Lessons from predictive testing for Huntington ...

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Genetic counselling

COMMENTARY

Lessons from predictive testing for Huntington disease: 25 years on Alice K Hawkins,1,2 Anita Ho,2 Michael R Hayden1 The availability of predictive genetic tests has rapidly expanded in the last two decades. We can now provide testing for a range of adult onset conditions including certain cancers, cardiac diseases, and neurological disorders. These developments have recognised benefit including determining the necessity of additional screening or preventive options, relieving uncertainty, and reproductive planning. However, despite these benefits, predictive tests raise challenges regarding the ethical delivery of genetic testing, results, and services. To respond to these challenges, predictive testing protocols, such as those for Huntington disease (HD), have required several in-person appointments, spread over several weeks or months, in order to undergo counselling, testing, and receive test results.1 Originally, these multi-step, multi-visit protocols were developed to both protect individuals from the potential for serious psychological damage from receiving increased risk results, as well as to ensure that individuals undergoing testing made a fully considered decision. In addition, incorporating post-test result appointments into the testing protocol aimed to ensure adequate follow-up care and support. By providing opportunities for informed decision making and reduced potential harms, such guidelines respect the ethical principles which form the foundation our healthcare system, namely: (1) respect for autonomy; (2) non-maleficence; (3) beneficence; and (4) justice.2 While some suggest that the first of thesedautonomydholds a place of

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Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada; 2 W. Maurice Young Centre for Applied Ethics, University of British Columbia, Vancouver, BC, Canada Correspondence to Alice Hawkins, Centre for Molecular Medicine and Therapeutics, 950 West 28th Ave, University of British Columbia, Child and Family Research Institute, Vancouver V5Z 4H4, BC, Canada; [email protected] J Med Genet October 2011 Vol 48 No 10

primacy in the North American medical system, all are considered important. However, for HD, after 25 years of predictive test experience, a fresh look at predictive testing raises the question as to whether all of these ethical principles have been equally upheld by the current testing protocols. For example, while testing protocols were designed to ‘do no harm’ by reducing or avoiding psychological impact, studies tracking individuals for several years following test results have revealed that initial concerns of frequent immediate and long term adverse events (eg, suicide and depression) have not been substantiated.3 Moreover, an increasing recognition of the importance of patient centred care has drawn attention to suggestions that instead of respecting autonomy, lengthy testing protocols could, in fact, be viewed as paternalistic, overly time consuming, and infringing upon a person’s ‘right to know’.4 5 Finally, requiring multiple, in-person appointments may contravene the principle of justice and fair resource allocation, as those who do not reside in a major urban centre face barriers (in terms of costs, time away from family and stress).6 7 The latter issue may even be harmful in nature; if those who may benefit from predictive testing have restricted access to genetic services, they may be unable to realise the benefits of testing.7 8 These benefits include the possibility of screening and intervention either currently available or foreseen in the future.9 10 The issue of access also infringes upon personal autonomy in that it limits choice and informed decision making. While the HD predictive testing paradigm provides an elegant illustration of the problem of providing predictive testing in an ethical manner, the issue is not unique to HD. It is directly relevant to other areas of clinical genetics such as susceptibility testing for Alzheimer’s disease and across multiple hereditary cancer predispositions. Calling attention to the inadequacy of

current, inflexible testing practices underscores the need for pragmatism and flexibility in exploring novel mechanisms to provide predictive genetic testing and services in a patient centred, respectful, just, and beneficial manner. In some areas of genetics this evolution and exploration has begun. This is most notable in the area of cancer genetic counselling where novel telemedicine approaches have proved successful, not just in terms of patient satisfaction and wellbeing,11 12 but also in terms of cost effectiveness.13 Such forward thinking approaches promote the accessibility and portability of beneficial clinical services. Nevertheless, more consideration and research is needed to determine flexible patient centred approaches to predictive testing. The issues, benefits, and risks need to be assessed carefully and discussed. In agreement with Knoppers and Chadwick, we think that bioethics principles can and should evolve in their application as new health technologies, such as predictive genetic testing, become available.14 As such we have to move away from rigid testing practices and adapt our policies and protocols so that they are tailored to individuals’ needs, circumstances, and constraints. For HD, this may exceptionally mean testing persons below the age of 18 years, testing persons who are 25% at risk, and also devising different strategies to deliver predictive testing to those living geographically distant from a genetic centre. Doing so requires prospective, controlled studies to design and evaluate novel customised approaches to testing that respect the diversity of the populations we serve. In the case of HD, such a collaborative tailored approach could involve providing pre-test counselling via web based education and telemedicine methods, and incorporating novel communication tools including local delivery of results with the aid of a trained and trusted community healthcare provider. The objective is to provide testing in an ethical and patient centred manner that improves the providerepatient relationship while maintaining support and the importance of informed consent. The need to challenge and rethink current practices in the delivery of genetic testing, and to respond to patient concerns, will facilitate novel approaches and adaptive solutions in the best interest of serving our patients. Funding The authors of this commentary receive support for research into predictive testing for Huntington’s disease from the CHDI Foundation and the Canadian Institutes of Health Research. 649

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Genetic counselling

Competing interests None. Contributors Alice Hawkins completed the first draft of the manuscript with input from Michael Hayden and Anita Ho. All authors contributed to content, structure, and discussion. All authors read and approved the final version of the commentary before submission.

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Provenance and peer review Not commissioned; externally peer reviewed. 6.

Received 20 July 2011 Accepted 22 August 2011 J Med Genet 2011;48:649e650. doi:10.1136/jmedgenet-2011-100352

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J Med Genet October 2011 Vol 48 No 10

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Lessons from predictive testing for Huntington disease: 25 years on Alice K Hawkins, Anita Ho and Michael R Hayden J Med Genet 2011 48: 649-650

doi: 10.1136/jmedgenet-2011-100352

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