Authors' objectives:

This monitoring report describes a number of potential applications, some closer by and potentially more realistic than others. One application that may be expected in the short term is genome-wide diagnostic testing for poorly understood diseases. Searching the entire genome for a genetic cause will often allow a diagnosis to be made. This is already being done using techniques that look less deeply into the genome. An application that is currently less useful is actively analysing an individual’s ‘personal genome’ without medical indication. The advantages some expect from this depend on the realisation of the ideal of personalised forms of prevention and treatment (personalised medicine). This remains largely in the future.
This monitoring report is an ethical exploration. It lists the potential advantages implementation of the thousand-dollar genome may bring to healthcare, but also points out the possible disadvantages. After all, genome-wide tests can also deliver information that is a burden or harmful for individuals involved. Difficult ethical (and legal) questions are raised
regarding, among other things, informed consent, the right to not know, genetic testing in children and protection of privacy. In essence, these themes and questions are not new; their scale in this context, however, is.

Authors' recommendations: Even if the question of whether all expectations raised by the ideal of personalised medicine will be realised remains open, the developments described in this monitoring report appear to have potentially far-reaching consequences, not only for future developments in healthcare, but also for individuals and society as a whole.Genome-wide diagnostic testing can deliver useful information about poorly understood diseases and improve the prognosis of and treatment options for patients. But it will inevitablyalso yield all kinds of unsought information that is potentially burdening or even harmful for the patient (and his or her blood relatives). This raises the question of what conditions must be met for responsible use of such testing. It is currently insufficiently clear whether meaningful informed consent is possible in this context, how the ‘right to not know’ can be given form, and how the obtained information can be handled in a responsible manner. The questions become all the more pressing where genome-wide diagnostic testing of children is concerned.Genome-wide screening, the analysing of the entire genome without medical indication, appears to have more disadvantages than potential advantages for the parties involved at thistime. Offering such screening as part of standard healthcare cannot be justified at this time. However, as whole genome sequencing costs drop, commercial offerings based on genomewide tests are to be expected. The question is how this affects the role of the government. Is its primary task in this context to protect citizens from unsuitable screening, or should they be left free to determine what information they want to obtain about themselves?Where genome-wide screening of adults already leads to difficult questions, the issue is magnified when it comes to children, for example in the scenario of genome-wide heel prickscreening. The question becomes not only whether the people making the decision can oversee the Pandora’s box they are opening, but also whether they have the right to makethat decision for their children. An important distinction between screening and genome-wide tests in the context of diagnostic testing is that there is no indication for such a broad test for the former. The potential benefit of analysing genetic characteristics that may be relevant for all kinds of personalised medicine as early in life as possible is itself not sufficient justification.Even if increasing understanding will make this a stronger argument in the future than it is now, the question remains whether the intended advantages outweigh the potential harmcaused by burdening information or information that can otherwise negatively affect the child in question. Third party interests, including the desire of parents to know as much as possible about the genetic makeup of their child, or those of scientific research, may not play a decisive role when coming to a decision.Analysing the entire genome of future children may be the unintended consequence of genome-wide diagnostic testing and screening offered during pregnancy in the context ofmaking an informed abortion decision. The question is what the potential violation of the child’s ‘anticipatory autonomy rights’ should entail for the acceptability of genome-wideprenatal testing. Does the distinction between diagnostic testing and screening matter? The autonomy of the future child is also affected by the potential widening of the scope of embryo screening in the context of IVF. This involves the question of which embryos qualify for implantation into the uterus. Do doctors (and future parents) not have the responsibility to choose the embryo with the best health prospects? Conversely: are they allowed to analyse the entire genome of embryos that may grow into a child?The questions raised by the discussion of the potential applications of the thousand-dollar genome are not all new, although the scale of the challenges is. More important is what ishappening with the familiar normative frameworks normally used to thematise and answer such questions. They are under pressure, starting to overlap or run into each other. Relative to the developments discussed in this monitoring report, they appear to be losing at least part of their organising capacity and guiding character. Although some of the developments discussed are problematic when viewed from within these frameworks, there is also room to ask whether review or recalibration of these frameworks is necessary, should we wish to continue providing guidance for the application of scientific knowledge in healthcare.Further reflection on the developments outlined and the normative implications thereof for all parties involved, including clinicians, scientists, jurists, ethicists, patient organisations and policy makers is of great importance. To begin with, there is a need for guideline development by the professions involved in the application of genome-wide diagnostics in adults, children and foetuses. The most current question is how to responsibly deal with unsought for outcomes of such diagnostic testing. Given the complexity of the matter, in both normative and scientific terms, there is also a need for more comprehensive reflection and debate.

Project Status: Completed

URL for project: http://www.gezondheidsraad.nl/sites/default/files/201015E.pdf

Year Published: 2010

URL for published report: http://www.gezondheidsraad.nl/en/publications/thousand-dollar-genome-ethical-exploration

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Netherlands

Organisation Name: Health Council of the Netherlands Gezondheidsraad

Contact Address: Postbus 16052, 2500 BB Den Haag, The Netherlands. Tel: +31 70 340 7520;Fax: +31 70 340 7523

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Contact Email: info@gr.nl

Copyright: Health Council of the Netherlands(GR)