The impact of genomics on pediatric research and medicine.
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ABSTRACT:
SUBMITTER: Connolly JJ
PROVIDER: S-EPMC3362911 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Factors predictive of research career interest among pediatric emergency medicine (PEM) fellows are not known. We sought to determine the prevalence and determinants of interest in research careers among PEM fellows.We performed an electronically distributed national survey of current PEM fellows. We assessed demographics, barriers to successful research, and beliefs about research using 4-point ordinal scales. The primary outcome was the fellow-reported predicted percentage of time devoted to clinical research 5 years after graduation. We measured the association between barriers and beliefs and the predicted future clinical research time using the Spearman correlation coefficient.Of 458 current fellows, 231 (50.4%) submitted complete responses to the survey. The median predicted future clinical research time was 10% (interquartile range, 5%-20%). We identified no association between sex, residency type, and previous research exposure and predicted future research time. The barrier that most correlated with decreased predicted clinical research time was difficulty designing a feasible fellowship research project (Spearman coefficient [?], 0.20; P = 0.002). The belief that most correlated with increased predicted clinical research time was excitement about research (? = 0.69, P < 0.001).Most fellows expect to devote a minority of their career to clinical research. Excitement about research was strongly correlated with career research interest.
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Project description:We are entering the era of personalized medicine in which an individual's genetic makeup will eventually determine how a doctor can tailor his or her therapy. Therefore, it is becoming critical to understand the genetic basis of common diseases, for example, which genes predispose and rare genetic variants contribute to diseases, and so on. Our study focuses on helping researchers, medical practitioners, and pharmacists in having a broad view of genetic variants that may be implicated in the likelihood of developing certain diseases. Our focus here is to create a comprehensive database with mobile access to all available, authentic and actionable genes, SNPs, and classified diseases and drugs collected from different clinical and genomics databases worldwide, including Ensembl, GenCode, ClinVar, GeneCards, DISEASES, HGMD, OMIM, GTR, CNVD, Novoseek, Swiss-Prot, LncRNADisease, Orphanet, GWAS Catalog, SwissVar, COSMIC, WHO, and FDA. We present a new cutting-edge gene-SNP-disease-drug mobile database with a smart phone application, integrating information about classified diseases and related genes, germline and somatic mutations, and drugs. Its database includes over 59 000 protein-coding and noncoding genes; over 67 000 germline SNPs and over a million somatic mutations reported for over 19 000 protein-coding genes located in over 1000 regions, published with over 3000 articles in over 415 journals available at the PUBMED; over 80 000 ICDs; over 123 000 NDCs; and over 100 000 classified gene-SNP-disease associations. We present an application that can provide new insights into the information about genetic basis of human complex diseases and contribute to assimilating genomic with phenotypic data for the availability of gene-based designer drugs, precise targeting of molecular fingerprints for tumor, appropriate drug therapy, predicting individual susceptibility to disease, diagnosis, and treatment of rare illnesses are all a few of the many transformations expected in the decade to come.
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Project description:Adipose tissue is an important regulator of whole-body metabolism and energy homeostasis. The unprecedented growth of obesity and metabolic disease worldwide has required paralleled advancements in research on this dynamic endocrine organ system. Single-cell RNA sequencing (scRNA-seq), a highly meticulous methodology used to dissect tissue heterogeneity through the transcriptional characterization of individual cells, is responsible for facilitating critical advancements in this area. The unique investigative capabilities achieved by the combination of nanotechnology, molecular biology, and informatics are expanding our understanding of adipose tissue's composition and compartmentalized functional specialization, which underlie physiologic and pathogenic states, including adaptive thermogenesis, adipose tissue aging, and obesity. In this review, we will summarize the use of scRNA-seq and single-nuclei RNA-seq (snRNA-seq) in adipocyte biology and their applications to obesity and diabetes research in the hopes of increasing awareness of the capabilities of this technology and acting as a catalyst for its expanded use in further investigation.
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Project description:Effective use of genetic and genomic data in cancer prevention and treatment depends on adequate communication with patients and the public. Although relevant empirical work has emerged, the scope and outcomes of this communication research have not been characterized. We conducted a comprehensive scoping review of recent published research (2010-2017) on communication of cancer-related genetic and genomic testing (CGT) information. Searches in six databases revealed 9243 unique records; 513 papers were included. Most papers utilized an observational quantitative design; fewer utilized an experimental design. More attention has been paid to outcomes of CGT results disclosure than to decision making regarding CGT uptake or the process of results disclosure. Psychosocial outcomes were most common across studies. This literature has a strong focus on BRCA1/2, with few papers focused on Lynch syndrome or next-generation technologies. Women, Caucasians, older adults, and those of higher socioeconomic status were overrepresented. Research gaps identified include the need for studies on the process of CGT communication; examining behavioral, decision making, and communication outcomes; and inclusion of diverse populations. Addressing these gaps can help improve the use of genomics in cancer control and reduce disparities in access to and use of CGT.
| S-EPMC7725534 | biostudies-literature
Project description:Genome-wide expression microarray studies have revealed that the biological and clinical heterogeneity of breast cancer can be partly explained by information embedded within a complex but ordered transcriptional architecture. Comprising this architecture are gene expression networks, or signatures, reflecting biochemical and behavioral properties of tumors that might be harnessed to improve disease subtyping, patient prognosis and prediction of therapeutic response. Emerging 'hypothesis-driven' strategies that incorporate knowledge of pathways and other biological phenomena in the signature discovery process are linking prognosis and therapy prediction with transcriptional readouts of tumorigenic mechanisms that better inform therapeutic options.
