Cargando…

Responsible implementation of expanded carrier screening

This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased...

Descripción completa

Detalles Bibliográficos
Autores principales:	Henneman, Lidewij, Borry, Pascal, Chokoshvili, Davit, Cornel, Martina C, van El, Carla G, Forzano, Francesca, Hall, Alison, Howard, Heidi C, Janssens, Sandra, Kayserili, Hülya, Lakeman, Phillis, Lucassen, Anneke, Metcalfe, Sylvia A, Vidmar, Lovro, de Wert, Guido, Dondorp, Wybo J, Peterlin, Borut
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Policy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867464/ https://www.ncbi.nlm.nih.gov/pubmed/26980105 http://dx.doi.org/10.1038/ejhg.2015.271

Ejemplares similares

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
por: Dondorp, Wybo, et al.
Publicado: (2015)

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives
por: Holtkamp, Kim C.A., et al.
Publicado: (2017)

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers
por: Borry, Pascal, et al.
Publicado: (2011)

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?
por: Holtkamp, Kim C A, et al.
Publicado: (2016)

One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans
por: Howard, Heidi C., et al.
Publicado: (2017)

Developing a policy for paediatric biobanks: principles for good practice
por: Hens, Kristien, et al.
Publicado: (2013)

Views of patients and parents of children with genetic disorders on population‐based expanded carrier screening
por: Woudstra, Anke J., et al.
Publicado: (2022)

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
por: de Wert, Guido, et al.
Publicado: (2020)

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape
por: Holtkamp, Kim C.A., et al.
Publicado: (2017)

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
por: Carrieri, Daniele, et al.
Publicado: (2018)

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy: European Society of Human Genetics and European Society of Human Reproduction and Embryology
por: Harper, Joyce C, et al.
Publicado: (2013)

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
por: Fellmann, Florence, et al.
Publicado: (2019)

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation
por: Holtkamp, Kim C. A., et al.
Publicado: (2018)

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists’ views
por: Janssens, Sandra, et al.
Publicado: (2017)

How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples
por: van Dijke, Ivy, et al.
Publicado: (2020)

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population
por: Conijn, Thirsa, et al.
Publicado: (2021)

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer
por: van Dijke, Ivy, et al.
Publicado: (2021)

Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study
por: Wijdenes-Pijl, Miranda, et al.
Publicado: (2011)

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening
por: Nijmeijer, Stephanie C. M., et al.
Publicado: (2020)

Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes
por: Conijn, Thirsa, et al.
Publicado: (2020)

Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders
por: van Dijke, Ivy, et al.
Publicado: (2022)

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
por: Rigter, Tessel, et al.
Publicado: (2013)

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness
por: Severin, Franziska, et al.
Publicado: (2015)

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study
por: Holtkamp, Kim C. A., et al.
Publicado: (2017)

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
por: Howard, Heidi Carmen, et al.
Publicado: (2015)

What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?
por: van Schendel, Rachèl V., et al.
Publicado: (2016)

Refining the ethics of preimplantation genetic diagnosis: A plea for contextualized proportionality
por: Dondorp, Wybo, et al.
Publicado: (2018)

ESHG PPPC Comments on postmortem use of genetic data for research purposes
por: Fellmann, Florence, et al.
Publicado: (2019)

The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood
por: van der Hout, Sanne, et al.
Publicado: (2019)

Societal implications of expanded universal carrier screening: a scoping review
por: van den Heuvel, Lieke M., et al.
Publicado: (2022)

Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective
por: van Dijk, Tessa, et al.
Publicado: (2021)

Using non-human primates to benefit humans: research and organ transplantation—response to César Palacios-González
por: Dondorp, Wybo, et al.
Publicado: (2015)

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
por: Claustres, Mireille, et al.
Publicado: (2014)

Dealing with treatment and transfer requests: how PGD-professionals discuss ethical challenges arising in everyday practice
por: Soto-Lafontaine, Melisa, et al.
Publicado: (2017)

Just choice: a Danielsian analysis of the aims and scope of prenatal screening for fetal abnormalities
por: Stapleton, Greg, et al.
Publicado: (2019)

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes
por: Vidmar, Lovro, et al.
Publicado: (2019)

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide
por: Cornel, Martina C., et al.
Publicado: (2020)

Preconception care and genetic risk: ethical issues
por: De Wert, Guido M. W. R., et al.
Publicado: (2011)

Responsible innovation in human germline gene editing. Background document to the recommendations of ESHG and ESHRE(†)(‡)
por: de Wert, Guido, et al.
Publicado: (2018)

Balancing animal welfare and assisted reproduction: ethics of preclinical animal research for testing new reproductive technologies
por: Jans, Verna, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_nsj22c6nu8u6ibb715qo6uut9f