Search

Artificial intelligence (AI) is changing the world we live in, and it has the potential to transform struggling healthcare systems with new efficiencies, new therapies, new diagnostics, and new economies. Already, AI is having an impact on healthcare, and new prospects of far greater advances open up daily. This paper sets out how AI can bring new precision to care, with benefits for patients and for society as a whole. But it also sets out the conditions for realizing the potential: key issues are ensuring adequate access to data, an appropriate regulatory environment, action to sustain innovation in research institutes and industry big and small, promotion of take-up of innovation by the healthcare establishment, and resolution of a range of vital legal and ethical questions centred on safeguarding patients and their rights. For Europe to fulfil the conditions for success, it will have to find a new spirit of cooperation that can overcome the handicaps of the continent's fragmented technical and legal landscape. The start the European Union has made shows some ambition, but a clearer strategic vision and firmer plans for implementation will be needed. The European Alliance for Personalised Medicine (EAPM) has listed its own priorities: data, integrating innovation into care, building trust, developing skills and constructing policy frameworks that guarantee infrastructure, equitable access, and legal clarity. [ABSTRACT FROM AUTHOR]

Personalised medicine promises to revolutionise healthcare, with its key goal of providing the right treatment to the right patient at the right time, and thus the potential of improving quality of life and helping to bring down healthcare costs. However, a major problem with broader implementation of personalised medicine is patient access to new drugs, devices and treatments. The fact that a new medicine or innovative product can sometimes take as long as 20 years to get from bench to bedside is not only clearly undesirable but is arguably unacceptable in the 21st century. This paper looks in detail at the issues surrounding development, continued investment, risk factors, testing and approval from both the industry perspective as well as that of the assessor and the decision maker/payer. It becomes clear that there is a lack of working in tandem that results in a double time frame (two times 10 years). This is simply because the key stakeholders, surprisingly, do not synergise their assessments of a new product. As well as causing delays in patient access, this can also affect investment confidence as industry waits too long for approval for its product to reach the market and its subsequent implementation into healthcare. Such a slow process undermines continued investment and contributes to a risk-averse environment, which in turn can have an impact on innovation. The solution appears to be uncomplicated, involving better coordination and collaboration between the different stakeholders working at various stages within the bench-to-bedside timeframe. We take the example of the network of the European Alliance for Personalised Medicine (EAPM) to demonstrate possible solutions using an innovative approach. [ABSTRACT FROM AUTHOR]

Every tumour is different. They arise in patients with different genomes, from cells with different epigenetic modifications, and by random processes affecting the genome and/ or epigenome of a somatic cell, allowing it to escape the usual controls on its growth. Tumours and patients therefore often respond very differently to the drugs they receive. Cancer precision medicine aims to characterise the tumour (and often also the patient) to be able to predict, with high accuracy, its response to different treatments, with options ranging from the selective characterisation of a few genomic variants considered particularly important to predict the response of the tumour to specific drugs, to deep genome analysis of both tumour and patient, combined with deep transcriptome analysis of the tumour. Here, we compare the expected results of carrying out such analyses at different levels, from different size panels to a comprehensive analysis incorporating both patient and tumour at the DNA and RNA levels. In doing so, we illustrate the additional power gained by this unusually deep analysis strategy, a potential basis for a future precision medicine first strategy in cancer drug therapy. However, this is only a step along the way of increasingly detailed molecular characterisation, which in our view will, in the future, introduce additional molecular characterisation techniques, including systematic analysis of proteins and protein modification states and different types of metabolites in the tumour, systematic analysis of circulating tumour cells and nucleic acids, the use of spatially resolved analysis techniques to address the problem of tumour heterogeneity as well as the deep analyses of the immune system of the patient to, e.g., predict the response of the patient to different types of immunotherapy. Such analyses will generate data sets of even greater complexity, requiring mechanistic modelling approaches to capture enough of the complex situation in the real patient to be able to accurately predict his/her responses to all available therapies. [ABSTRACT FROM AUTHOR]

Personalised medicine is a newly emerging field with much to offer to all populations in improved clinical treatment options. Since the 1970s, clinicians and researchers have all been working towards improving the health of Indigenous Australians. However, there has been little research on the impact of genetics on Indigenous health, how genetic and environmental factors interact to contribute to poor health in Indigenous people, and how genetic factors specific to Indigenous people affect their responses to particular treatments. This short review highlights the urgent need for more genetic studies specific to Indigenous people in order to provide more appropriate care and to improve health outcomes. This paper explores why genetic work with Indigenous communities has been limited, how personalised medicine could benefit Indigenous communities, and highlights a number of specific instances in which personalised medicine has been critical for improving morbidity and mortality in other high-risk groups. In order to take the next step in advancing the health of Indigenous peoples, targeted research into the genetic factors behind chronic diseases is critically needed. This research may allow clinicians a better understanding of how genetic factors interact with environmental factors to influence an Indigenous Australian's individual risk of disease, prognosis, and response to therapies. It is hoped that this knowledge will produce clinical interventions that will help deliver clearly targeted, more appropriate care to this at-risk population. [ABSTRACT FROM AUTHOR]