| S-EPMC1868923 | biostudies-literature
Project description:Personalized medicine is health care that tailors interventions to individual variation in risk and treatment response. Although medicine has long strived to achieve this goal, advances in genomics promise to facilitate this process. Relevant to present-day practice is the use of genomic information to classify individuals according to disease susceptibility or expected responsiveness to a pharmacologic treatment and to provide targeted interventions. A symposium at the annual meeting of the Society for Medical Decision Making on 23 October 2007 highlighted the challenges and opportunities posed in translating advances in molecular medicine into clinical practice. A panel of US experts in medical practice, regulatory policy, technology assessment, and the financing and organization of medical innovation was asked to discuss the current state of practice and research on personalized medicine as it relates to their own field. This article reports on the issues raised, discusses potential approaches to meet these challenges, and proposes directions for future work. The case of genetic testing to inform dosing with warfarin, an anticoagulant, is used to illustrate differing perspectives on evidence and decision making for personalized medicine.
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Project description:Background:Many fellows in clinically driven subspecialties may have difficulty completing and publishing their scholarly projects due to lack of prior experience in research, selection of projects that are difficult to complete during fellowship, or mentorship challenges. This may be particularly true in pediatric emergency medicine (PEM) because research time may be longitudinally integrated with clinical rotations, rather than blocked as is common in other subspecialties. We describe the creation and outcomes of a structured program to increase academic productivity of PEM fellows. Methods:This was a retrospective cohort study of scholarly productivity (publications in peer-reviewed journals, presentation at national meetings) for PEM fellows over 17 years in one fellowship program, before and after the implementation of a structured program. We reviewed obstacles to publication for prior fellow projects when developing the curriculum. Our multifaceted program consisted of milestone development, four in-person committee meetings, and abstract and manuscript development workshops. We utilized existing faculty members, most of whom were junior faculty, as committee members. Our primary outcome was the percentage of fellows who were first authors for peer-reviewed publications for their fellowship projects. National conference presentations were the secondary outcome. Results:Data for 76 PEM fellows were eligible for analysis: 44 (58%) before and 32 after programmatic implementation. There was a statistically significant increase in the percentage of fellows who published their studies (32% vs. 63%; odds ratio [OR] = 3.6, 95% confidence interval [CI] = 1.4 to 9.3) after programmatic implementation. There were no differences in conference presentations (45% vs. 63%; OR = 2.0, 95% CI = 0.8-5.1) after implementation. Conclusions:Utilizing a small group of existing, predominantly junior faculty members, we created a structured program that enhanced PEM fellows' scholarly productivity and increased publications. We believe that this model is sustainable for and generalizable to other PEM fellowship programs.
| S-EPMC7369492 | biostudies-literature
Project description:ImportanceThe research agenda in pediatric hospital medicine has seldom considered the perspectives of young people, parents and caregivers, and health care professionals. Their perspectives may be useful in identifying questions on topics for research.ObjectiveTo prioritize unanswered research questions in pediatric hospital medicine from the perspectives of young people, parents/caregivers, and health care professionals.Design, setting, and participantsBetween August 4, 2020, and August 19, 2021, two online surveys and a virtual workshop were conducted, using modified Delphi technique and nominal group technique. Young people, parents/caregivers, and health care professionals with experiences in pediatric hospital medicine in Canada were included.InterventionsThe established James Lind Alliance Priority Setting Partnership method was used. In phase 1, a survey collected unanswered questions regarding pediatric hospital medicine via 3 open-ended questions. Survey responses were used to develop summary questions that went through an evidence-checking process. Unanswered questions were brought to a phase 2 interim prioritization survey. The top 10 unanswered research questions in pediatric hospital medicine were established at the final priority setting workshop.Main outcomes and measuresSurvey responses, top 10 research questions.ResultsThe phase 1 survey was completed by 188 participants (148 of 167 [89%] females; 17 of 167 [10%] males; mean [SD] age, 39.5 [12.4] years) and generated 495 unanswered research questions and comments, of which 58 were deemed out of scope. The remaining 437 responses were grouped into themes (eg, communication, shared decision-making, health service delivery, and health service management) and then refined to 75 unanswered research questions. Of these 75, only 4 questions had sufficient evidence. To make the number of questions in phase 2 manageable, 21 questions submitted by only 1 respondent were eliminated. Fifty unanswered research questions were included in the phase 2 survey, which was completed by 201 participants (165 of 186 [89%] females; 19 of 186 [10%] males; mean [SD] age, 40.0 [11.0] years). A short list of 16 questions-the top 10 questions from patient partners (youths, parents/caregivers) and clinicians-was presented at the final priority setting workshop and the top 10 questions were prioritized. The top 10 questions focused on the care of special inpatient populations (eg, children with medical complexity), communication, shared decision-making, support strategies in the hospital, mental health supports, shortening length of stay, and supporting Indigenous patients, parents/caregivers, and families.Conclusions and relevanceThis patient-oriented pediatric hospital medicine priority setting partnership identified the most important unanswered research questions focused on the care of children in the hospital. These questions provide a possible roadmap for research on areas deemed important to young people, parents/caregivers, and clinicians.
| S-EPMC9044112 | biostudies-literature
Project description:* To evaluate genome-wide drug variants in the Somali population * To be able to detect pharmacogenetic variants of importance in the Somali populaion * To infer HLA alleles and blood group variants in Somalia
2020-03-19 | E-MTAB-8331 | biostudies-arrayexpress