The GRAIL concept modelling language for medical terminology.

The GALEN representation and integration language (GRAIL) has been developed to support effective clinical user interfaces and extensible re-usable models of medical terminology. It has been used successfully to develop the prototype GALEN common reference (CORE) model for medical terminology and for a series of projects in clinical user interfaces within the GALEN and PEN&PAD projects. GRAIL is a description logic or frame language with novel features to support part-whole and other transitive relations and to support the GALEN modelling style aimed at re-use and application independence. GRAIL began as an experimental language. However, it has clarified many requirements for an effective knowledge representation language for clinical concepts. It still has numerous limitations despite its practical successes. The GRAIL experience is expected to form the basis for future languages which meet the same requirements but have greater expressiveness and more soundly based semantics. This paper provides a description and motivation for the GRAIL language and gives examples of the modelling paradigm which it supports.

A Terminology Server for medical language and medical information systems.

GALEN is developing a Terminology Server to support the development and integration of clinical systems through a range of key terminological services, built around a language-independent, re-usable, shared system of concepts--the CORE model. The focus is on supporting applications for medical records, clinical user interfaces and clinical information systems, but also includes systems for natural language understanding, clinical decision support, management of coding and classification schemes, and bibliographic retrieval. The Terminology Server integrates three modules: the Concept Module which implements the GRAIL formalism and manages the internal representation of concept entities, the Multilingual Module which manages the mapping of concept entities to natural language, and the Code Conversion Module which manages the mapping of concept entities to and from existing coding and classification schemes. The Terminology Server also provides external referencing to concept entities, coercion between data types, and makes its services available through a uniform applications programming interface. Taken together these services represent a new approach to the development of clinical systems and the sharing of medical knowledge.

Medical-concept models and medical records: an approach based on GALEN and PEN&PAD.

OBJECTIVES: To investigate the issues raised in applying a preliminary version of the GALEN compositional concept reference (CORE) model to a series of radiographic reports, and to demonstrate that the same underlying concept model could be used in conjunction with both a detailed, fine-grained model of medical records based on that used in the PEN&PAD project and with other more conventional medical-record models. DESIGN: Following analysis and representation of concepts from a set of reports, a single report was taken as a "case study." This report was analyzed in detail in its entirety and represented using each of the medical-record models. RESULTS: The reports were successfully represented within the limits of the study, but a number of significant issues were raised. CONCLUSION: The compositional approach plus the PEN&PAD medical-record model allowed detailed information in the radiographic report to be represented, including information about the inferences and the clinical process. The resulting representation was large, and more compact representations may be necessary for some systems. Alternative encapsulations of the information as might be used in such systems were successfully prepared. The compositional approach avoided many issues that often cause controversy in the design of traditional coding and classification systems, but it raised other issues, including the handling of ambiguity and underspecification, linkage to information not explicitly present in the report, and questions concerning the focus of individual concepts. All work is preliminary and definitive conclusions await further studies and systematic evaluation.

Constructing clinical applications: the GALEN approach.

A common problem for developers of clinical applications is coping with the diversity of medical language. Medical language as it is used all over the world varies widely, while the referents for these words stay essentially the same. Software developers must reconcile this diversity with the practical necessity of producing applications that are usable in a variety of hospitals, while ensuring that information can be shared between applications. Existing approaches center around coding and classification schemes, but these approaches must be supplemented by a range of sophisticated terminological services in order for the language barriers to be overcome. To address this, the GALEN project is developing an application called the Terminology Server to provide such a range of terminological services (e.g., conceptual and multilingual services). The software is built upon a re-usable core model of medical terminology. This paper reports on the development of a clinical application called the SCUI (Structured Clinical User Interface) which draws on these GALEN technologies and illustrates an innovative approach to the construction of future clinical applications. The SCUI was specifically developed and tested in the context of infectious diseases to satisfy the demands made by the medical intensive care unit on the Geneva Hospital's microbiology laboratory.

The GALEN project.

The GALEN project is developing language independent concept representation systems as the foundations for the next generation of multilingual coding systems. It aims to support the flexibility required to cope with the diversity amongst medical applications, while ensuring the coherence necessary for integration and re-use of terminologies. GALEN is developing a fully compositional and generative formal system for modelling concepts: the GALEN Representation and Integration Language (GRAIL) Kernel. Its goal is to overcome many of the problems with traditional coding and classification systems, in particular the combinatorial explosion of terms in enumerative systems and the generation of nonsensical terms in partially compositional systems. It will also provide a clean separation between the concept model and linguistic mechanisms which interpret that model (i.e., the words in a specific language, syntax, alternative phrasings, etc.) in order to allow the development of multilingual systems. GRAIL aims to be formally sound and produce models that are verifiable and contain no contradictions or ambiguities, with realistic human effort. A Coding Reference (CORE) Model of medical terminology covering is being developed which aims to represent the core concepts in for example pathology, anatomy and therapeutics, that have widespread applicability in medical applications. It should also provide the basis for specialist extensions according to the formal principles of GRAIL. The main results of GALEN will be delivered as a Terminology Server (TeS) which encapsulates and coordinates the functionality of the concept module, multilingual module, and code conversion module, and also provides a uniform applications programming interface and network services for use by external applications.

