Routine integration of genotype data into drug decision-making could improve patient safety, particularly if many relevant genetic variants can be assayed simultaneously before target drug prescribing. The frequency of pharmacogenetic prescribing opportunities and the potential adverse events (AE) mitigated are unknown. We examined the frequency with which 56 medications with known outcomes influenced by variant alleles were prescribed in a cohort of 52,942 medical home patients at Vanderbilt University Medical Center. Within a five-year window, we estimated that 64.8% (95% CI: 64.4%-65.2%) of individuals were exposed to at least one medication with an established pharmacogenetic association. Using previously published results for six medications with well-characterized, severe genetically-linked AEs, we estimated that 398 events (95% CI, 225 - 583) could have been prevented with an effective preemptive genotyping program. Our results suggest that multiplexed, preemptive genotyping may represent an efficient alternative approach to current single use (“reactive”) methods and may improve safety.
Purpose
The design of electronic health records (EHR) to translate genomic medicine into clinical care is crucial to successful introduction of new genomic services, yet there are few published guides to implementation.
Methods
The design, implemented features, and evolution of a locally developed EHR that supports a large pharmacogenomics program at a tertiary care academic medical center was tracked over a 4-year development period.
Results
Developers and program staff created EHR mechanisms for ordering a pharmacogenomics panel in advance of clinical need (preemptive genotyping) and in response to a specific drug indication. Genetic data from panel-based genotyping were sequestered from the EHR until drug-gene interactions (DGIs) met evidentiary standards and deemed clinically actionable. A service to translate genotype to predicted drug response phenotype populated a summary of DGIs, triggered inpatient and outpatient clinical decision support, updated laboratory records, and created gene results within online personal health records.
Conclusion
The design of a locally developed EHR supporting pharmacogenomics has generalizable utility. The challenge of representing genomic data in a comprehensible and clinically actionable format is discussed along with reflection on the scalability of the model to larger sets of genomic data.
Objective. To establish the prevalence of elder abuse in community‐dwelling patients with dementia and to test the hypothesis that there is no difference in carer and patient characteristics between the abused and non‐abused populations.
Design. A cohort of consecutive referrals was formed and subdivided by the presence or absence of abuse and the two groups compared.
Setting. A rural psychiatry of old age service in N. Ireland.
Subjects. Each case had been newly referred, was 65 years old or over, lived at home, had an identifiable carer and met DSMIII‐R criteria for a diagnosis of dementia. There were 49 such cases; 38 carers agreed to be interviewed.
Main outcome measures. The General Health Questionnaire 28, the Gilleard Pre‐Morbid Relationship Rating Scale and Gilleard's Problem Checklist were administered to the carer and the information/orientation sub scale of the Clifton Assessment Procedure for the Elderly used to measure cognitive impairment in the patient.
Results. Abuse was elicited in 14 (37%) cases; four (10.5%) of physical and 13 (34%) of verbal abuse. No cases of abuse by neglect were detected. A poor premorbid relationship, verbal or physical abuse by the dependant, problem behaviours in the dependant, the carer's level of anxiety and a perception of not receiving help were significantly associated with abuse. Alcohol consumption of the carer, physical dependence, severity of cognitive impairment or financial or social circumstances were not associated with elder abuse.
Conclusions. Elder abuse is associated with aspects of the patient/carer relationship and should be regarded as a significant problem in patients with dementia referred to an old age service.
Our findings support using SNOMED CT to provide standardized representations of information created using these two terminologies, but suggest that enriching SNOMED CT semantics would improve representation of the external terms.
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