Biomedical informatics and translational medicine

Biomedical informatics involves a core set of methodologies that can provide a foundation for crossing the "translational barriers" associated with translational medicine. To this end, the fundamental aspects of biomedical informatics (e.g., bioinformatics, imaging informatics, clinical informatics, and public health informatics) may be essential in helping improve the ability to bring basic research findings to the bedside, evaluate the efficacy of interventions across communities, and enable the assessment of the eventual impact of translational medicine innovations on health policies. Here, a brief description is provided for a selection of key biomedical informatics topics (Decision Support, Natural Language Processing, Standards, Information Retrieval, and Electronic Health Records) and their relevance to translational medicine. Based on contributions and advancements in each of these topic areas, the article proposes that biomedical informatics practitioners ("biomedical informaticians") can be essential members of translational medicine teams

Association of chromosome 9p21 SNPs with cardiovascular phenotypes in morbid obesity using electronic health record data

Genomic medicine research requires substantial time and resources to obtain phenotype data. The electronic health record offers potential efficiencies in addressing these temporal and economic challenges, but few studies have explored the feasibility of using such data for genetics research. The main objective of this study was to determine the association of two genetic variants located on chromosome 9p21 conferring susceptibility to coronary heart disease and type 2 diabetes with a variety of clinical phenotypes derived from the electronic health record in a population of morbidly obese patients. Data on more than 100 clinical measures including diagnoses, laboratory values, and medications were extracted from the electronic health records of a total of 709 morbidly obese (body mass index (BMI) ≥ 40 kg/m2) patients. Two common single nucleotide polymorphisms located at chromosome 9p21 recently linked to coronary heart disease and type 2 diabetes (McPherson et al. Science 316:1488–1491, 2007; Saxena et al. Science 316:1331–1336, 2007; Scott et al. Science 316:1341-1345, 2007) were genotyped to assess statistical association with clinical phenotypes. Neither the type 2 diabetes variant nor the coronary heart disease variant was related to any expected clinical phenotype, although high-risk type 2 diabetes/coronary heart disease compound genotypes were associated with several coronary heart disease phenotypes. Electronic health records may be efficient sources of data for validation studies of genetic associations

Protocol for a randomised blocked design study using telephone and text-messaging to support cardiac patients with diabetes: a cross cultural international collaborative project

Background: The prevalence of type 2 diabetes is rising internationally. Patients with diabetes have a higher risk of cardiovascular events accounting for substantial premature morbidity and mortality, and health care expenditure. Given healthcare workforce limitations, there is a need to improve interventions that promote positive self-management behaviours that enable patients to manage their chronic conditions effectively, across different cultural contexts. Previous studies have evaluated the feasibility of including telephone and Short Message Service (SMS) follow up in chronic disease self-management programs, but only for single diseases or in one specific population. Therefore, the aim of this study is to evaluate the feasibility and short-term efficacy of incorporating telephone and text messaging to support the care of patients with diabetes and cardiac disease, in Australia and in Taiwan. Methods/design. A randomised controlled trial design will be used to evaluate a self-management program for people with diabetes and cardiac disease that incorporates the use of simple remote-access communication technologies. A sample size of 180 participants from Australia and Taiwan will be recruited and randomised in a one-to-one ratio to receive either the intervention in addition to usual care (intervention) or usual care alone (control). The intervention will consist of in-hospital education as well as follow up utilising personal telephone calls and SMS reminders. Primary short term outcomes of interest include self-care behaviours and self-efficacy assessed at baseline and four weeks. Discussion. If the results of this investigation substantiate the feasibility and efficacy of the telephone and SMS intervention for promoting self management among patients with diabetes and cardiac disease in Australia and Taiwan, it will support the external validity of the intervention. It is anticipated that empirical data from this investigation will provide valuable information to inform future international collaborations, while providing a platform for further enhancements of the program, which has potential to benefit patients internationally. Trial registration. ACTRN 12611001196932