Clinical workstations: identifying clinical requirements and understanding clinical information.

A preliminary exploration of the problem of defining and meeting users' needs, this paper draws the bulk of its content from experiences in the PEN&PAD project in the UK. This program has been researching and developing prototype clinical workstations for direct use in patient care by health care professionals, chiefly doctors. Focusing more on general issues rather than the specific functional requirements embodied in the PEN&PAD prototypes, the paper begins with a brief summary of the goals of PEN&PAD and then outlines the three main axes of the work: user-centred design, medical concept and medical record models, and user interfaces and architectures. The remainder of the paper then concentrates on the first of these topics--working with users to define functional requirements.

From terminology to terminology services.

Terminologies have traditionally been considered as static datasets held in books or databases. The GALEN Terminology Server presents a prototype for a new view of terminologies delivered as a set of functions and services provided to other applications. This facilitates their development and integration as part of a strategy for sharing and re-using information and knowledge. The essential features of the Terminology server are the functions which it can perform; questions which it can answer and statements which it can be told. The GALEN Terminology Server supports these operations through a modular architecture and uniform applications programming interface which allows client applications to ignore the internal structure and simply use the Server for terminological, coding, and linguistic functions.

A framework for modelling the electronic medical record.

This paper presents a model for an electronic medical record which satisfies the requirements for a faithful and structured record of patient care set out in a previous paper in this series. The model underlies the PEN & PAD clinical workstation, and it provides for a permanent, completely attributable record of patient care and the process of medical decision making. The model separates the record into two levels: direct observations of the patient and meta-statements about the use of observations in decision making and the clinical dialogue. The model is presented in terms of "descriptions" formulated in the Structured Meta Knowledge (SMK) formalism, but many of its features are more general than the specific implementation. The use of electronic medical records based on the model for decision support and the analysis of aggregated data are discussed along with potential use of the model in distributed information systems.

Goals for concept representation in the GALEN project.

The GALEN project aims to develop language independent concept representation systems as the foundations for the next generation of multilingual coding systems. Traditional coding schemes have reached the limits of what can be maintained and managed, and a shift to formal compositional systems is now essential. GALEN is developing one such scheme and an associated concept model, together with criteria for their evaluation. It should provide the flexibility required to cope with the diversity amongst medical applications, whilst ensuring the coherence necessary for integration and re-use of terminologies.

Foundations for an electronic medical record.

Given the many efforts currently under way to develop standards for electronic medical records, it is important to step back and reexamine the fundamental principles which should underlie a model of the electronic medical record. This paper presents an analysis based on the experience in developing the PEN & PAD prototype clinical workstation. The fundamental contention is that the requirements for a medical record must be grounded in its use for patient care. The basic requirement is that it be a faithful record of what clinicians have heard, seen, thought, and done. The other requirements for a medical record, e.g., that it be attributable and permanent, follow naturally from this view. We use the criteria developed to re-examine Weed's Problem Oriented Medical Record and also relate the criteria to secondary uses of the medical record for population data, communications and decision support.

A patient care workstation based on user centred design and a formal theory of medical terminology: PEN&PAD and the SMK formalism.

The PEN & PAD clinical workstation is for use by clinicians for direct patient care. It is based on a highly structured and detailed medical record but is intended to be simple and intuitive to use, allowing clinicians to summarise and view information in many ways, and quickly enter information through structured forms. It also provides mechanisms for tailoring the system to individual users without compromising its overall integrity. This has been achieved by following a process of user centred design and by developing a novel formalism, Structured Meta Knowledge, to represent the terminological knowledge, the medical record, and pragmatic knowledge about clinical practice.

Reflex and dilatation: a clinical epidemiological evaluation.

The recent controversy surrounding the use of the reflex anal dilatation (RAD) sign in cases of suspected sexual abuse is a general illustration of the difficulties clinicians face in determining which symptoms, signs or laboratory tests to use in their daily practice. The evidence required fully to evaluate RAD is incomplete. The specificity in particular is uncertain. Sufficient evidence is, however, available to permit a quantitative examination of the test's performance under various circumstances. Our analysis suggests that, at the prevalence of anal abuse reported in one large series of children referred to paediatricians with suspected sexual abuse (13%), only if the specificity of the test is 99% or greater, may the positive predictive value of RAD be as high as 90%. At the likely prevalence of anal abuse in the general child population (less than 0.5%), however, an even higher specificity of 99.99% would be necessary to achieve a similar positive predictive value.