Rare Diseases Epidemiology
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Beschreibung
'Rare Diseases Epidemiology' offers numerous approaches to increase the knowledge base of rare diseases and conditions and to facilitate the development and dissemination of interventions for the prevention, diagnosis, or treatment of over 6500 diseases and conditions. The goals of epidemiology are not restricted merely to providing numerical data on the prevalence or incidence of diseases in a limited or general population. Analyses of epidemiological data gathered from appropriately designed and conducted studies are required to establish public health policies and priorities in all nations. Information gained from these studies lead to a better understanding of the etiology and the impact of genetic or environmental factors on the occurrence and outcome of these disorders.
The term Rare Diseases includes both acquired and inherited disorders. 'Rare Diseases Epidemiology' provides methods and approaches from the collective experiences of established research investigators who address these significant issues of the development of patient registries; the collection, storage and selected distribution of bio-specimens from bio-banking activities; the validation and utilization of genetic testing and newborn screening procedures; the presentation of issues related to the importance of case reports to increase knowledge of rare diseases; the challenges and models for population-based surveillance studies for rare congenital and inherited disorders; the statistical methods for the geographical analyses of rare diseases; the value and need for clinical trials and comparative effective studies; and meeting the requirements of regulatory agencies.
Economic, societal, and ethical concerns are presented as patients and families encounter difficulties obtaining the correct diagnosis, gaining access to treatments, and receiving coverage or reimbursement for approved interventions, and for developing a public understanding of the costs to patients and their families and the burden of illness affecting the quality of life of millions of patients with rare diseases and conditions. Framework programs for rare diseases research as developed by the European Union and the value of national plans for individual member countries are discussed and represent the public commitment to patients with rare diseases. Likewise, similar programs have been implemented in the USA as a result of the Orphan Drug Act to address the needs of the rare diseases community.
This inclusive text is the first publication to address rare diseases as a public health problem. The work analyzes the constraints on epidemiological research at the same time as supplying solutions. It organizes the data by rare diseases groups.
In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiologic study as the singular substitute for these. With this sentence, the famous epidemiologist Professor Olli S. Miettinen began his personal re ection on the future of the epidemiology [1]. He sought to highlight the fact that the role of the epidemiologist should be mainly focused on aetiological research. Nevertheless, the widespread idea still exists that epidemiology is limited to purely providing gures and descriptive data on the frequency and distribution of disease. Indeed, it is more than likely that the precise aim of those rst classic epidemiological steps, i. e. , methods essentially based on describing the distri- tion of a given disease, is still not all that well understood by many scientists, let alone the general public. Such descriptions seek to generate hypotheses and afford explanations for key factors (be these risk factors or the presumable causes th- selves), which might justify differences in terms of persons, time or place and, in turn, ultimately serve to develop preventive measures and/or gain quality-adjusted life years. To restrict the goals of epidemiology to activities exclusively concerned with reporting gures or even complex statistical results is a great mistake, one that renders it dif cult to take full advantage of the epidemiologist’s true role, which is “to study disease determinants and to assess the actual impact of factors involved in their development, distribution and dissemination”.
It is the first book edited on Rare Diseases Epidemiology Develops a comprehensive approach to the rare diseases epidemiological problems Teach the best knowledge currently available Opens future perspectives for health planning and decision making Provides a general framework for physicians, public health experts and basic researchers
Autor*in
Manuel Posada de la Paz
Themen in »Rare Diseases Epidemiology«
Biobank Epidemiologic Research Health Economics Human Genetic Orphan Drugs Public Health Rare Diseases cancer epidemiological epidemiological methods epidemiology prevention public health problem social epidemiology
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From the reviews:
“It covers the common components of epidemiology and its collaborating disciplines to demonstrate the concepts, methods, and examples of the epidemiology of rare diseases. … it is a useful resource for epidemiologists, the book can be used by other researchers and by funding agencies, foundations, and policy makers. … This is an important state-of-the-art book in rare disease epidemiology. … an extremely important contribution to the field and will be a useful reference in several disciplines.” (James C. Torner, Doody’s Review Service, July, 2011)
“The book is very well written, and deals with its subject delineated above comprehensively. … the amount of information presented is very impressive. The multitude of the data presented in the reviewed work make it indispensable for anyone potentially active in the field of the rare diseases … . this volume will remain the major reference book for quite some time, and highly recommend it to the healthcare planners, general practitioners and those specializing in the field of the rare diseases … .” (K. Pagava and I. Paghava, Georgian Medical News, Vol. 193 (4), 2011)
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