Mark Olive

Care Pathway Records with Ontologies: Potential uses in Medical Research and Health Care

This is one of a series of papers arising in part out of the SHARE (Supporting and structuring Healthgrid Activities and Research in Europe) project; in previous work, we have examined the use of integrated care pathways (ICPs), a fine-grained form of medical guideline including the explicit recording of any deviation, or ‘variance’, for research purposes. In particular, we explored how feeding the results of the analysis of variance into the development of a pathway might be an effective way of capturing ‘evidence from practice’. Building on this concept, in our principal case study we propose an information system for extracting data from ICPs using ontologies and a method for inferring ICPs from other patient records, combining these with data collected for retrospective and prospective studies in preimplantation genetic diagnosis (PGD) and screening (PGS) for assisted reproduction. We also look at the problem of selecting alternatives when drug interactions occur when multiple pathways are used in parallel.

Care pathway records and variance data: Enabling research through the use of ontologies

Integrated care pathways (ICPs), a fine-grained form of medical guideline including the explicit recording of any deviation, or ‘variance’, could serve as a rich source of data for research. Not only do they incorporate a wealth of operational knowledge, but feeding the results of the analysis of variance into the development of a pathway could be an effective way of capturing evidence from practice. In our principal case study we propose a system for extracting data from care pathways with the aid of ontologies, and a method for inferring ICPs from other patient records, combining these with data collected for retrospective and prospective studies in preimplantation genetic diagnosis (PGD) for assisted reproduction.

A retrospective study of paediatric health and development following pre-implantation genetic diagnosis and screening

Pre-implantation genetic diagnosis and screening (PGD and PGS) are treatments for patients that have (or are carriers of) an inherited genetic disorder, or who have had a history of miscarriage, problems with embryo implantation, etc. Often conducted alongside assisted reproductive technologies (ART), a number of embryos are produced, and the DNA and chromosomes of each are tested for various disorders by removing one or two cells for analysis. A retrospective cross-sectional study looking at the health and development of children born following PGD and PGS is now underway, aided by an online system developed by the EuroPGDcode project. Data has been collected from a number of ART/PGD centres worldwide, and has been entered into this system. A number of complex queries have been constructed to interrogate the data; although retrospective and not case controlled, indications are that the birth abnormality rate is low at 1.42%. However the special care requirements of PGD infants was 22.9% and the incidence of health problems after birth was 22.3%. In addition to statistical analysis of the data, a number of cases of particular interest have been identified. The online system provides the facility for the full details of these cases to be exported in a specially designed XML format for further analysis.