Informatics Support Research Articles

Swarm Intelligence Based Public Health Informatics and Decision Support Systems

Swarm Intelligence Based Public Health Informatics and Decision Support Systems

Semantics-Enabled Data Federation: Bringing Materials Scientists Closer to FAIR Data

The development and discovery of new materials can be significantly enhanced through the adoption of FAIR (Findable, Accessible, Interoperable, and Reusable) data principles and the establishment of a robust data infrastructure in support of materials informatics. A FAIR data infrastructure and associated best practices empower materials scientists to access and make the most of a wealth of information on materials properties, structures, and behaviors, allowing them to collaborate effectively, and enable data-driven approaches to material discovery. To make data findable, accessible, interoperable, and reusable to materials scientists, we developed and are in the process of expanding a materials data infrastructure to capture, store, and link data to enable a variety of analytics and visualizations. Our infrastructure follows three key architectural design philosophies: (i) capture data across a federated storage layer to minimize the storage footprint and maximize the query performance for each data type, (ii) use a knowledge graph-based data fusion layer to provide a single logical interface above the federated data repositories, and (iii) provide an ensemble of FAIR data access and reuse services atop the knowledge graph to make it easy for materials scientists and other domain experts to explore, use, and derive value from the data. This paper details our architectural approach, open-source technologies used to build the capabilities and services, and describes two applications through which we have successfully demonstrated its use. In the first use case, we created a system to enable additive manufacturing data storage and process parameter optimization with a range of user-friendly visualizations. In the second use case, we created a system for exploring data from cathodic arc deposition experiments to develop a new steam turbine coating material, fusing a combination of materials data with physics-based equations to enable advanced reasoning over the combined knowledge using a natural language chatbot-like user interface.

"The Only Reason I Am Willing to Do It at All": Evaluation of VA's SUpporting Primary care Providers in Opioid Risk reduction and Treatment (SUPPORT) Center.

Medication treatment for opioid use disorder (MOUD) is effective and recommended for outpatient settings. We implemented and evaluated the SUpporting Primary care Providers in Opioid Risk reduction and Treatment (SUPPORT) Center-a quality improvement partnership to implement stepped care for MOUD in 2 Veterans Health Administration (VA) primary care (PC) clinics. SUPPORT provided a dedicated clinical team (nurse practitioner prescriber and social worker) and stepped care ([1] identification, assessment, referral; [2] MOUD induction; [3] stabilization; and [4] maintenance supporting PC providers [PCPs] to initiate and/or sustain treatment) coupled with ongoing internal facilitation (consultation, trainings, informatics support). Qualitative interviews with stakeholders (PCPs and patients) and meeting notes identified barriers and facilitators to implementation. Electronic health record and patient tracking data measured reach, adoption, and implementation outcomes descriptively. SUPPORT's implementation barriers included the need for an X-waiver, VA's opioid tapering policies, patient and PCP knowledge gaps and PCP discomfort, and logistical compatibility and sustainability challenges for clinics. SUPPORT's dedicated clinical staff, ongoing internal facilitation, and high patient and PCP satisfaction were key facilitators. SUPPORT (January 2019 to September 2021) trained 218 providers; 63 received X-waivers, and 23 provided MOUD (10.5% of those trained). SUPPORT provided care to 167 patients, initiated MOUD for 33, and provided education and naloxone to 72 (all = 0 in year before launch). SUPPORT reached many PCPs and patients and resulted in small increases in MOUD prescribing and high levels of stakeholder satisfaction. Dedicated clinical staff was key to observed successes. Although resource-intensive, SUPPORT offers a potential model for outpatient MOUD provision.

Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis

BackgroundWhile substantial placebos have been used in herbal medicine (HM) clinical trials for rare diseases, the use and quality of reporting of HM-placebo remain unclear. We aim to describe the use of HM-placebo in clinical trials for rare diseases and determine the quality of reporting in these trials.MethodsThis is a cross-sectional study. We searched PubMed, Embase, Web of Science, SinoMed, China National Knowledge Infrastructure, WanFang database, China Science and Technology Journal Database, National Institute of Informatics Support Academic Information Services, ClinicalTrials.gov and Chinese Clinical Trials Registry from their inception date to 14 February 2023 to identify registered and published trials that use placebos as a comparator in rare diseases. We collected data on placebo use reporting and the efficacy and safety of placebo. Descriptive statistics, the Chi-square test, and Binary multivariable logistic regression analysis were used to determine the placebo characteristics of the HM trial and its effect on reporting.ResultsAmong the 55 studies, we included that with a median administration time of placebo of 84 days (IQR 42–180) and a median placebo sample size of 30 (IQR 24–54). About half of the trials (27, 49.1%) did not provide their ethical approvals, and one trial had details of informed consent. None of the studies were fully reported and more than half of the items reported less than 50%. A total of 10 trials (18.2%) of placebo has active ingredients even though none of them performed pharmacological inert tests. Of the 29 studies with available data on adverse events, 5 (17.2%) trials did not show a better safety profile in the placebo group. Under the context that a relatively high-quality report is defined as a report with more than 9 items, there was a statistically significant difference between the two groups in the rate of relatively high-quality reports of the administration time (p = 0.047, OR 0.10, 95% CI 0.01 to 0.90), but the results are not representative.ConclusionThe overall situation of HM-placebo in the field of rare diseases was poor. In particular, the placebo is tied to the quality of trials, and poor placebo hinders the generation of high-quality evidence for herbal clinical trials in the field of rare diseases. We summarize the current methods of assessment involved in the use of placebos and propose various considerations for placebos in different contexts. Our study can greatly promote rare disease researchers to review the quality of their placebo and clinical trials. It is imperative to guarantee that meticulously conducted research generates clinical evidence of the highest caliber. We also expect that in the future, more rigorous relevant standards about the reporting and design of HM-placebo will be developed. High-quality clinical trials are the prerequisite for the wide clinical application of herbal medicines for rare diseases.

E052 Implementation of a disease modifying anti-rheumatic drug blood monitoring software: 8 years of experience in a single centre

Abstract Background/Aims Who is responsible for the blood monitoring of disease modifying anti-rheumatic drugs (DMARDs)? It may be Primary Care, Specialist Rheumatology teams or a combination. In Greater Manchester, it was deemed good practice to initiate ‘amber’ conventional synthetic DMARDs (cs-DMARDs) by Rheumatology and then transfer to Primary Care under shared care after 3 months or when blood monitoring was stable. ‘Red’ drug prescribing and monitoring for targeted synthetic DMARDs (ts-DMARDs) and biologics (b-DMARDs) would remain under Specialist care long-term. In 2013, the process began for the Rheumatology team at Bolton to take on the ‘in house’ initiation of cs-DMARDs and the implementation of formal shared care. It would not be possible to manage this with paper slips of pathology results and shared care booklets, as the workload and safety implications would be un-manageable for our small team. The Rheumatology department purchased blood monitoring software, allowing only abnormal results or concerning trends to filter through. The implementation of this new way of working required collaborative working with the Informatics, Laboratory, Software and Rheumatology teams, as well as Primary care. At the time, the likely numbers of patients monitored and the workload of abnormal results/trends was unknown. Here we share our experience of software-based rheumatology DMARD monitoring in a district general hospital setting, serving a population of nearly 300 000. Methods Roles and responsibilities were allocated across the multidisciplinary, administration/clerical and informatics teams. A workflow and weekly timetable of activity and cross cover for leave was implemented. Two ‘super-users’ (AP/LB) undertook the initial testing of the software with informatics support (DE) and still work closely to address any data flow issues, software updates and testing related to emerging DMARDs. The patient cohort included those starting ‘amber’ DMARDs (to the point of shared care), stabilization following a dose increase and those remaining on specialist only ‘red’ DMARDs. Since 2019, a monthly monitoring report has allowed a more detailed documentation of workload. Results There were 518 patient licenses in use December 2019, 589 in 2020 and 635 in 2021. In the pre-pandemic year of 2019, 203 patients were newly registered or re-registered. Abnormal results and concerning trends were ‘flagged’ by the software for 719 patients. 263 shared care agreements were generated for monitored DMARDs. Conclusion This workload data relates to the use of software-based DMARD monitoring in a Rheumatology department, where patient flows relate to 1 whole time equivalent Rheumatology Consultant per 100 000 population. Centres considering taking on a similar form of DMARD monitoring can extrapolate this data for their population and patient flow to guide regarding staffing needs. Disclosure A. Paul: None. L. Bromilow: None. D. Eckersley: None.

Decentralized research technology use in multicenter clinical research studies based at U.S. academic research centers.

