursed also when there is limited potential to improve health outcomes (when there is no clinical utility), for instance in Huntington's disease, for which no preventive or therapeutic options are available. Although genetic testing will not alter the clinical management of Huntington's disease, it may have major psychological, social and practical benefits—and thus personal utility—for at-risk individuals.7 Some commercial genomic tests include testing for Alzheimer's disease, which, in contrast to genetic testing for Huntington's disease, does not offer a presymptomatic diagnosis but a risk estimate. Still, a ‘negative’ test result may offer relief and reduce uncertainty and anxiety, whereas consumers with a highly increased risk may undertake psychological and practical preparations for a possible future. Research participants have reported that genomic testing for Alzheimer's disease may be a coping strategy,10 and a source of valuable information for making important life decisions,11 for tested individuals themselves as well as for their family members. It is a matter of debate whether such psychological and personal options fit within the goals of medicine. If so, personal utility can serve as a criterion in the (ethical) evaluation of genomic tests, also in the clinical setting. It will however not be overriding. The weight of personal utility in the overall assessment of a genomic test will depend inter alia on the disease tested for (eg, the severity of the disease) and on the clinical validity of the test. For example, genomic testing for Alzheimer's disease is not (yet) offered through the clinic because of its moderate clinical validity. Thus, from a healthcare perspective, personal utility can (but need not) be a reason to provide and/or reimburse genomic testing, when clinical utility (ie, treatment) is lacking.
Likewise, in the field of public health, notions of utility have evolved and expanded. Central to the evaluation of population screening programmes is the principle that the benefits of a programme must outweigh the harms and burdens (eg, false positives).12 The benefits of screening were traditionally defined in terms of preventive or curative options. However, as opportunities for prenatal screening increased, the view arose that lack of treatment does not necessarily mean that screening is not worthwhile.13 Screening can be aimed at informed choices regarding reproduction,13 at the offering of ‘meaningful action options’.14 The criterion of clinical utility evolved from treatability to ‘actionability,’ and actionability became a justification of population screening. Strictly speaking, since reproductive options do not lead to improved health outcomes (in the fetus), they are not part of the clinical utility of a prenatal screening test. Rather, they are an example of (health-related) personal utility for the parents.
Notions of personal utility that have arisen within the healthcare perspective retain their associations with the goals, norms and values of healthcare. For instance, while one article defines personal utility as “those benefits or harms that are manifested primarily outside medical contexts,”3 its examples are reinforced compliance, awareness of health risks, personal accountability for health-related choices and increased health-seeking behaviours. From a healthcare perspective, personal utility often remains health-related utility and tends to remain based on the medical-ethical principle of beneficence. Genomic information has personal utility, for instance, on the condition that it is ‘relevant to well-being.’3 The healthcare perspective on personal utility may be too narrow, however, for there are other (than health-related) ways in which genomic information can be personally useful.
The consumer perspective: my genome, my self
In contrast to the healthcare perspective, the consumer perspective is characterised by autonomy as a leading moral principle. “For better or for worse, people will want to know about their genomes,”15 because people will want to know about themselves. Many consumers do not turn to commercially offered genomic testing for specific health problems. Rather, they seek such testing ‘out of curiosity,’ for the ‘fun factor,’16 because they self-identify as early adopters of new technologies, or because they wish to contribute to genomics research. There appears to be a trend of ‘appropriation’ or ownership and control of genomic information among research participants and consumers. People feel they should be able to own their genomic data, and wish to ‘know as much as possible’ about their genetic make-up.17 They even claim a “sense of personal entitlement to that knowledge.”18 The consumer perspective implies that there is personal utility in the sheer possession of one's genomic data. Participation, access and self-determination are its core values.
The notion of personal utility is repeatedly referred to in the recent literature on preferences of research participants regarding the return of findings from genomics studies or biobanks. Research participants often prefer to receive a wide set of individual test results, even when these results are not validated or have little clinical significance.6 While researchers and clinicians often feel that results of unclear significance should not be reported,19 participants indicate that ‘information is information’ and point out that the results have personal utility.6 Seen from the consumer perspective, consumers or research participants themselves should decide whether or not a genomic test has personal utility, on the basis of their subjective experiences. The consumer notion of personal utility is not restricted to well-being, and may even be wider than the psychological, social and emotional benefits of testing. Genomic testing is not required to bring benefits at all—it may just bring entertainment or satisfy curiosity. Personal utility may reside even in something like ‘the value of information per se.’20 The consumer perspective on personal utility will not be tenable across the board, for, as will be argued, there is no such thing as personal utility in ‘information per se,’ especially when its significance is unclear.
