Objectives: Genetic disorders are the main causes of many other diseases. Integrating genetic data into Electronic Health Records (EHRs) can facilitate the management of genetic information and care of patients in clinical practices. The aim of this study was to identify the main requirements for integrating genetic data into the EHR system from the medical geneticists' perspectives.
Methods: The research was completed in 2018 and consisted of two phases. In the first phase, the main requirements for integrating genetic data into the EHR system were identified by reviewing the literature. In the second phase, a 5-point Likert scale questionnaire was developed based on the literature review and the results derived from the first phase. Then, the Delphi method was applied to reach a consensus about the integration requirements.
Results: The findings of the first phase showed that data elements, including patients' and healthcare providers' personal data, clinical and genetic data, technical infrastructure, security issues and functional requirements, should be taken into account before data integration. In the second phase, a consensus was reached for most of the items (mean ≥3.75). The items with a mean value of less than 2.5 did not achieve a consensus and were removed from the final list.
Conclusions: The integration of genetic data into the EHRs can provide a ground for increasing accuracy and precision in the diagnosis and treatment of genetic disorders. Such integration requires adequate investments to identify users' requirements as well as technical and non-technical issues.
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http://dx.doi.org/10.4258/hir.2019.25.4.289 | DOI Listing |
Cell Commun Signal
January 2025
Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
One hallmark of cancer is the upregulation and dependency on glucose metabolism to fuel macromolecule biosynthesis and rapid proliferation. Despite significant pre-clinical effort to exploit this pathway, additional mechanistic insights are necessary to prioritize the diversity of metabolic adaptations upon acute loss of glucose metabolism. Here, we investigated a potent small molecule inhibitor to Class I glucose transporters, KL-11743, using glycolytic leukemia cell lines and patient-based model systems.
View Article and Find Full Text PDFBMC Plant Biol
January 2025
School of Engineering, Dali University, Dali, Yunnan Province, China.
The homeotic transformation of stamens into pistil-like structures (pistillody) causes cytoplasmic male sterility (CMS). This phenomenon is widely present in plants, and might be induced by intracellular communication (mitochondrial retrograde signaling), but its systemic regulating mechanism is still unclear. In this study, morphological observation showed that the stamens transformed into pistil-like structures, leading to flat and dehiscent pistils, and fruit set decrease in sua-CMS (MS K326, somatic fusion between Nicotiana.
View Article and Find Full Text PDFJ Ovarian Res
January 2025
Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, #128 Shenyang Road, Shanghai, 200090, People's Republic of China.
Background: Ovarian cancers (OC) and cervical cancers (CC) have poor survival rates. Tumor-infiltrating lymphocytes (TILs) play a pivotal role in prognosis, but shared immune mechanisms remain elusive.
Methods: We integrated single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics (ST) to explore immune regulation in OC and CC, focusing on the PI3K/AKT pathway and FLT3 as key modulators.
BMC Pulm Med
January 2025
Department of Key Laboratory of Ningxia Stem Cell and Regenerative Medicine, Institute of Medical Sciences, Department of Pulmonary and Critical Care Medicine, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, 750004, China.
Background: In this study, we aimed to explore the association between baseline and early changes in the neutrophil-to-lymphocyte ratio (NLR) and the 30-day mortality rate in patients having anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis with interstitial lung disease (DM-ILD).
Methods: Overall, 263 patients with anti-MDA5 DM-ILD from four centers in China were analyzed. Multivariate logistic regression analysis was used to evaluate the impact of baseline NLR on the 30-day mortality rate in patients with anti-MDA5-positive DM-ILD.
Clin Epigenetics
January 2025
Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Alcohol consumption is an important risk factor for multiple diseases. It is typically assessed via self-report, which is open to measurement error through recall bias. Instead, molecular data such as blood-based DNA methylation (DNAm) could be used to derive a more objective measure of alcohol consumption by incorporating information from cytosine-phosphate-guanine (CpG) sites known to be linked to the trait.
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