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Commentary
Do genomic tests enhance autonomy? Eline M Bunnik It is not a bad idea to assess whether direct-to-consumer (DTC) genomic tests are a threat to or instead an enhancement of autonomy, as is done in the article ‘Direct to consumer genomics on the scales of autonomy’ by Effy Vayena.1 Autonomy has played a starring role in ethical discussions surrounding DTC genomic testing, but has taken many different shapes. Vayena deploys Joseph Raz’ conception of autonomy, which entails that genomic tests enhance autonomy if they present the consumer with an adequate—that is, varied and morally worthwhile—range of options to choose from, which should promote the consumer’s interests. She states that genomic tests generate ‘plural utilities’ that are taken to expand the range of valuable options and therewith to satisfy Raz’ thick conception of autonomy. Thus, Vayena makes an autonomy-based case in favour of legal permissibility of commercially offered genomic tests. The analysis however overlooks three crucial considerations. First, there is no such thing as ‘genomic testing’. Plenitudes of genomic tests have been put to market, with different underlying techniques and test characteristics, different diseases and other phenotypical traits included in the testing offer, and different levels of pretest information provision and counselling. Dissimilar tests will offer dissimilar utilities. This diversity limits our capacity to make general moral statements about (the utility of ) genomic tests. Any enterprise undertaken to assess the workings of autonomy in the context of DTC genomic testing must start with a clear demarcation of the test or type of testing under consideration. Further, it should be noted that most commercial providers have abandoned DTC sales of their services and now require the involvement of medical professionals in the ordering of the test and the interpretation of test results. Second, in genomic testing, ‘autonomy’ operates on—at least—three distinct levels, which are often conflated in ethical and regulatory discussions. First, autonomy is connected with pretest decisionCorrespondence to Eline M Bunnik, Medical Ethics and Philosophy of Medicine, Erasmus MC, dr. Molewaterplein 50, Rotterdam 3015 GE, The Netherlands; [email protected]
making and informed consent. Informed consent is instrumental in protecting the right not to know genetic information. It helps prepare consumers for what it is they are getting into and promotes autonomous choices for or against testing. Second, autonomy plays a role in the question whether or not DTC genomic tests fulfil their promise—or their value proposition—of empowering consumers to take control of their health or otherwise promote consumers’ interests. This is a separate and largely empirical question: will genomic testing enable consumers to improve their health or change their lifestyle, will it tell them something useful or enable them to make ‘life-shaping choices’?1 Third, genomic testing itself can be thought of as one (valuable) option among many options available on the market. Regulation or legislation that restricts DTC access to genomic tests may hinder consumer autonomy, in the sense of liberty of consumer choice. (Name author) seems to confound the second and the third senses of autonomy: does she argue that DTC genomic testing generates valuable options or that it is a valuable option? In what follows, it will become clear that these two questions may elicit opposing answers. Finally, and most importantly, it is not a matter of fact that DTC genomic tests generate plural utilities for consumers. The evaluation of utility—clinical or personal—is a careful process.2 I would like to argue that it is most questionable that DTC genomic tests, as they are currently available, generate life-shaping options for consumers. Elsewhere in this journal, I have proposed a normative definition of utility that implies two preconditions: the so-called clinical validity of the test (the ability of the test to predict the phenotype in question) and potential usefulness of the test results.2 A major problem with most genomic tests based on array technologies is their lack of clinical validity.3 Such tests generally yield large quantities of data but very little information. As a consequence, most of these tests do not generate (actionable) options at all, medical or non-medical. Evidence indicates that consumers are motivated to pursue genomic testing for a variety of reasons, including non-medical reasons, such as entertainment or curiosity.4 Indeed, genomic information is Bunnik EM. J Med Ethics April 2015 Vol 41 No 4
fascinating and may have plural meanings (eg, ancestry or phenotypical trait information). The genomic testing experience itself may be enjoyable. However, from the fact that consumers experience satisfaction or pleasure, it does not follow that genomic tests generate valuable lifeshaping options. There is a difference between perceived utility and actual utility. Critical reflection on that difference should be part and parcel of the ethical analysis of genomic testing services. Especially since acting upon test results of limited clinical validity—personally or clinically—is not likely to advance consumers’ interests at all. Autonomy-based arguments for more liberal regulatory schemes for DTC genomic testing are better served by different, narrower conceptions of autonomy. Recently, bioethicists have vouched for a right to access one’s genomic data, referring to values such as agency, control and freedom to decide.5 These values do not presuppose the existence of a range of valuable options. Nor do they require that genomic data meet certain quality requirements, advance one’s interests or improve one’s well-being or deliver any kind of benefit. Alternatively, one may simply stress that in the apparent absence of substantial harms,6 7 there is no pressing need to restrict consumer access to genomic tests. Consumers may rightfully look for plural ‘utilities’ in DTC genomic testing, including entertainment. It can indeed be argued that they should be allowed to do so, but not with an appeal to the claim that genomic tests enhance autonomy. Not all of them do—not on a Razian conception of autonomy. Competing interests None. Provenance and peer review Commissioned; internally peer reviewed.