What is personal utility? A definition
An adequate definition of personal utility should seek a middle ground between the healthcare perspective and the consumer perspective to do justice to both components of the term. It should also take note of the implicit normative charge of the term, for the claim that a test has personal utility implicitly suggests that it has value. It is a positive evaluative judgment. Because of this normative charge, inflation of the term should be avoided: if genomic tests are attributed personal utility whenever someone takes any form of interest in them, the term can no longer be used in ethical or regulatory discussions to distinguish between useful tests and useless (or less useful) tests.
This paper proposes the following tentative definition: genomic information has personal utility if and only if it can reasonably be used for decisions, actions or self-understanding which are personal in nature. It can be personally useful to know, for instance, that one is carrier of a mutation that causes Huntington's disease. In theory, it can be personally useful to know, for instance, about one's paternity, muscle type, memory, baldness, carrier status or metabolism—on the condition, that is, that these traits can be reliably predicted (oftentimes, they cannot). Personal utility can be (indirectly) related to health and disease, but is distinguished from clinical utility because it does not affect clinical management or lead to improved health outcomes.
The proposed definition of personal utility presupposes two things: that a genomic test delivers information (ie, meaningful information) and that this information can be used or put to use in some reasonable way. This means that raw data do not have personal utility, since data themselves do not yet constitute information. Furthermore, a genomic test of limited clinical validity, which fails to consistently and accurately predict a phenotype of interest, does not convey meaningful, informative results and thus cannot have personal utility. In fact, it cannot have any utility at all, neither clinical nor personal. Research participants have been found to prefer ‘even uninterpretable information’21 to be reported back, with an appeal to personal utility. According to our definition, there can be no personal utility in uninterpretable information, for uninterpretable information is a contradiction in terms.
Second, genomic information of personal utility should have a purpose. According to the proposed definition, ‘just wanting to know’ is not a form of personal utility. Neither are mere entertainment or curiosity value. An exemplary case is the Asparagus Metabolite Detection test (http://www.23andme.com) which estimates an individual's ability to detect the distinct smell of a metabolite called methanethiol, a sulfur-containing compound which is found in urine after eating asparagus. As the test is of limited clinical validity, it cannot determine whether or not someone has this ability, but only indicates slightly increased or decreased odds. Although consumers may perceive some sort of value in such testing (eg, they may simply ‘enjoy knowing’ that their odds of having the ability to smell asparagus in urine are slightly increased, or they may wish to tell their friends about their testing experience), the ‘information’ conveyed does not answer the question: ‘do I have this ability?’, nor is it actionable in any reasonable way. The Asparagus Metabolite Detection test thus has no personal utility, for there is no ‘reasonable personal use’ for it.22
From the proposed definition it follows that not all claims to personal utility are equally valid. Consumers or research participants may not always be in the best position to judge whether a genomic test has personal utility. Expert judgment, especially of clinical validity, is indispensable.23 Although consumers should be free to decide what values or goals (if any) they seek to attain through genomic testing, experts should determine whether a particular genomic test can provide the (clinical or personal) utility sought. Individual consumers or research participants may claim or perceive personal utility where there is none. Perceived utility does not equal personal utility. If genomic information is not valid and/or cannot be used in any reasonable way, there is no utility in that information.
Do genomic tests have personal utility? Two examples
There is no single answer to the question whether genomic tests have personal utility. Personal utility comes in degrees and can be established only on a case-by-case basis, for it relies upon a fit between test characteristics (eg, clinical validity) and the individual context of testing, notably on the purpose of testing or on the question for which testing is sought. Expert judgment may be required to assess whether or not there is personal utility in a particular genomic test in a particular context. Two examples serve to illustrate this point.
Muscle Performance testing: clinical validity
Mr A wants to take up sports, but is unsure whether to start training for a marathon or play squash. To learn which of the sports best suits him, Mr A orders a Muscle Performance test from a direct-to-consumer company that maps a gene called ACTN3 (http://www.23andme.com), which encodes for the production of α-actinin-3 in fast-twitch muscle cells and is associated with power and sprint performance in Olympic athletes. Can the Muscle Performance test tell Mr A whether he is a sprinter or a marathoner? Mr A turns out heterozygous for the ACTN3 gene. The one study that has been conducted in non-professional athletes showed no or very small effects of the ACTN3 gene on running performance.24 Testing for the ACTN3 gene in non-professional athletes like Mr A thus has little clinical validity. Further, whether Mr A is a sprinter or a marathoner is determined by a variety of factors besides α-actinin-3, ranging from the condition of his heart and the capacity of his lungs to his personal history of exercise and training, and above all else, his personal preferences. The Muscle Performance test is unable to answer Mr A's question regarding sports suitability, for it has insufficient clinical validity in this context. And in the absence of clinical validity, there is no personal utility.