In the aftermath of the economic crisis that started in 2008, resources have become scarcer than ever in some countries, also in health care. Priority setting and rationalisation of existing resources also affect pharmaceutical innovations, including those that would contribute to what is called personalised medicine. In this paper, we will highlight the ethical issues surrounding rationalisation and its impact on personalised medicine through the lens of the capability approach. Thereby, challenges to and opportunities for personalised medicine will be examined, assessing how they affect patients' 'real options' to access innovative therapies. In our focus on the 'first challenge: citizens and patients' of the so-called Strategic Research and Innovation Agenda, the strength of the capability approach becomes particularly apparent in identifying what different values are at stake in this context. [ABSTRACT FROM AUTHOR]

Molecular diagnostics can offer important benefits to patients and are a key enabler of the integration of personalised medicine into health care systems. However, despite their promise, few molecular diagnostics are embedded into clinical practice (especially in Europe) and access to these technologies remains unequal across countries and sometimes even within individual countries. If research translation and the regulatory environments have proven to be more challenging than expected, reimbursement and value assessment remain the main barriers to providing patients with equal access to molecular diagnostics. Unclear or non-existent reimbursement pathways, together with the lack of clear evidence requirements, have led to significant delays in the assessment of molecular diagnostics technologies in certain countries. Additionally, the lack of dedicated diagnostics budgets and the siloed nature of resource allocation within certain health care systems have significantly delayed diagnostics commissioning. This article will con-sider the perspectives of different stakeholders (patients, health care payers, health care professionals, and manufacturers) on the provision of a research-enabled, patientfocused molecular diagnostics platform that supports optimal patient care. Through the discussion of specific case studies, and building on the experience from countries that have successfully integrated molecular diagnostics into clinical practice, this article will discuss the necessary evolutions in policy and health technology assessment to ensure that patients can have equal access to appropriate molecular diagnostics. [ABSTRACT FROM AUTHOR]

Personalised health care is an evolution, moving away from a disease-focused model of care, translating scientific and technological advances into benefits for patients, and placing them at the centre of the patients' health and care. Companion diagnostics emerge as a very specific and special group of in vitro diagnostics among the different technologies shaping the personalised health care spectrum. Companion diagnostics provide highly valuable information, allowing patients, health practitioners and payers to decide with a higher level of certainty on the potential benefits of a treatment or care pathway. Decreasing uncertainty may result in a more efficient selection of treatments and care, targeted at subpopulations that are most likely to benefit. Companion diagnostics account for a minimal portion of the already small expenditure on in vitro diagnostics (far less than 1% of total health care expenditure), and yet they provide the means to limit inefficient use of health care resources while optimising patient outcomes. It is clear that equal access to personalised health care is still an issue across the EU. One of the most common perceived barriers is affordability. The investment in companion diagnostics can provide long-term value for patients and health care systems, shifting resources to areas of need. Health systems do not fully recognise yet the value that companion diagnostics bring to make personalised health care more affordable across the EU. This inhibits patient access to personalised treatments and care, preventing improved outcomes. In many countries, market access frame-works for diagnostic tests are fragmented and not aligned with specific funding and reimbursement mechanisms, discouraging the use of these tests. Emerging evidence shows that patients are missing out on the appropriate tests and treatments while a reduction in the inefficient use of health care resources is not realised. This article outlines some of these market access barriers for companion diagnostics in the EU, including reimbursement challenges specific to some member states (Germany, the UK, and France). Furthermore, proposals addressing barriers and increasing timely patient access to companion diagnostics in the EU are presented. [ABSTRACT FROM AUTHOR]

