A5077726256- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Ethics in Clinical Research
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- Biomedical Ethics and Regulation
- Nutrition, Genetics, and Disease
- Assisted Reproductive Technology and Twin Pregnancy
- CRISPR and Genetic Engineering
- Ethics and Legal Issues in Pediatric Healthcare
- Hemoglobinopathies and Related Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Reproductive Health and Technologies
- Congenital Anomalies and Fetal Surgery
- Pregnancy and Medication Impact
- Fetal and Pediatric Neurological Disorders
- Pharmaceutical studies and practices
- Pregnancy and preeclampsia studies
- Child and Adolescent Health
- Metabolism and Genetic Disorders
- Cancer Genomics and Diagnostics
- Esophageal and GI Pathology
- Pharmacogenetics and Drug Metabolism
- Health Promotion and Cardiovascular Prevention
Vrije Universiteit Amsterdam
2012-2025
Amsterdam University Medical Centers
2018-2025
Public Health Service of Amsterdam
2017-2024
University of Amsterdam
2021-2024
Emma Kinderziekenhuis
2021-2024
Radboud University Nijmegen
2009-2021
Radboud University Medical Center
2009-2021
's Heeren Loo
2021
Maastricht University
2021
University Health Network
2021
This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening non-invasive testing (NIPT). By virtue of its greater accuracy and safety respect to for common autosomal aneuploidies, NIPT has the potential helping practice better achieve aim facilitating autonomous reproductive choices, provided that balanced pretest information non-directive counseling are available as part offer. Depending on health-care setting,...
This document of the European Society Human Genetics contains recommendations regarding responsible implementation expanded carrier screening. Carrier screening is defined here as detection status recessive diseases in couples or persons who do not have an a priori increased risk being based on their partners' personal family history. Expanded offers for multiple autosomal and X-linked disorders, facilitated by new genetic testing technologies, allows individuals regardless ancestry...
Summary: Purpose : The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use a surveillance system (MADRE) infants with malformations. Methods Information on all malformed (1990–1996) maternal first‐trimester drug exposure collected by International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were defined as presenting specific malformation, controls any other birth defect. Exposure AEDs during first trimester pregnancy....
Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises concerns and issues above beyond those encountered with offered within the traditional health care setting. In order to bring some these light initiate dialogue on this topic, article discusses following issues: current (until end 2010) through online companies; implications for informed consent procedure need good information; medical supervision follow-up;...
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...
The recent emphasis on value-based health care (VBHC) is thought to provide new opportunities for shared decision-making (SDM) in the Netherlands, especially when using patient-reported outcome measures (PROMs) routine medical encounters. It still largely unclear about how PROMs could be linked SDM and what we expect from clinicians this respect.
The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat prevent many more serious early-onset health conditions than is possible today. Paediatric Task Team the Global Alliance Genomics Health's Regulatory Ethics Working Group reviewed current understanding concerns regarding genomic technologies developed, by consensus, eight recommendations clinicians, clinical laboratory scientists, policy makers. Before...
If genome sequencing is performed in health care, theory the opportunity arises to take a further look at data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) 2013 recommended that analysis should be restricted original problem least for time being. Other organizations have argued 'actionable' genetic variants or could reported (including American College Medical and Genomics, French Predictive Personalized Medicine, Genomics England). They argue used...
The advent and refinement of sequencing technologies has resulted in a decrease both the cost time needed to generate data on entire sequence human genome. This increased accessibility using whole-genome whole-exome approaches for analysis research clinical contexts. expectation is that more services based these other high-throughput will become available patients wider population. Some authors predict be performed once lifetime, namely, shortly after birth. Public Professional Policy...
Sudden cardiac death (SCD) accounts for 10–20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component SCD younger cases, postmortem testing may be particularly useful elucidating etiological factors cause this subset. The identification genes responsible inherited diseases have led to organization cardiogenetic consultations many countries worldwide. Expert recommendations are available, emphasizing importance and appropriate...
Technological advances have increased the availability of genomic data in research and clinic. If, over time, interpretation significance changes, or new information becomes available, question arises as to whether recontacting patient and/or family is indicated. The Public Professional Policy Committee European Society Human Genetics (ESHG), together with groups from UK Netherlands, developed recommendations on which, after public consultation, been endorsed by ESHG Board. In clinical...
In recent years, various private companies have been marketing and offering genetic tests directly to consumers. This article reviews the history of this commercial phenomenon. particular, we discuss describe following subjects: (1) factors that allowed for creation direct-to-consumer (DTC) testing (GT) market; (2) information regarding size potential success or failure DTC GT (3) changes in (4) events may an impact on regulatory oversight future evolution market. review suggests despite...