Angela Brand

The impact of genetics and genomics on public health.

Public health practice has to date concerned itself with environmental or social determinants of health and disease and has paid scant attention to genomic variations within the population. The advances brought about by genomics are changing these perceptions. In the long run, this knowledge will enable health promotion messages and disease prevention programmes to be specifically directed at susceptible individuals and families, or at subgroups of the population, based on their genomic risk profile. As the controversial discourse in science and health politics shows, the integration of genomics into public health research, policy and practice is one of the major challenges that our health-care system is currently facing.

Genome-Based Health Literacy: A New Challenge for Public Health Genomics

So far health literacy has not been sufficiently discussed in the context of public health genomics. Primarily, not genomic but rather genome-based health information needs to be addressed taking into account genome-environment interactions and integrating all health determinants including genomics into a systemic and holistic approach. Translating findings from epigenomics and systems biomedicine will help to understand that individual biological pathways or networks are permanently interacting with environmental networks such as social networks. Thus, in the end also health literacy will become personalized. Genome-based health literacy is challenged by the question of which information is relevant for the individual, for what purpose, and at what time during the lifespan. Public health tools and expertise already in place can and should be used to tackle these huge challenges.

Improving data and knowledge management to better integrate health care and research

This review is based on the debates held in Barcelona from 3 July 2012 to 4 July 2012 with the active participation of all authors. The debates were organized by B-Debate (an initiative of Biocat and Obra Social ‘La Caixa’) and Universitat Pompeu Fabra (Barcelona). The event was held within the framework of the European INBIOMEDvision project (funded by the EU Seventh Framework Programme for Research and Technological Development (FP7) under grant agreement no. 270107). In addition, we received support from EU FP7 project no. 200754 (GEN2PHEN) and the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115002 (eTOX) and no. 115191 (Open PHACTS), resources of which are composed of financial contribution from the EU FP7 and in kind contributions from companies of the European Federation of Pharmaceutical Industries and Associations. L.I.F received support from Instituto de Salud Carlos III Fondo Europeo de Desarollo Regional (CP10/00524).

Sample, data use and protection in biobanking in Europe: legal issues

The sharing of samples and data stored in biobanks for research has implications for donor privacy, but also raises questions on the regulation of research within Europe. Many legal documents and principles within Europe, with a direct impact on biobanking, have not been developed specifically to support this activity. Moreover, while some new regulations have been set up at national level, there are many variations in the definitions, scope and purpose of these legal instruments. This has resulted in unnecessary hurdles for genome-based research, particularly if samples are shared across national borders. The question is also raised on whether new, specific legislative and governance frameworks designed for biobanking are needed, or whether it is sufficient to modify current general law and to develop specific guidelines, or to accommodate issues raised by biobanking in the current regulation. A workshop with experts from academia and industry, lawyers, national data protection authorities, representatives from the European Commission and the European Data Protection Supervisor was held to review the existing legal bottlenecks and future needs of biobanking, with special regard to the collection, exchange and linkage of samples and data. This report presents highlights of the presentations and discussions from the workshop held in Sevilla, Spain, in March 2007 and the conclusions that followed. The workshop focused on the internal linkage of data and samples stored in a biobank, and the external linkage of biobanks with secondary information resources, such as cancer registries.

Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today

Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today

Biobanking for Epidemiological Research and Public Health

Almost all healthcare systems are currently facing fundamental challenges. New ways of organizing these systems based on novel knowledge and stakeholders’ different needs are required to meet these challenges at the appropriate time. In this context, the issue of biobanking has become a specific challenge having major implications for future research and policy strategies as well as for the healthcare systems in general. Medicine is currently undergoing remarkable developments from its morphological and phenotype orientation to a molecular and genotype orientation, promoting the importance of prognosis and prediction. Yet, the discussion about the relevance of integrating genome-based information into biobanks and about the role of genome-based biobanking for epidemiological research and public health is still at the beginning. The following article contributes to this discussion by focusing on the use of genome-based biobanking for epidemiological research, surveillance systems, health policy development, individual health information management and effective health services.