While personalised cancer medicine holds great promise, targeting therapies to the biological characteristics of patients is limited by the number of validated biomarkers currently available. The implementation of biomarkers has undergone many challenges with few biomarkers reaching cancer patients in the clinic. There have been many biomarkers that have been published and claimed to be therapeutically useful, but few become part of the clinical decision-making process due to technical, validation and market access issues. To reduce this attrition rate, there is a significant need for policy makers and reimbursement agencies to define specific evidence requirements for the introduction of biomarkers into clinical practice. Once these requirements are more clearly defined, in an analogous manner to pharmaceuticals, researchers and diagnostic companies can better focus their biomarker research and development on meeting these specific requirements, which should lead to the more rapid introduction of new molecular oncology tests for patient benefit. © 2015 The Author(s) Published by S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The drivers of precision medicine are clear: for patients (and physicians) - more options, durable clinical benefit, reduced exposure to non-effective drugs and potential to leverage current scientific and technological advances; for the pharmaceutical industry - the potential to tackle core challenges in discovering and developing better and more efficacious medicines, to reduce rates of attrition in drug development and to reduce development costs; for healthcare systems and payers - improved efficiency through the provision of effective care and avoiding ineffective treatments. Oncology has been at the vanguard, the improvements gained in patient survival notable. However, the increasing number of molecular subgroups requires an equally increasing number (and new generation) of highly selective agents targeting inevitably lower incidence molecular segments. Innovative trial designs (umbrella/basket studies) are emerging as a patient-centric approach to drug development, and the rise in public-private partnerships, cross-industry, government and non-profit sector collaborations is enabling implementation of complex clinical trial designs. This poses significant challenges for healthcare systems and regulatory approval. Further substantial evolution of policy and processes, particularly regulatory requirements for approval for new therapeutics, are required. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Every patient is different - his/her genomes, environment, disease history and exposure to drugs. Tumours, in particular, are often heterogeneous in their genetic make-up and their response to drugs, both within and between samples. Classic clinical trials basically ignore this complexity or, as in stratified medicine, attempt to reduce it to an analysis of a small number of still enormously heterogeneous patient groups. Medicine, however, is not the only area in which we are faced with such complex 'n = 1' (every individual case is different) situations. The weather we experience today, characterised by tens of terabytes of measurement data, has never occurred before and will never occur again. Similar to the situation in medicine, we cannot predict the development of today's weather by looking for identical weather conditions in the past, and we cannot, in real life, test drugs for every individual patient in clinical trials with large numbers of biologically identical patient replicas. We can, however, do it with the help of models duplicating the 'n = 1' situation on the computer, an approach which will also have to be used in both patient treatment and prevention as well as drug development in the future if we do not want to continue to make dangerous and expensive mistakes in real life. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The convergence of new biological insights from sequencing, digital technologies and advanced bioinformatics tools are creating new opportunities to advance cancer care for individual patients. Fully realising this potential will require the integration and alignment of multiple stakeholders across the healthcare system. To increase the speed in which personalised medicine discoveries are translated into clinical practice and accessible to patients requires appropriately conducted clinical research with input and usage by patients, healthcare providers, regulatory authorities and policy makers. These stakeholders need to align in establishing the right evidence to facilitate clinical research and access to personalised treatments addressing the needs of targeted populations. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Personalised medicine (PM) is an innovative way to produce better patient outcomes by using an individualised or stratified approach to disease and treatment rather than a collective treatment approach for patients. Despite its tangible advantages, the complex process to translate PM into the member states and European healthcare systems has delayed its uptake. The aim of this study is to identify relevant barriers represented by an index to summarise challenging areas for the implementation of PM in Europe. Methods: A systematic literature review was conducted, and a gaps-and-needs assessment together with a strengths-weaknesses-opportunities-and-threats analysis were applied to review strategic reports and conduct interviews with key stakeholders. Furthermore, surveys were sent out to representatives of stakeholder groups. The index was constructed based on the priorisation of relevant factors by stakeholders. Results: A need for stakeholder-agreed standards at all levels of implementation of PM exists, from validating biomarkers to definitions of 'informed consent'. The barriers to implement PM are identified in 7 areas, namely, stakeholder involvement, standardisation, interoperable infrastructure, European-level policy making, funding, data and research, and healthcare systems. Conclusions: Challenges in the above-mentioned areas can and must be successfully tackled if we are to create a healthier Europe through PM. In order to create an environment in which PM can thrive for the patients' best outcomes, there is an urgent need for systematic actions to remove as many barriers as possible. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Public health practice will not be able in the 21st century to ignore the impact of genomics, cell and molecular biology. It will need to take into consideration issues that include, among others: the complementary nature of social and biological models of disease, genetic exceptionalism, the readiness of public and patient to respond to genomic information, the relationship between individuals and populations, and concepts of population stratification. Health systems will need to adapt their practice and organisation to include new sequencing technologies, bioinformatic expertise and proper evaluation of genetic and molecular tests. Links with the commercial sector will increase in importance. The impact on developing countries cannot be ignored and will require special attention. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]