Dataset Information

Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series.

ABSTRACT: Although mosaic autosomal chromosomal abnormalities are being increasingly detected as part of high-density genotyping studies, the clinical correlates are unclear. From an electronic medical record (EMR)-based genome-wide association study (GWAS) of peripheral arterial disease, log-R-ratio and B-allele-frequency data were used to identify mosaic autosomal chromosomal abnormalities including copy number variation and loss of heterozygosity. The EMRs of patients with chromosomal abnormalities and those without chromosomal abnormalities were reviewed to compare clinical characteristics. Among 3336 study participants, 0.75% (n = 25, mean age = 74.8 ± 10.7 years, 64% men) had abnormal intensity plots indicative of autosomal chromosomal abnormalities. A hematologic malignancy was present in 8 patients (32%), of whom 4 also had a solid organ malignancy while 2 patients had a solid organ malignancy only. In 50 age- and sex-matched participants without chromosomal abnormalities, there was a lower rate of hematologic malignancies (2% vs 32%, P < .001) but not solid organ malignancies (20% vs 24%, P = .69). We also report the clinical characteristics of each patient with the observed chromosomal abnormalities. Interestingly, among 5 patients with 20q deletions, 4 had a myeloproliferative disorder while all 3 men in this group had prostate cancer. In summary, in a GWAS of 3336 adults, 0.75% had autosomal chromosomal abnormalities and nearly a third of them had hematologic malignancies. A potential novel association between 20q deletions, myeloproliferative disorders, and prostate cancer was also noted.

SUBMITTER: Jouni H

PROVIDER: S-EPMC4130164 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature

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Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series.

Jouni Hayan H Shameer Khader K Asmann Yan W YW Hazin Ribhi R de Andrade Mariza M Kullo Iftikhar J IJ

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 20131001 4

Although mosaic autosomal chromosomal abnormalities are being increasingly detected as part of high-density genotyping studies, the clinical correlates are unclear. From an electronic medical record (EMR)-based genome-wide association study (GWAS) of peripheral arterial disease, log-R-ratio and B-allele-frequency data were used to identify mosaic autosomal chromosomal abnormalities including copy number variation and loss of heterozygosity. The EMRs of patients with chromosomal abnormalities and ...[more]

PMID: 25125939

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Project description:ImportanceWhile dosing reminders for glaucoma medications have been shown to increase drug adherence, an outstanding limitation preventing broad adoption is difficulty linking reminders to medication in each patient's electronic health record (EHR).ObjectiveTo examine the feasibility of implementing an EHR-linked, automated reminder system for glaucoma medications and assess patient satisfaction with it.Design, setting, and participantsIn this prospective, cross-sectional study, patients receiving glaucoma medications were recruited from a university-based glaucoma clinic from April 2017 to January 2018. Analysis began in February 2018.ExposuresA web-based application was added to the EHR patient portal, allowing patients to configure telecommunication-based reminders for their glaucoma medications. For all potential participants, basic information was collected to determine risk of nonadherence with glaucoma medications. Those consenting to participate then answered questions on medication adherence, reminders, and their likelihood of using EHR-linked reminders. They then configured reminders using the EHR patient portal. After 3 months, they answered questions about their satisfaction with the system.Main outcomes and measuresProportions of patients and high-risk patients willing to use the reminders, and patient satisfaction with the system.ResultsOf 147 patients approached, 100 (68%) agreed to participate, of whom the majority were men (54 [54%]) and white (51 [51%]), with a mean (SD) age of 65 (12.4) years. There were no differences between those willing and unwilling to participate, except for a slightly lower self-reported medication adherence rate among those who participated (mean [SD], 91% [13.6%] vs 97% [6.0%]). Based on a previously validated risk assessment score, 9% (9 of 100) of participants were categorized as being at high risk for poor adherence (≥50% probability of nonadherence) compared with 11% (5 of 47) of nonparticipants. Of 100 participants, 94 ultimately configured reminders, of whom 89 (95%) completed follow-up. On follow-up, 74% (n = 66; 95% CI, 65-83) of participants found the reminders to be useful, 15% (n = 13) were neutral, and 11% (n = 10) found them not useful. Most participants (72 [81%]; 95% CI, 77-85) had help configuring reminders.Conclusions and relevanceElectronic health records-linked reminders had good uptake and were well received among patients at a tertiary glaucoma clinic. These portals may represent a new and convenient method of allowing patients to link their glaucoma medications to automated reminders, although the generalizability of these results and the effect on glaucoma outcomes remains unknown.

Project description:BackgroundReports on the impact of electronic medical record (EMR) systems on clinicians are mixed. Currently, nurses' experiences of adopting a large-scale, multisite EMR system have not been investigated. Nurses are the largest health care workforce; therefore, the impact of EMR implementation must be investigated and understood to ensure that patient care quality, changes to nurses' work, and nurses themselves are not negatively impacted.ObjectiveThis study aims to explore Australian nurses' postimplementation experiences of an organization-wide EMR system.MethodsThis qualitative descriptive study used focus group and individual interviews and an open-ended survey question to collect data between 12 and 18 months after the implementation of an EMR across 6 hospital sites of a large health care organization in Victoria, Australia. Data were collected between November 2020 and June 2021, coinciding with the COVID-19 pandemic. Analysis comprised complementary inductive and deductive approaches. Specifically, reflexive thematic analysis was followed by framework analysis by the coding of data as barriers or facilitators to nurses' use of the EMR using the Theoretical Domains Framework.ResultsA total of 158 nurses participated in this study. The EMR implementation dramatically changed nurses' work and how they viewed their profession, and nurses were still adapting to the EMR implementation 18 months after implementation. Reflexive thematic analysis led to the development of 2 themes: An unintentional divide captured nurses' feelings of division related to how using the EMR affected nurses, patient care, and the broader nursing profession. This time, it's personal detailed nurses' beliefs about the EMR implementation leading to bigger changes to nurses as individuals and nursing as a profession than other changes that nurses have experienced within the health care organization. The most frequent barriers to EMR use by nurses were related to the Theoretical Domains Framework domain of environmental context and resources. Facilitators of EMR use were most often related to memory, attention, and decision processes. Most barriers and facilitators were related to motivation.ConclusionsNurses perceived EMR implementation to have a mixed impact on the provision of quality patient care and on their colleagues. Implementing technology in a health care setting was perceived as a complex endeavor that impacted nurses' perceptions of their autonomy, ways of working, and professional roles. Potential negative consequences were related to nursing workforce retention and patient care delivery. Motivation was the main behavioral driver for nurses' adoption of EMR systems and hence a key consideration for implementing interventions or organizational changes directed at nurses.

Dataset Information

Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series.

Publications

Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series.

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