Testing for BRCA 1: context of testing
Mrs B orders a Hereditary Cancer DNA Insight test from an internet-based commercial company25 to find out whether she has an increased risk for hereditary breast cancer. Although breast cancer has not occurred among her many female relatives, Mrs B has been reading about the disease and feels a pressing need to be reassured. The test is of high analytical and clinical validity: if the company finds a mutation in the BRCA1 or BRCA2 genes, Mrs B will know that her risks of developing breast and ovarian cancer are very high. There are preventive options for hereditary breast cancer, such as surveillance and prophylactic surgery. Does the Hereditary Cancer DNA Insight test have personal utility for Mrs B?
As Mrs B does not have a personal or family history of breast or ovarian cancer, the odds that she carries a BRCA1 or BRCA2 mutation are very low. The test is likely to come back negative. Mrs B will feel relieved and perceive (personal) utility of testing. However, if Mrs B's reason for purchasing the test was to be reassured about breast cancer (generally), not about a set of specific mutations that can cause hereditary breast cancer syndromes in affected families, this test has no utility for her. In feeling relieved after receiving negative test results, Mrs B may not understand that she still has an average risk of 1 in 8 of developing breast cancer in her lifetime. She might even have a different mutation causing breast cancer that was previously unknown and therefore not covered by the test. In a worst-case scenario, Mrs B, falsely reassured, may ignore a developing lump and see a doctor when it is too late for effective treatment. Notwithstanding Mrs B's perception of utility, it must be concluded that the Hereditary Cancer DNA Insight test has little personal utility for Mrs B. To the contrary, Mrs B had better not use this test for the purposes of reassurance with regard to breast cancer.
It should be noted that measures of utility may be different for Miss C, who does not know her family history because she has been adopted as a young girl. Miss C has witnessed the impact of hereditary breast cancer on the life of a close friend. Miss C wants to know whether she might be affected by a similar hereditary condition. Although Miss C's odds of having a BRCA1 or BRCA2 mutation are low, they are not absent, and a genomic test will reliably detect these mutations if they are present. It is not unreasonable for Miss C to order genomic testing. Testing may have personal utility for her.
Conclusions: limits of personal utility
Genomic sequencing is on its way to become widespread, through research, in the clinic and on the direct-to-consumer market. Around the world, researchers, clinicians, ethics committees and participant representatives are directing their efforts towards policies for the interpretation and feedback of genomic data in the context of genomics or biobank research. Although understandably, research participants, consumers and patients may wish to know ‘all there is to know’ or ‘as much as possible,’ these preferences do not automatically justify a claim right based on personal utility. From the fact that consumers or participants perceive (clinical or personal) utility in genomic information it does not follow that this information has utility. There is no utility in uninterpretable, meaningless or useless information or in information that cannot answer the question with which testing was initiated. Consumers and research participants may need expert assistance to determine whether genomic information can have clinical or personal utility for them.
Many currently offered genomic tests for complex diseases and other traits are neither informative nor useful for decision-making—whether clinical or personal. Consumers may find entertainment value in such tests, or seek ownership of genomic information, which may be perfectly good reasons for consumers to pursue them. But entertainment value is not the same as utility. It need not follow that such genomic testing should be restricted, but it does follow that its provision cannot simply be justified on the basis of—perceived—utility (for there may be none).
Although personal utility does not provide an overriding argument for (direct) access to genomic testing, expert judgment of personal utility can serve as a criterion in the ethical evaluation and regulation of genomic tests. It can function as an addition or alternative to the traditional criterion of clinical utility. After all, there are reasonable uses of genomic information that are personal rather than clinical in nature (eg, paternity testing or testing for certain phenotypical traits). Personal utility can be weighed differently from one individual testing context to the next. Where there is sufficient clinical validity and little risk of harm, personal utility may constitute a net benefit and might work to justify a direct-to-consumer genomic testing offer. And just like clinical genetic testing for Huntington's disease, genomic testing that improves well-being and meets the goals of medicine may be eligible for provision and reimbursement through the healthcare system, even in the absence of clinical utility. An appeal to personal utility is well-founded however only on the conditions of clinical validity and reasonable use.
Abstract in Dutch
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Contributors All three authors have contributed substantially to the manuscript. EMB has drafted the manuscript. ACJWJ and MHNS have critically reviewed the manuscript. All three authors have been involved in discussing the revisions.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.
↵i In November of 2013, the US Food and Drug Administration (FDA) has taken regulatory action against 23andme, one of the leading commercial providers of genomic testing, causing the company to halt its direct-to-consumer sales of health-related testing. Today, the company restricts its testing offer to ancestry and trait information. It also allows consumers to access their raw data.
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