To cite Bunnik EM. J Med Ethics 2015;41:315–316. Received 3 June 2014 Accepted 11 June 2014 Published Online First 30 June 2014
▸ http://dx.doi.org/10.1136/medethics-2013-101887 ▸ http://dx.doi.org/10.1136/medethics-2013-101996 ▸ http://dx.doi.org/10.1136/medethics-2014-102026 J Med Ethics 2015;41:315–316. doi:10.1136/medethics-2014-102171 315
Downloaded from http://jme.bmj.com/ on August 13, 2015 - Published by group.bmj.com
Commentary REFERENCES 1 2
3
316
Vayena E. Direct-to-consumer genomics on the scales of autonomy. J Med Ethics 2015;41:310–4. Bunnik EM, Janssens AC, Schermer MH. Personal utility in genomic testing: is there such a thing? J Med Ethics 2015;41:322–6. Kalf RR, Mihaescu R, Kundu S, et al. Variations in predicted risks in personal genome testing for
4
5
common complex diseases. Genet Med 2014;16:85–91. McGowan ML, Fishman JR, Lambrix MA. Personal genomics and individual identities: motivations and moral imperatives of early users. New Genet Soc 2010;29:261–90. Lunshof JE, Church GM, Prainsack B. Raw personal data: providing access. Science 2014;343:373–74.
6
7
Bloss CS, Wineinger NE, Darst BF, et al. Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet 2013;50:393–400. James KM, Cowl CT, Tilburt JC, et al. Impact of direct-to-consumer predictive genomic testing on risk perception and worry among patients receiving routine care in a preventive health clinic. Mayo Clin Proc 2011;86:933–40.
Bunnik EM. J Med Ethics April 2015 Vol 41 No 4
Downloaded from http://jme.bmj.com/ on August 13, 2015 - Published by group.bmj.com
Do genomic tests enhance autonomy? Eline M Bunnik J Med Ethics 2015 41: 315-316 originally published online June 30, 2014
doi: 10.1136/medethics-2014-102171 Updated information and services can be found at: http://jme.bmj.com/content/41/4/315
These include:
References Email alerting service
Topic Collections
This article cites 5 articles, 2 of which you can access for free at: http://jme.bmj.com/content/41/4/315#BIBL Receive free email alerts when new articles cite this article. Sign up in the box at the top right corner of the online article.
Articles on similar topics can be found in the following collections Informed consent (248) Legal and forensic medicine (383) Philosophy of medicine (18)
Notes
To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
Commentary
Do genomic tests enhance autonomy? Eline M Bunnik It is not a bad idea to assess whether direct-to-consumer (DTC) genomic tests are a threat to or instead an enhancement of autonomy, as is done in the article ‘Direct to consumer genomics on the scales of autonomy’ by Effy Vayena.1 Autonomy has played a starring role in ethical discussions surrounding DTC genomic testing, but has taken many different shapes. Vayena deploys Joseph Raz’ conception of autonomy, which entails that genomic tests enhance autonomy if they present the consumer with an adequate—that is, varied and morally worthwhile—range of options to choose from, which should promote the consumer’s interests. She states that genomic tests generate ‘plural utilities’ that are taken to expand the range of valuable options and therewith to satisfy Raz’ thick conception of autonomy. Thus, Vayena makes an autonomy-based case in favour of legal permissibility of commercially offered genomic tests. The analysis however overlooks three crucial considerations. First, there is no such thing as ‘genomic testing’. Plenitudes of genomic tests have been put to market, with different underlying techniques and test characteristics, different diseases and other phenotypical traits included in the testing offer, and different levels of pretest information provision and counselling. Dissimilar tests will offer dissimilar utilities. This diversity limits our capacity to make general moral statements about (the utility of ) genomic tests. Any enterprise undertaken to assess the workings of autonomy in the context of DTC genomic testing must start with a clear demarcation of the test or type of testing under consideration. Further, it should be noted that most commercial providers have abandoned DTC sales of their services and now require the involvement of medical professionals in the ordering of the test and the interpretation of test results. Second, in genomic testing, ‘autonomy’ operates on—at least—three distinct levels, which are often conflated in ethical and regulatory discussions. First, autonomy is connected with pretest decisionCorrespondence to Eline M Bunnik, Medical Ethics and Philosophy of Medicine, Erasmus MC, dr. Molewaterplein 50, Rotterdam 3015 GE, The Netherlands; [email protected]
making and informed consent. Informed consent is instrumental in protecting the right not to know genetic information. It helps prepare consumers for what it is they are getting into and promotes autonomous choices for or against testing. Second, autonomy plays a role in the question whether or not DTC genomic tests fulfil their promise—or their value proposition—of empowering consumers to take control of their health or otherwise promote consumers’ interests. This is a separate and largely empirical question: will genomic testing enable consumers to improve their health or change their lifestyle, will it tell them something useful or enable them to make ‘life-shaping choices’?1 Third, genomic testing itself can be thought of as one (valuable) option among many options available on the market. Regulation or legislation that restricts DTC access to genomic tests may hinder consumer autonomy, in the sense of liberty of consumer