The following glossary contains definitions of key terms used in the RARE-Bestpractices project.
The aim of the RARE-Bestpractices glossary is to ensure understanding and consistent use of core terminology relating to rare diseases, evidence-based medicine, health care delivery and healthcare decision making tools such as health care guidelines and health technology assessment documents . The RARE-Bestpractices glossary is the result of a multidisciplinary collaboration of experts of the RARE-Bestpractices consortium in the area of rare disease epidemiology, public health as well as in health care guideline, health technology assessment, and systematic review development and use.
The PFD version of the RARE-Bestpractices glossary contains a preamble and references for each key term along with a description of the methodology used to develop this glossary (click here).

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• Adaptive pathway (formerly known as "adaptive licensing"): An initial approval of a treatment in a well-defined patient subgroup with a high medical need and subsequent widening of the indication to a larger patient population, or an early regulatory approval (e.g. conditional approval) which is prospectively planned , and where uncertainty is reduced through the collection of post-approval data on the medicine’s use in patients.
• Advisory Board: A group of people formed of international experts representing the major stakeholders involved in the clinical management of patients with rare diseases, in evidence-based medicine, and in developing evidence-based health care policies.
• AGREE II instrument: AGREE II is a reliable and validated tool to assess the methodological rigour and transparency in which a guideline is developed. (http://www.agreetrust.org/)
• Best available evidence: The evidence which is judged to be strongest and the most reliable for any given topic.
• Best practice statement: A statement to direct the best achievable practice in specific areas of care emphasising the delivery of care that is patient centred, feasible and fair.
• Carer: A person, paid or unpaid, who regularly provides care to a person because they are ill, frail or have a disability.
• Case-control study: A study that compares people with a specific disease or outcome of interest (cases) to people from the same population without that disease or outcome (controls), and which seeks to find associations between the outcome and prior exposure to particular risk factors.
• Case-series study: A study reporting observations on a series of individuals, usually all receiving the same intervention, with no control group.
• Classification of diseases: Grouping of diseases with common characteristics.
• Clinical recommendation: Clinical recommendations provide guidance on how healthcare and other professionals should care for people with specific conditions.
• Clinical research: Research conducted with human subjects.
• Cochrane Collaboration: An international organization of clinicians, epidemiologists, other professionals, and patients that aims to help people make well informed decisions about health care by preparing, maintaining, and ensuring the accessibility of systematic reviews of the effects of healthcare interventions. (http://www.cochrane.org/)
• Cohort study: A observational study that begins with the gathering of two matched groups (the cohorts), one which has been exposed to a prognostic factor, risk factor or intervention and one which has not ( or it is exposed at different levels). The groups are then followed forward in time (prospective) to measure the development of different outcomes. In a retrospective cohort study, cohorts are identified at a point of time in the past and information is collected on their subsequent outcomes.
• Compassionate use : A treatment option that allows the use of an unauthorised medicine.
• Consensus process: In health care guideline consensus process is an approach that enable the multidisciplinary group to reach an agreement on a particular issue (e.g. decide on the relevant outcomes, on the inclusions and exclusion criteria of the study, the recommendations).
• Consumers: A person who is receiving or may receive services.
• Cost-benefit analysis: An economic evaluation which compares costs and benefits of at least two technologies where the benefits or outcomes are measured in financial terms.
• Cost-effectiveness analysis: An economic evaluation which compares costs and benefits of at least two technologies where the benefits or outcomes are measured in natural units (e.g. life years gained).
• Critical appraisal: The process of assessing and interpreting scientific research results by systematically analysing their validity, clinical and statistical significance, and clinical relevance.
• Cross-sectional study/prevalence study: A study measuring the distribution of some characteristic(s) in a population at a particular point in time. Also called: prevalence study.
• DALY (Disability-adjusted life year): One DALY can be thought of as one lost year of "healthy" life. The sum of these DALYs across the population, or the burden of disease, can be thought of as a measurement of the gap between current health status and an ideal health situation where the entire population lives to an advanced age, free of disease and disability.
• Database: Any of a wide variety of repositories (often computerized) for observations and related information about a group of individuals, a disease, an intervention or other events or characteristics, typically organized for easy search and retrieval.
• Diagnostic test: A procedure to provide information about a person's condition that helps health care providers to make a diagnosis.
• Dissemination: Any process by which information is transmitted (made available or accessible) to intended audiences or target groups.
• Econimic Evaluation: The comparative analysis of the costs and consequences of two or more possible options.
• Efficacy and Effectiveness: Efficacy: The extent to which an intervention produces a beneficial result under ideal conditions. Effectiveness: The extent to which a specific intervention, when used under ordinary circumstances, does what it is intended to do.
• Epidemiology: The study of the causes, distribution, control and prevention of disease.
• European Commission: The executive body of the European Union.
• Evidence-based practice: Decisions about patient care based on clinical expertise, patient values, and the best research evidence available.