During the COVID-19 pandemic, research organizations accelerated adoption of technologies that enable remote participation. Now, there's a pressing need to evaluate current decentralization practices and develop appropriate research, education, and operations infrastructure. The purpose of this study was to examine current adoption of decentralization technologies in a sample of clinical research studies conducted by academic research organizations (AROs). The setting was three data coordinating centers in the U.S. These centers initiated coordination of 44 clinical research studies during or after 2020, with national recruitment and enrollment, and entailing coordination between one and one hundred sites. We determined the decentralization technologies used in these studies. We obtained data for 44/44 (100%) trials coordinated by the three centers. Three technologies have been adopted across nearly all studies (98-100%): eIRB, eSource, and Clinical Trial Management Systems. Commonly used technologies included e-Signature (32/44, 73%), Online Payments Portals (26/44, 59%), ePROs (23/44, 53%), Interactive Response Technology (22/44, 50%), Telemedicine (19/44, 43%), and eConsent (18/44, 41%). Wearables (7/44,16%) and Online Recruitment Portals (5/44,11%) were less common. Rarely utilized technologies included Direct-to-Patient Portals (1/44, 2%) and Home Health Nurse Portals (1/44, 2%). All studies incorporated some type of decentralization technology, with more extensive adoption than found in previous research. However, adoption may be strongly influenced by institution-specific IT and informatics infrastructure and support. There are inherent needs, responsibilities, and challenges when incorporating decentralization technology into a research study, and AROs must ensure that infrastructure and informatics staff are adequate.

Ensuring the rights of citizens to judicial protection and fair trial with the help of the state automated system "Justice"

In the article, the authors consider the issue of the introduction of electronic justice services in the Russian Federation and the development of recommendations for improving the mechanisms for the implementation of the rights of Russian citizens to judicial protection with the help of the SAS "Justice".The object of this study is the procedural legal relations arising during the use of the SAS "Justice" in the conduct of legal proceedings in the Russian Federation. The subject of the study are the norms of substantive and procedural law regulating the activities of courts and judicial bodies, ensuring the realization of citizens' rights to judicial protection through the use of the SAS "Justice" and law enforcement practice for organizing access to legal proceedings using automated information systems. The novelty of the study was that the authors critically analyzed the norms of substantive and procedural law of the Russian Federation regulating the functioning of the SAS "Justice". As a result of the study the authors formulated the recommendations for improving Russian legislation. The authors came to the conclusion that the SAS "Justice" allows the implementation of certain procedural rights of the parties and other participants in the trial. At the same time, the main purpose of creating this system is to provide informatization, electronic and digital support of administrative and basic processes of the judicial system. The realization of citizens' rights to access justice in electronic and digital form through the SAS "Justice" is largely a secondary service that is developing as a by-product of the overall digital transformation of the judicial system. To ensure the rights of citizens to access to electronic and digital justice, it is necessary to improve the norms of substantive and procedural law.

Impact of Air Pollution in Airway Diseases: Role of the Epithelial Cells (Cell Models and Biomarkers).

Biomedical research is multidisciplinary and often uses integrated approaches performing different experimental models with complementary functions. This approach is important to understand the pathogenetic mechanisms concerning the effects of environmental pollution on human health. The biological activity of the substances is investigated at least to three levels using molecular, cellular, and human tissue models. Each of these is able to give specific answers to experimental problems. A scientific approach, using biological methods (wet lab), cell cultures (cell lines or primary), isolated organs (three-dimensional cell cultures of primary epithelial cells), and animal organisms, including the human body, aimed to understand the effects of air pollution on the onset of diseases of the respiratory system. Biological methods are divided into three complementary models: in vitro, ex vivo, and in vivo. In vitro experiments do not require the use of whole organisms (in vivo study), while ex vivo experiments use isolated organs or parts of organs. The concept of complementarity and the informatic support are useful tools to organize, analyze, and interpret experimental data, with the aim of discussing scientific notions with objectivity and rationality in biology and medicine. In this scenario, the integrated and complementary use of different experimental models is important to obtain useful and global information that allows us to identify the effect of inhaled pollutants on the incidence of respiratory diseases in the exposed population. In this review, we focused our attention on the impact of air pollution in airway diseases with a rapid and descriptive analysis on the role of epithelium and on the experimental cell models useful to study the effect of toxicants on epithelial cells.

OP045: Status of training in genomics for clinical informatics and informatics for genomic medicine

Rapid advancements in genomic medicine and increasing amounts of complex genomic data have found clinicians unprepared to interpret this information at the point of care without informatics support. To determine the status of training in these fields, we assessed the level of genomic content in clinical informatics fellowships and informatics content in medical genetics residencies.