choice. (Name author) seems to confound the second and the third senses of autonomy: does she argue that DTC genomic testing generates valuable options or that it is a valuable option? In what follows, it will become clear that these two questions may elicit opposing answers. Finally, and most importantly, it is not a matter of fact that DTC genomic tests generate plural utilities for consumers. The evaluation of utility—clinical or personal—is a careful process.2 I would like to argue that it is most questionable that DTC genomic tests, as they are currently available, generate life-shaping options for consumers. Elsewhere in this journal, I have proposed a normative definition of utility that implies two preconditions: the so-called clinical validity of the test (the ability of the test to predict the phenotype in question) and potential usefulness of the test results.2 A major problem with most genomic tests based on array technologies is their lack of clinical validity.3 Such tests generally yield large quantities of data but very little information. As a consequence, most of these tests do not generate (actionable) options at all, medical or non-medical. Evidence indicates that consumers are motivated to pursue genomic testing for a variety of reasons, including non-medical reasons, such as entertainment or curiosity.4 Indeed, genomic information is Bunnik EM. J Med Ethics April 2015 Vol 41 No 4
fascinating and may have plural meanings (eg, ancestry or phenotypical trait information). The genomic testing experience itself may be enjoyable. However, from the fact that consumers experience satisfaction or pleasure, it does not follow that genomic tests generate valuable lifeshaping options. There is a difference between perceived utility and actual utility. Critical reflection on that difference should be part and parcel of the ethical analysis of genomic testing services. Especially since acting upon test results of limited clinical validity—personally or clinically—is not likely to advance consumers’ interests at all. Autonomy-based arguments for more liberal regulatory schemes for DTC genomic testing are better served by different, narrower conceptions of autonomy. Recently, bioethicists have vouched for a right to access one’s genomic data, referring to values such as agency, control and freedom to decide.5 These values do not presuppose the existence of a range of valuable options. Nor do they require that genomic data meet certain quality requirements, advance one’s interests or improve one’s well-being or deliver any kind of benefit. Alternatively, one may simply stress that in the apparent absence of substantial harms,6 7 there is no pressing need to restrict consumer access to genomic tests. Consumers may rightfully look for plural ‘utilities’ in DTC genomic testing, including entertainment. It can indeed be argued that they should be allowed to do so, but not with an appeal to the claim that genomic tests enhance autonomy. Not all of them do—not on a Razian conception of autonomy. Competing interests None. Provenance and peer review Commissioned; internally peer reviewed.
To cite Bunnik EM. J Med Ethics 2015;41:315–316. Received 3 June 2014 Accepted 11 June 2014 Published Online First 30 June 2014
▸ http://dx.doi.org/10.1136/medethics-2013-101887 ▸ http://dx.doi.org/10.1136/medethics-2013-101996 ▸ http://dx.doi.org/10.1136/medethics-2014-102026 J Med Ethics 2015;41:315–316. doi:10.1136/medethics-2014-102171 315
Downloaded from http://jme.bmj.com/ on August 13, 2015 - Published by group.bmj.com
Commentary REFERENCES 1 2
3
316
Vayena E. Direct-to-consumer genomics on the scales of autonomy. J Med Ethics 2015;41:310–4. Bunnik EM, Janssens AC, Schermer MH. Personal utility in genomic testing: is there such a thing? J Med Ethics 2015;41:322–6. Kalf RR, Mihaescu R, Kundu S, et al. Variations in predicted risks in personal genome testing for
4
5
common complex diseases. Genet Med 2014;16:85–91. McGowan ML, Fishman JR, Lambrix MA. Personal genomics and individual identities: motivations and moral imperatives of early users. New Genet Soc 2010;29:261–90. Lunshof JE, Church GM, Prainsack B. Raw personal data: providing access. Science 2014;343:373–74.
6
7
Bloss CS, Wineinger NE, Darst BF, et al. Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet 2013;50:393–400. James KM, Cowl CT, Tilburt JC, et al. Impact of direct-to-consumer predictive genomic testing on risk perception and worry among patients receiving routine care in a preventive health clinic. Mayo Clin Proc 2011;86:933–40.
Bunnik EM. J Med Ethics April 2015 Vol 41 No 4
Downloaded from http://jme.bmj.com/ on August 13, 2015 - Published by group.bmj.com
Do genomic tests enhance autonomy? Eline M Bunnik J Med Ethics 2015 41: 315-316 originally published online June 30, 2014
doi: 10.1136/medethics-2014-102171 Updated information and services can be found at: http://jme.bmj.com/content/41/4/315
These include:
References Email alerting service
Topic Collections
This article cites 5 articles, 2 of which you can access for free at: http://jme.bmj.com/content/41/4/315#BIBL Receive free email alerts when new articles cite this article. Sign up in the box at the top right corner of the online article.
Articles on similar topics can be found in the following collections Informed consent (248) Legal and forensic medicine (383) Philosophy of medicine (18)
Notes
To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
![[Storage of human samples for research: Autonomy and genomic data].](/assets/img/hold.png)