• General Assembly: A group of people constituted by a representative for each Beneficiary (project’s participants) in charge for contractual issues.
• GRADE approach: A systematic and explicit approach to grading the quality of evidence and the strength of recommendations. (http://www.gradeworkinggroup.org/)
• Health care guideline: Health care guidelines are systematically developed statements by a systematic review of evidence and an assessment of the benefits and harms of alternative care options, which assist providers, patients and stakeholders to make informed decisions about appropriate health care for specific circumstances, including clinical interventions, public health activities, or government policies. Health care guidelines provide recommendations that describe in detail what the recommended action is and under what circumstances it should be performed.
• Health care policies: A formal statement or procedure within an institution (notably government) which defines goals, priorities and the parameters for action in response to health needs, within the context of available resources.
• Health care provider: Individuals working in the provision of health services, whether as individual practitioners or employees of health institutions and programs, whether or not professionally trained, and whether or not subject to public regulation. Also includes those institutions or programs that offer health services.
• Health technology assessment (HTA): The systematic evaluation of the properties and effects of a health technology, addressing the direct and intended effects of this technology, as well as its indirect and unintended consequences, and aimed mainly at informing decision making regarding health technologies.
• Health utilities: Utilities are cardinal values that represent the strength of an individual’s preferences for specific health-related outcomes.
• Horizon scanning: The systematic identification of health care interventions in development that could have important effects on future health care delivery.
• Implementation: Methods to promote the uptake of research findings into routine healthcare in clinical, organisational or policy contexts.
• Indirect comparison: comparison of different healthcare interventions using data from separate studies.
• Meta-analysis: A statistical method that consists of systematically combining results from different studies to obtain a quantitative estimate of the overall effect of a particular intervention or variable.
• Non-randomised studies: Any study that does not use randomisation to allocate units to comparison groups (including studies where "allocation" occurs in the course of usual treatment decisions or peoples’ choices, i.e. studies usually called "observational") estimating the association between an exposure (e.g. an intervention or a risk factor) and the effect of exposure (e.g. harm, benefit, or incidence of disease) against some control intervention (or no intervention).
• Orphan drug: An orphan medicinal product (also known as orphan drug and orphan medicine) is intended for the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition affecting not more than five in ten thousand persons in the Community when the application is made.
• Palliative care: An approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness, through the prevention and relief of suffering by means of early identification and impeccable assessment and treatment of pain and other problems, physical, psychosocial and spiritual.
• Partner: A person who takes part in an undertaking with another or others, especially in a business or firm with shared risks and profits.
• Patient: An individual seeking or receiving medical care.
• Platform infrastructure: A web system and services developed, implemented and maintained to enable collection, access and exchange of knowledge and information to intended audiences and or target groups.
• Policy maker: A person responsible for or involved in formulating policies.
• Quality of care: Quality of care is the degree to which health services for individuals and populations increase the likelihood of desired health outcomes and are consistent with current professional knowledge.
• Quality of evidence: In the context of a systematic review, the ratings of the quality of evidence reflect the extent of our confidence that the estimates of the effect are correct. In the context of making recommendations, the quality ratings reflect the extent of our confidence that the estimates of an effect are adequate to support a particular decision or recommendation.
• Quality standard: A statement, against which performance can be measured, on the standard of care patients should expect from a health care service.
• Randomised controlled trial: An experimental comparison study in which participants are allocated via a randomisation mechanism (by chance) to either an intervention/treatment group or a control /placebo group, then followed over time and assessed for the outcomes of interest. Participants have an equal chance of being allocated to either group.
• Rare disease: A disease characterised by low prevalence. In Europe this is defined as a disease affecting no more than 5 in 10,000 persons.
• Registry: A file in which is registered, on an ongoing basis, information concerning all cases of a given disease or other problem in a defined population, such that the cases may be related to the database concerning that population.
• Research recommendation: Statements that explicitly outline uncertainties identified through the systematic review of scientific literature and encourage research in relevant topics.
• Screening: Using tests or other methods of diagnosis to find out whether or not an apparently well person has a specific disease or condition before it causes any symptoms.
• Systematic review: A review of a clearly formulated question that uses systematic and explicit methods to identify, select, and critically appraise relevant research, and to collect and analyze data from the studies that are included in the review. Statistical methods (meta-analysis) may or may not be used to analyze and summarize the results of the included studies.
• Stakeholder: People or groups who have an involvement or interest in a project.
• Standard: A quality, measure or reference point established as a rule or model by authorities, custom or general consent, against which things can be evaluated or should conform.
• Steering committee: A group of people constituted by the Project Coordinator, the Project Manager and Work Package leaders.
• Strength of recommendations: The strength of a recommendation is defined as the extent to which one can be confident that the desirable consequences of an intervention outweigh its undesirable consequences.
• Web community: A web community is a web site (or group of web sites) where specific content or links are only available to its members. A web community may take the form of a social network service, an Internet forum, a group of blogs, or another kind of social software web application.

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