A5065687118- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Ethics in Clinical Research
- Pharmacogenetics and Drug Metabolism
- Pharmaceutical studies and practices
- Prenatal Screening and Diagnostics
- Primary Care and Health Outcomes
- Autism Spectrum Disorder Research
- Hemoglobinopathies and Related Disorders
- Genetics and Neurodevelopmental Disorders
- Biomedical Ethics and Regulation
- Health Systems, Economic Evaluations, Quality of Life
- Nutrition, Genetics, and Disease
- Ethics and Legal Issues in Pediatric Healthcare
- Epigenetics and DNA Methylation
- Mobile Health and mHealth Applications
- Pharmacological Effects and Toxicity Studies
- Lipoproteins and Cardiovascular Health
- Cancer therapeutics and mechanisms
- Biochemical and Molecular Research
- Chronic Disease Management Strategies
- Drug-Induced Adverse Reactions
- Iron Metabolism and Disorders
- Digital Mental Health Interventions
- Statistical Methods in Clinical Trials
Mayo Clinic
2022-2024
Mayo Clinic in Arizona
2023-2024
Leiden University Medical Center
2018-2023
Leiden University
2019-2023
WinnMed
2023
American Society of Safety Professionals
2023
University Medical Center Utrecht
2023
University Medical Center Groningen
2023
Radboud University Nijmegen
2023
Radboud University Medical Center
2023
Abstract Despite advances in the field of pharmacogenetics (PGx), clinical acceptance has remained limited. The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate PGx implementation by developing evidence-based guidelines optimize pharmacotherapy. This guideline describes starting dose optimization three anti-cancer drugs (fluoropyrimidines: 5-fluorouracil, capecitabine and tegafur) decrease risk severe, potentially fatal, toxicity (such as diarrhoea, hand-foot syndrome,...
Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances genomics. Postgraduate (physician training) and master (midwifery programmes public health failing meet these perceived educational needs. The aim this study was explore role (i.e. family medicine midwifery care) need area as by providers, patient advocacy groups clinical professionals. Forty-four participants took part three types focus...
Primary care is challenged to provide high quality, accessible and affordable for an increasingly ageing, complex, multimorbid population. To counter these challenges, primary professionals need take up new innovative practices, including eHealth. eHealth applications hold the promise overcome some difficulties encountered in of people with complex medical social needs care. However, many unanswered questions regarding (cost) effectiveness, integration healthcare, acceptability patients,...
Abstract Background eHealth promises to increase self-management and personalised medicine improve cost-effectiveness in primary care. Paired with these are ethical implications, as will affect patients' care professionals' (PCPs) experiences, values, norms, relationships. Objectives We argue what implications related the impact of on four vital aspects could (and should) be anticipated. Discussion (1) EHealth influences dealing predictive diagnostic uncertainty. Machine-learning based...
Rare diseases affect over 300 million people worldwide and are gaining recognition as a global health priority. Their inclusion in the UN Sustainable Development Goals, Resolution on Addressing Challenges of Persons Living with Disease, anticipated WHO Global Network for Diseases Diseases, which is yet to be announced, emphasise their significance. People rare often face unmet needs, including access screening, diagnosis, therapy, comprehensive care. These challenges highlight need awareness...
Abstract Since the identification of mutations in MECP2 girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype‐genotype correlations. These studies produced conflicting results part related use different clinical severity scales, diagnostic criteria, stratification by age mutation group as well possible effects unbalanced X‐chromosome inactivation. The present study applied a revised ordinal scoring system that allowed for correction patient ages....
PurposeGeneral practitioners (GPs) are increasingly expected to deliver genetics services in daily patient care. Education primary care is considered suboptimal and urgent need of revision innovation. The aim this study was prioritize topics for education general practice.MethodsA Delphi consensus procedure consisting three rounds conducted. A purposively selected heterogeneous panel (n = 18) experts, comprising six practicing GPs who were also engaged research, five GP trainers, four...
Medical professionals are increasingly expected to deliver genetic services in daily patient care. However, genetics education is considered be suboptimal and urgent need of revision innovation. We designed a Genetics e-learning Continuing Professional Development (CPD) module aimed at improving general practitioners’ (GPs’) knowledge about oncogenetics, we conducted randomized controlled trial evaluate the outcomes first two levels Kirkpatrick framework (satisfaction, learning behavior)....
The neurologic disorder Rett syndrome was originally described exclusively in girls. We present two boys with clinical features of syndrome. Other than head circumference deceleration, no longer considered mandatory, patient 1 meets all the criteria. Using fluorescent situ hybridization analysis, 97.6% cells were found to be karyotypically normal (46,XY). No mutation detected on screening coding region MECP2 gene. second also has classic However, cytogenetic analysis peripheral blood...
Abstract Background Education is essential to the integration of eHealth into primary care, but not yet embedded in medical education. Objectives In this opinion article, we aim support organisers Continuing Professional Development (CPD) and teachers delivering vocational training by providing recommendations for First, describe what required help care professionals trainees learn about eHealth. Second, elaborate on how education might be provided. Discussion We consider four topics. an...
General practitioners are increasingly called upon to deliver genetic services and could play a key role in translating potentially life-saving advancements oncogenetic technologies patient care. If general make an effective contribution this area, their genetics competencies need be upgraded. The aim of study was investigate whether oncogenetics training for improves consultation skills.In pragmatic, blinded, randomized controlled trial, the intervention consisted 4-h (December 2011 April...
General practitioners (GPs) are increasingly called upon to identify patients at risk for hereditary cancers, and their genetic competencies need be enhanced. This article gives an overview of a research project on how build effective educational modules genetics, assessed by randomized controlled trials (RCTs), reflecting the prioritized needs primary care physicians. It also reports ongoing study investigate long-term increase in consultation skills (1-year follow-up) interest satisfaction...
Abstract We propose A step‐by‐step roadmap to integrate genetics in the Electronic Patient Record Family Medicine and clinical research. This could make urgent operationalization of readily available genetic knowledge feasible research consequently improved medical care. Improving genomic literacy by training education is needed first. The second step improvement possibilities register family history such a way that queries can identify patients at risk. Adding codes ICPC chapters “A21...