Legal regulation of the use of information and communication technologies in the activities of public authorities

The article examines the issues of legal regulation of the use of information and communication technologies in the activities of public authorities. The relevance of the topic is due to the universal digitalization of public relations, including the activities of public authorities. The widespread informatization of various spheres of society, their economic activities, the development and introduction of modern data transmission devices, the expansion of computer networks led to a sharp increase in the volume of processed information, and modern society began to be called informational. The process of informatization of society is gradually taking place. Various information and communication technologies are also actively used in the field of public administration in Russia. The processes of informatization and information support are increasingly active in the digital economy of Russia. Technologies and their application are turning from a specialized professional field into a key issue in the sphere of public administration. In the general understanding, information and communication technologies are a process that includes a set of tools and methods for the implementation of operations for the collection, registration, accumulation, processing and transmission of information based on hardware and for the purpose of solving management tasks. The author formulates the conclusion that information and communication technologies are increasingly being used in the activities of public authorities. Informatization of the activities of public authorities in the Russian Federation is an indispensable and important stage in the formation of the information society, as well as the leading direction of reforming the entire system of public administration.

Research on the Grid Management of College Student Dormitories from the Perspective of Social Governance

Exploring the application of management theory to the management services of college students’ dormitories is conducive to the construction of an ideological and political work system of grid management, informatization support, and full service centered on student dormitories. The university dormitory management system is of great significance.

Medical Insurance Information Systems in China: Mixed Methods Study.

BackgroundSince the People’s Republic of China (PRC), or China, established the basic medical insurance system (MIS) in 1998, the medical insurance information systems (MIISs) in China have effectively supported the operation of the MIS through several phases of development; the phases included a stand-alone version, the internet, and big data. In 2018, China’s national medical security systems were integrated, while MIISs were facing reconstruction. We summarized China’s experience in medical insurance informatization over the past 20 years, aiming to provide a reference for the building of a new basic MIS for China and for developing countries.ObjectiveThis paper aims to sort out medical insurance informatization policies throughout the years, use questionnaires to determine the status quo of provincial MIIS-building in China and the relevant policies, provide references and suggestions for the top-level design and implementation of the information systems in the transitional period of China’s MIS reform, and provide a reference for the building of MIISs in developing countries.MethodsWe conducted policy analysis by collecting the laws, regulations, and policy documents—issued from 1998 to 2020—on China's medical insurance and its informatization; we also analyzed the US Health Insurance Portability and Accountability Act and other relevant policies. We conducted a questionnaire survey by sending out questionnaires to 31 Chinese, provincial, medical security bureaus to collect information about network links, system functions, data exchange, standards and specifications, and building modes, among other items. We conducted a literature review by searching for documents about relevant laws and policies, building methods, application results, and other documents related to MIISs; we conducted searches using PubMed, Elsevier, China National Knowledge Infrastructure, and other major literature databases. We conducted telephone interviews to verify the results of questionnaires and to understand the focus issues concerning the building of China’s national MIISs during the period of integration and transition of China's MIS.ResultsIn 74% (23/31) of the regions in China, MIISs were networked through dedicated fiber optic lines. In 65% (20/31) of the regions in China, MIISs supported identity recognition based on both ID cards and social security cards. In 55% (17/31) of the regions in China, MIISs at provincial and municipal levels were networked and have gathered basic medical insurance data, whereas MIISs were connected to health insurance companies in 35% (11/31) of the regions in China. China’s MIISs are comprised of 11 basic functional modules, among which the modules of business operation, transregional referral, reimbursement, and monitoring systems are widely applied. MIISs in 83% (20/24) of Chinese provinces have stored data on coverage, payment, and settlement compensation of medical insurance. However, in terms of data security and privacy protection, pertinent policies are absent and data utilization is not in-depth enough. Respondents to telephone interviews universally reflected on the following issues and suggestions: in the period of integration and transition of MISs, close attention should be paid to the top-level design, and repeated investment should be avoided for the building of MIISs; MIISs should be adapted to the health care reform, and efforts should be made to strengthen the informatization support for the reform of payment methods; and MIISs should be adapted for the widespread application of mobile phones and should provide insured persons with more self-service functions.ConclusionsIn the future, the building of China’s basic MIISs should be deployed at the national, provincial, prefectural, and municipal levels on a unified basis. Efforts should be made to strengthen the development of standard codes, data exchange, and data utilization. Work should be done to formulate the rules and regulations for security and privacy protection and to balance the right to be informed with the mining and utilization of big data. Efforts should be made to intensify the interconnectivity between MISs and other health systems and to strengthen the application of medical insurance information in public health monitoring and early warning systems; this would ultimately improve the degree of trust from stakeholders, including individuals, medical service providers, and public health institutions, in the basic MIISs.

