Abstract and Introduction
The evolving vision for personalized medicine (PM) implies a systems approach to the re-organization of healthcare and how we define the boundary between care and research. Calls for scaling PM up to a systems level requires a broad definition of quality not restricted to how the different elements of the system perform (e.g., laboratory quality control, biomarker prediction, biobanking, information systems, data sharing and security, and clinical outcomes) but how these elements work together to optimize population relevant quality indicators – effectiveness, affordability, system sustainability, public confidence and accessibility. Examples of PM-associated information technologies and innovative clinical evaluation methods with a focus on cancer medicine are provided to demonstrate how quality and ethics are inextricably linked to a PM systems approach. While current, traditional ethical standards sometimes challenge the PM approach, PM is challenging us to review ethical standards and improve ethical frameworks to meet new and future realities.
In this paper, we address the quality of personalized medicine (PM) through an ethical lens with a focus on cancer medicine where the application of PM has been most advanced. We define PM from a molecular genetics perspective (distinct from patient-centered care) as involving the use of personal genomic and related information for the purpose of tailoring a patient's unique preventative/treatment needs based on their individual genetic profile.
Furthermore, we take a forward-looking approach to quality that is consistent with the vision of PM from a systems' perspective.[1,2] This approach refers to the integration of the elements of PM within a broader healthcare and informational framework, and functional interdependence of the various laboratory, research and care delivery processes involved. We describe selected current and anticipate future challenges to show how early and continuous, conscientious attention to emerging ethical considerations in PM can contribute towards furthering the quality of PM research and practice.
The concept of PM has evolved with the realization that to be accessible and effective PM needs to be integrated within existing healthcare delivery systems both within and across institutions.[1–3] Quality as an attribute of performance is an abstract concept that can be defined operationally according to several domains. Accessibility and effectiveness in producing desired outcomes for the population as a whole are among key measurable characteristics that define domains of quality in health care delivery. More recently, affordability has been recognized as a characteristic that helps define quality in cancer medicine; and sustainability of the healthcare system is related to both affordability and maintenance of public confidence. Maintaining the public's confidence and its trust in the healthcare system means ensuring that the system functions so as to meet not only the needs, but also the public's expectations for quality of care. Trust can be nurtured through demonstrating real and perceived due diligence, reporting on performance, using standards for securing and sharing data and respecting the covenant between the patient (or research participant) and the system, often expressed tangibly in the research domain through the informed consent process.
Recent proposals call for a seamless integration of PM within established models of healthcare, as well as the integration of care and research as a necessary strategy for the effective delivery and evaluation of PM.[5–8] The strategies will require significant investments for the purpose of ensuring the accuracy (validity) and reproducibility of diagnostic/predictive tests across institutions and for building infrastructures. This is true for collecting, storing, sharing and protecting aggregated and analyzable data on individuals, including the interventions they receive and the outcomes associated with unique personal and molecular/genetic characteristics.
The evolution of the concept of PM towards a systems approach has important implications for how we consider the boundary between healthcare, health research and their financing; the balance between individuals' rights and benefits to society in relation to data sharing, privacy and informed consent; evaluation methodologies and standards. As pointed out in a series of recent articles there is currently a controversy whether the changes relevant for the development and implementation of PM technologies needs to be answered mainly on the level of research regulation or whether these changes require the rethinking of fundamental concepts such as the strict distinction between research and practice or therapy.[6–8] As pointed out, the strict distinction between research and practice becomes awkward when thinking about practice within a learning healthcare environment. Also, when considering what research subjects understand about therapeutic trials, the distinction between 'treatment' and research (the therapeutic misconception) seems overly pedantic. However, not all agree.
The magnitude of investments that will be required for the evolution of PM to a systems level, will influence relationships and partnerships between industry, for-profit and public not-for-profit players and will affect operational and governance issues related to the essential elements of a PM systems approach (e.g., large secure data systems; networked communications technologies; and the implementation and monitoring of biobanking standards). The integration of all of the above with clinical/administrative data on resource utilization will furthermore call for more transparency to the public in how these linked systems work and the risks involved.
Together, these developments, if adopted, promise to significantly change the healthcare landscape where the label 'paradigm shift' may be accurate. Such developments imply the need to re-examine our traditional evaluation mechanisms including ethical standards and frameworks. The changes proposed for the establishment of a 'PM' health system will require vast amounts of financial investment, creation of new kinds of partnerships and expansion of existing ones, and will take considerable time to achieve. Furthermore, these changes will require considerable public engagement to re-frame the healthcare system landscape. This includes balanced messages about what the system can and cannot achieve, and at what cost. There will need to be new levels of transparency with adequate disclosure of the nature of the emerging partnerships in order to maintain the public's trust. As acknowledged in the biobanking and privacy literature, the sustainability of any public enterprise such as this can be threatened by lack of public confidence.[10–15]
Personalized Medicine. 2014;11(4):413-423. © 2014 Future Medicine Ltd.