A5082707019- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Biomedical Ethics and Regulation
- CRISPR and Genetic Engineering
- Nutrition, Genetics, and Disease
- Health Systems, Economic Evaluations, Quality of Life
- Neuroethics, Human Enhancement, Biomedical Innovations
- Cancer Genomics and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Reproductive Health and Technologies
- Mobile Health and mHealth Applications
- Lysosomal Storage Disorders Research
- Ethics and Legal Issues in Pediatric Healthcare
- Hemoglobinopathies and Related Disorders
- Innovation and Socioeconomic Development
- Science, Research, and Medicine
- Genetically Modified Organisms Research
- Glycogen Storage Diseases and Myoclonus
- Cystic Fibrosis Research Advances
- Pluripotent Stem Cells Research
- Genetic factors in colorectal cancer
- Biotechnology and Related Fields
- Health Policy Implementation Science
Vrije Universiteit Amsterdam
2018-2025
Amsterdam University Medical Centers
2018-2025
University of Amsterdam
2024
University Medical Center
2010-2019
University Hospital and Clinics
2019
Amsterdam UMC Location Vrije Universiteit Amsterdam
2010-2018
Amsterdam Public Health
2010-2017
Banaras Hindu University
2017
Centre for Cellular and Molecular Biology
2017
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...
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.
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...
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...
Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as useful selecting the that carry least of disease later life. It appears at one child has been born after such a procedure. But utility PRS this respect is severely limited, and date, no clinical research performed assess its diagnostic effectiveness embryos. Patients need be properly informed limitations use PRSs, societal debate, focused what would...
Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from public and healthcare professionals has been putting pressure on systems various countries. This study identifies challenges establishing responsible implementation aneuploidy healthcare, looking at Netherlands. A mixed methods approach involving 13 stakeholder interviews, document analysis (participatory) observations Dutch Consortium meetings were used. The...
Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently subject of important academic policy discussions. With advent efficient tools, such as CRISPR-Cas9, plausibility using gene editing safely humans either somatic germ line being considered seriously. Beyond safety issues, does raise ethical, legal social issues (ELSI), however, it suggested less challenging existing ethical frameworks;...
Technological developments in gene editing raise high expectations for clinical applications, including of the germline. The European Society Human Reproduction and Embryology (ESHRE) Genetics (ESHG) together developed a Background document Recommendations to inform stimulate ongoing societal debates. This provides background Recommendations. Germline is currently not allowed many countries. makes applications these countries impossible now, even if germline would become safe effective. What...
Background: Genetic testing and family history assessment can be used as an aid in the prevention of common chronic diseases. The aim this study was to determine public attitudes interests towards offering genetic history-based risk for disease prevention. Methods: Cross-sectional questionnaire survey a consumer panel representative Dutch population. sent 1399 members, aged ≥18 years. Results: response 70% (978/1399). About half respondents expressed interest prevent specific diseases...
Abstract Technological developments in gene editing raise high expectations for clinical applications, first of all somatic but theory also germline (GLGE). GLGE is currently not allowed many countries. This makes applications these countries impossible now, even if would become safe and effective. What were the arguments behind this legislation, are they still convincing? If a technique can help to avoid serious genetic disorders, effective way, be reason reconsider earlier standpoints? The...
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in screening. Summary recommendations
Medical practitioners are increasingly adopting a personalized medicine (PM) approach involving individually tailored patient care. The Personalized Prevention of Chronic Diseases (PRECeDI) consortium project, funded within the Marie Skłodowska Curie Action (MSCA) Research and Innovation Staff Exchange (RISE) scheme, had fostered collaboration on PM research training with special emphasis prevention chronic diseases. From 2014 to 2018, PRECeDI trained 50 staff members diseases through...
Given the potentially large ethical and societal implications of human germline gene editing (HGGE) urgent need for public stakeholder engagement (PSE) has been repeatedly expressed. However, explicit goals such PSE efforts often remain poorly defined. In this program report, we outline our Dutch project called De DNA dialogen (The dialogues). We believe that setting in advance is essential to enable meaningful efforts. Moreover, it enables evaluation The following four goals, which result...