"We Just Never Have Enough Time": Clinician Views of Lung Cancer Screening Processes and Implementation.

Despite a known mortality benefit, lung cancer screening (LCS) implementation has been unexpectedly slow. New programs face barriers to implementation, which may include lack of clinician engagement or beliefs that the intervention is not beneficial. To evaluate diverse clinician perspectives on their views of LCS and their experience with LCS implementation and processes. We performed a qualitative study of clinicians participating in LCS. Clinicians were drawn from three medical centers, representing diverse specialties and practice settings. All participants practiced at sites with formal lung cancer screening programs. We performed semi-structured interviews with probes designed to elicit opinions of LCS, perceived evidence gaps, and recommendations for improvements. Transcribed interviews were iteratively reviewed and coded using directed content analysis. Participants (n=24) included LCS coordinators, pulmonologists, physician and non-physician primary care providers (PCPs), a surgeon, and a radiologist. Most clinicians expressed that the evidence supporting LCS was adequate to support clinical adoption, though most PCPs had little direct knowledge and based decisions on local recommendations or endorsement by the US Preventative Services Task Force (USPSTF). Many PCPs endorsed lack of knowledge of eligibility requirements and screening strategy (e.g. annual while eligible). Clinicians with more lung cancer screening knowledge, including several PCPs, identified a number of gaps in the current evidence that tempered enthusiasm, including: unclear ideal screening interval, populations with high cancer risk that do not qualify under USPSTF, indications to stop screening, and the role of serious comorbidities. Support for centralized programs and LCS coordinators was strong, but not uniform. Clinicians were frustrated by time limitations during a patient encounter, costs to the patient, and issues with insurance coverage. Many gaps in informatics support were identified. Clinicians recommended working to improve informatics support, continuing to clarify clinician responsibilities, and working on increasing public awareness of LCS. Despite working within programs that have adopted many recommended care processes to support LCS, clinicians identified a number of issues in providing high-quality LCS. Many of these issues are best addressed by improved support of LCS within the electronic health record and continued education of staff and patients.

Alliance for Nursing Informatics Support and Advocacy of Consumer Health.

Lopez, Karen Dunn PhD, MPH, RN; Tiase, Victoria L. MSN, RN-BCEditor(s): Carter-Templeton, Heather PhD, RN-BC Author Information

Data modelling for large-scale social media analytics: design challenges and lessons learned

We live in a world of big data; organisations collect, store, and analyse large volumes of data for various purposes. The five V's of big data introduce new challenges for developers to handle when performing data processing and analysis. Indeed, data modelling is one of the most challenging and critical aspects of big data because it determines how data will be structured and stored; these decisions then impact how that data can be processed and analysed. In this paper, we report on designing a data model for storing and analysing Twitter data in support of crisis informatics. In this work, we leverage the data model provided by columnar NoSQL data stores to design column families that can efficiently index, sort, store and analyse large Twitter datasets. In particular, our column families are designed to achieve efficient batch data processing. We evaluate these claims and discuss our future work.

Data modelling for large-scale social media analytics: design challenges and lessons learned

We live in a world of big data; organisations collect, store, and analyse large volumes of data for various purposes. The five V's of big data introduce new challenges for developers to handle when performing data processing and analysis. Indeed, data modelling is one of the most challenging and critical aspects of big data because it determines how data will be structured and stored; these decisions then impact how that data can be processed and analysed. In this paper, we report on designing a data model for storing and analysing Twitter data in support of crisis informatics. In this work, we leverage the data model provided by columnar NoSQL data stores to design column families that can efficiently index, sort, store and analyse large Twitter datasets. In particular, our column families are designed to achieve efficient batch data processing. We evaluate these claims and discuss our future work.

