A5013186804- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Cardiac pacing and defibrillation studies
- Cystic Fibrosis Research Advances
- Cardiac electrophysiology and arrhythmias
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Cardiovascular Effects of Exercise
- Cardiac Arrhythmias and Treatments
- Metabolism and Genetic Disorders
- Atrial Fibrillation Management and Outcomes
- Congenital Heart Disease Studies
- Pulmonary Hypertension Research and Treatments
- Heart Failure Treatment and Management
- Biomedical Ethics and Regulation
- Folate and B Vitamins Research
- Empathy and Medical Education
- Ethics in Clinical Research
- Health Systems, Economic Evaluations, Quality of Life
- Delphi Technique in Research
- Family Support in Illness
- Neonatal Health and Biochemistry
- Genomic variations and chromosomal abnormalities
- Aging and Gerontology Research
- Tracheal and airway disorders
University Medical Center Utrecht
2020-2025
Netherlands Heart Institute
2019-2025
University Hospital Heidelberg
2023-2025
Heidelberg University
2023-2025
Amsterdam University Medical Centers
2019-2024
Vrije Universiteit Amsterdam
2022-2024
University Medical Center Groningen
2019-2023
University of Groningen
2019-2023
Utrecht University
2020-2022
University of Amsterdam
2019-2022
Expanded carrier screening (ECS) aims to inform couples' reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility test-offer and degree participant informed choice (IC). Trained GPs from nine practices northern Netherlands invited 4295 female patients aged 18–40 take couple-based ECS. Inclusion criteria were having male partner, planning for...
Expansion of newborn bloodspot screening (NBS) can increase health gain for more children but also increases the number false-positive and uncertain results. The impact abnormal inconclusive NBS results on parental well-being healthcare utilization was investigated. A questionnaire sent to Dutch parents receiving an or result five weeks (T1) four months (T2) post-NBS compared with a normal (controls). In total, 35 true-positive (TP), 20 (FP), 57 (IC) participants 268 controls filled out T1;...
Abstract Aims In patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare inherited arrhythmia syndrome, arrhythmic events can be prevented by medication and lifestyle recommendations. who experience breakthrough events, non-adherence plays an essential role. We aimed to investigate the incidence potential reasons for recommendations in large, international cohort of CPVT. Methods results An online multilingual survey was shared CPVT worldwide their cardiologists,...
Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases caused by genetic defects. This study sought to assess the diagnostic yield of testing Dutch cohort 126 PAH patients. Historically, Netherlands consisted analysis BMPR2 SMAD9. These genes were analyzed 70 A (likely) pathogenic (LP/P) variant was detected 22 (31%) them. After identification additional associated genes, next generation sequencing (NGS) panel consisting 19 developed 2018. Additional...
Abstract The uptake of predictive DNA testing in families with a hereditary disease is <50%. Current practice often relies on the proband to inform relatives about possibility testing, but not all are informed adequately. To enable decision‐making concerning approach used at‐risk needs be optimized. This study investigated preferences patients, relatives, and general population from Netherlands how at risk autosomal dominant diseases. Online surveys were sent people neuro‐, onco‐, or...
Inherited cardiac conditions present with a wide range of symptoms and may even result in sudden death. Relatives probands confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention treatment. In 2 previous cohort studies 115 variant, family uptake counseling was assessed the first year(s) after test disclosure proband. This study assesses these cohorts 14 23 years following disclosure.Uptake determined retrospectively using patient records. First-degree...
Faster and cheaper next generation sequencing technologies have enabled expansion of carrier screening for recessive disorders, potentially facilitating population-based implementation regardless ancestry or family history. Little is known, however, about the attitudes regarding among families with genetic disorders. This study assessed views parents patients a disorder children Down syndrome (DS) on expanded (ECS).In total, 85 various 110 child 89 DS participated in an online survey...
BackgroundGenetic heart diseases (GHDs) can be clinically heterogeneous and pose an increased risk of sudden cardiac death (SCD). The implantable cardioverter-defibrillator (ICD) is a lifesaving therapy. Impacts on prospective long-term psychological health-related quality life (HR-QoL) after ICD implant in patients with GHDs are unknown.ObjectivesInvestigate the functioning HR-QoL over time who receive ICD, identify factors for poor HR-QoL.MethodsA longitudinal, study design was used....
Digital interventions are potentially promising to improve accessibility and efficiency of genetic counselling services. However, current literature on stakeholder perspectives towards digital tools for cascade testing is limited. Therefore, this focus-group study aimed gain insights into the attitude probands, at-risk relatives (ARR), healthcare professionals (HCP) innovations assistance with both pre-test post-test in cardiogenetics. We conducted seven online focus-groups, which where...
In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on uptake genetic counselling and in suggests that not all sufficiently informed. We developed randomised controlled trial evaluate effectiveness tailored approach which decide together with counsellor they themselves prefer have informed by counsellor. Here, we present study...
Population-based expanded carrier screening (ECS) involves for multiple recessive diseases offered to all couples considering a pregnancy or during pregnancy. Previous research indicates that in some countries primary care professionals are perceived as suitable providers ECS. However, little is known about their perspectives. We therefore aimed explore professionals' views on population-based
ABSTRACT Introduction The present uptake of predictive genetic counselling among at-risk relatives (ARRs) for cardiogenetic diseases is suboptimal with 40-50% ARRs being tested after one to three years post- disclosure. Digital technologies are increasingly proposed improve accessibility, efficiency, and and, if desired, testing. Therefore, DNA- poli was developed: a digital platform providing family communication support pre- post-test ARRs. online DNA-poli aims decrease the threshold seek...
With advances in sequencing technologies, increasing numbers of people are being informed about a genetic disease identified their family. In current practice, probands (the first person family whom predisposition is identified) asked to inform at-risk relatives the diagnosis. However, previous research has shown that sometimes not due barriers such as conflicts. Research on communication diseases aims explore difficulties encountered informing and identify ways support this.
Abstract Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low levels be detected by newborn bloodspot screening (NBS). However, NBS also identify, mostly asymptomatic, mothers with primary deficiency. To identify mothers’ needs and areas for improving practice, this study explored the experiences with, opinions on among women diagnosed through their newborn. Methods Twelve Dutch were interviewed, 3–11...