The Contribution of Health Technology Assessment, Health Needs Assessment, and Health Impact Assessment to the Assessment and Translation of Technologies in the Field of Public Health Genomics

The European Union has named genomics as one of the promising research fields for the development of new health technologies. Major concerns with regard to these fields are, on the one hand, the rather slow and limited translation of new knowledge and, on the other hand, missing insights into the impact on public health and health care practice of those technologies that are actually introduced. This paper aims to give an overview of the major assessment instruments in public health [health technology assessment (HTA), health needs assessment (HNA) and health impact assessment (HIA)] which could contribute to the systematic translation and assessment of genomic health applications by focussing at population level and on public health policy making. It is shown to what extent HTA, HNA and HIA contribute to translational research by using the continuum of translational research (T1–T4) in genomic medicine as an analytic framework. The selected assessment methodologies predominantly cover 2 to 4 phases within the T1–T4 system. HTA delivers the most complete set of methodologies when assessing health applications. HNA can be used to prioritize areas where genomic health applications are needed or to identify infrastructural needs. HIA delivers information on the impact of technologies in a wider scope and promotes informed decision making. HTA, HNA and HIA provide a partly overlapping and partly unique set of methodologies and infrastructure for the translation and assessment of genomic health applications. They are broad in scope and go beyond the continuum of T1–T4 translational research regarding policy translation.

Health technology assessment in the era of personalized health care

OBJECTIVES This article examines the challenges for health technology assessment (HTA) in the light of new developments of personalized health care, focusing on European HTA perspectives. METHODS Using the example of the Integrated Genome Research Network - Mutanom (IG Mutanom) project, with focus on personalized cancer diagnostics and treatment, we assess the scope of current HTA and examine it prospectively in the context of the translation of basic and clinical research into public health genomics and personalized health care. RESULTS The approaches developed within the IG-Mutanom project are based on innovative technology potentially providing targeted therapies for cancer; making translation into clinical practice requires a novel course of action, however. New models of HTA are needed that can account for the unique types of evidence inherent to individualized targeted therapies. Using constructive health technology assessment (CTA) models is an option, but further suitable models should be developed. CONCLUSIONS Integrative, systems biology-based approaches toward personalized medicine call for novel assessment methods. The translation of their highly innovative technologies into the practice of health care requires the development of new HTA concepts.

Health literacy and public health genomics: Innovation management by citizens

man genetics is more about keeping the shop closed than serving the public’s health. However, things are beginning to change. The innovation of the internet has paved the way for the success of social networks in which citizens (including patients!) now have direct access to information and contact with people who share their problems and beliefs. In this editorial the expression ‘citizen’ is used in its meaning of the French ‘citoyen’, i.e. the politically mature and responsible citizen. This democratization of information poses a threat to many health professionals by challenging their expertise. The argument that there is a lot of ‘garbage’ on the internet is a valid one, but whose job is it to separate one bit of information from the other? In addition, what information is useful to the person at what time for what purpose? If not the citizen herself or himself, who else can decide? Here health literacy (HL) comes in. The ability to access, understand, appraise, and apply health information – the four dimensions of HL [2] – will be a cornerstone for the citoyen of the future. The interest in HL is not only a ‘bottom-up’ movement empowering the citizen. Also governments would like to offer citizens more choices – even in healthcare. But how far can or should they go? That is one of the reasons why the European Commission has funded the development It is difficult to implement an innovation. Often innovations are neither desired nor welcomed at all. You interfere with a status quo everybody seems to be happy and at terms with. Also, of course, it depends on the position or expectations you have regarding the innovation. For example, there has been a strong and continuing resistance from the medical profession to accept a nonmedical public health intervention for the prevention of sudden infant death (SIDS): simply putting babies in a supine position and avoiding a prone position instead of performing ‘fancy’ blood tests or having a medical intervention. Such a resistance prolongs the diffusion of an idea and thus the timely implementation of an innovation. In the case of SIDS in several European countries this took even more than 2 decades [1] . Some approaches of the social sciences, on the other hand, still have reservations against innovations in the field of genomics per se, and persistently narrow genomebased health information down to genetic tests for dreadful monogenic diseases. The same arguments applied against the use of genome-based information are now, for instance, used in the discussion of nanotechnologies. But also professional bodies play an important role here: the idea that any genomic test – even for multifactorial diseases which are always based on genome-environment interactions – should be performed by a specialist in huPublished online: July 5, 2011

Getting Ready for the Future: Integration of Genomics into Public Health Research, Policy and Practice in Europe and Globally

The integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. The next decade will provide a window of opportunity to establish infrastructures that will enable the scientific advances to be translated into evidence-based policies and interventions that improve population health. Approaches for national, European and international institutionalization of public health genomics are shown that aim to champion these challenges.