2nd International Conference on Mechanical, Electronics, Computer, and Industrial Technology

PrefaceInternational Conference on Mechanical, Electronics, Computers, and Industrial Technology (MECnIT 2018) was held in Medan, Indonesia. MECnIT 2018 was hosted by Faculty of Technology and Computer Sciences, Universitas Prima Indonesia. This conference is co-organized by TIMERS (Technology, Informatics, Management, and Engineering Research Support), Universiti Utara Malaysia, National Taiwan University of Science and Technology, Universitas Sumatera Utara, Institut Teknologi Bandung, Universitas Padjajaran, and Asosiasi Perguruan Tinggi Informatika dan Ilmu Komputer (APTIKOM).The MECnIT 2018 has attracted many academicians, scientists, engineers, postgraduates, and other professionals from many countries. These conferences aim to promote interaction among engineers, researchers, and scientists active in the related areas. The events are intended to provide a high-level international forum to present, to exchange, and to discuss recent advances, new techniques, and applications in the field of knowledge discussed in this conference.Our special thanks also goes to all individuals and organizations such as the international program committees (IPC), the conference organizers, the reviewers, and the authors, for their contribution in making MECnIT 2018 not only a successful international conference but also as a memorable gathering event. We are also grateful for the support of the publication service of IOP. We hope that it should give you a beautiful memory to bring home in addition to new insights and friends gathered during the conference. We are truly grateful for your contribution and interest. We hope that you will get pleasure from MECnIT 2018 in this beautiful city, Medan, Indonesia.List of Conference General Chair, International Program Committee (IPC) and Conferences Photographs are available in this pdf.

Coordinating an Oncology Precision Medicine Clinic Within an Integrated Health System: Lessons Learned in Year One.

Precision medicine is a term describing strategies to promote health and prevent and treat disease based on an individual's genetic, molecular, and lifestyle characteristics. Oncology precision medicine (OPM) is a cancer treatment approach targeting cancer-specific genetic and molecular alterations. Implementation of an OPM clinical program optimally involves the support and collaboration of multiple departments, including administration, medical oncology, pathology, interventional radiology, genetics, research, and informatics. In this review, we briefly introduce the published evidence regarding OPM's potential effect on patient outcomes and discuss what we have learned over the first year of operating an OPM program within an integrated health care system (Aurora Health Care, Milwaukee, WI) comprised of multiple hospitals and clinics. We also report our experience implementing a specific OPM software platform used to embed molecular panel data into patients' electronic medical records.

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown. Analysis of whole exome sequencing (WES) in left sided CVM case and trio series has identified large numbers of potential variants but evidence of causality has remained elusive except in a small percentage of cases. We sought to determine whether variant segregation in families would aid in novel gene discovery. The objective was to compare conventional and co-segregation approaches for WES in multiplex families. WES was performed on 52 individuals from 4 multiplex families ascertained by probands with hypoplastic left heart syndrome (HLHS). We identified rare variants with informatics support (RVIS, minor allele frequency ≤0.01 and Combined Annotation Dependent Depletion score ≥20) in probands. Non-RVIS variants did not meet these criteria. Family specific two point logarithm of the odds (LOD) scores identified co-segregating variants (C-SV) using a dominant model and 80% penetrance. In families, 702 RVIS in 668 genes were identified, but only 1 RVIS was also a C-SV (LOD ≥ 1). On the other hand, there were 109 non-RVIS variants with LOD ≥ 1. Among 110 C-SV, 97% were common (MAF > 1%). These results suggest that conventional variant identification methods focused on RVIS, miss most C-SV. For diseases such as left sided CVM, which exhibit strong familial transmission, co-segregation can identify novel candidates.

Factors Associated With Canadian Nurses' Informatics Competency.

As digital innovations continue to transform health systems in Canada, it is important to examine registered nurses' preparedness in informatics, and factors associated with informatics competency. An exploratory, descriptive, cross-sectional survey was used to determine self-perceived informatics competencies, and factors associated with competency, among practicing nurses in Alberta. Results from 2844 completed surveys showed that nurses' self-perceived informatics competency was slightly above the mark of competent. Perceptions of competency were highest on foundational computer literacy skills and lowest on information and knowledge management competencies. However, overall informatics competency mean scores varied significantly in relation to age, educational qualification, years of experience, and work setting. The quality of informatics training and support offered by employers contributed the most to variance in mean scores of total and subdomains of informatics competency. Other factors, such as age, educational qualification, work setting, previous informatics education, access to the Internet, use of health technology, access to supporting resources, informatics training, an informatics role, and continuing education in informatics, also contributed to mean scores variance in differing degrees. Findings from this study provide a basis for actionable policies to address informatics educational needs and support requirements among nurses practicing now and in the future.