scholarly journals Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes

2020 ◽  
Author(s):  
Thirsa Conijn ◽  
Stephanie C. M. Nijmeijer ◽  
Phillis Lakeman ◽  
Lidewij Henneman ◽  
Frits A. Wijburg ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Genetic Knowledge ◽  
Expanded Carrier Screening ◽  
Knowledge And Attitudes ◽  
Preconception Expanded Carrier Screening

What women want: General population perspectives and access to preconception expanded carrier screening

2021 ◽  
Author(s):  
Liya Rabkina ◽  
Amy Swanson ◽  
Sharon Aufox ◽  
Lauren Propst ◽  
Morris Fiddler ◽  
...  
Keyword(s):  
General Population ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

2021 ◽  
Author(s):  
Thirsa Conijn ◽  
Ivy van Dijke ◽  
Lotte Haverman ◽  
Phillis Lakeman ◽  
Frits A Wijburg ◽  
...  
Keyword(s):  
General Population ◽  
Focus Groups ◽  
Autosomal Recessive Disorder ◽  
Carrier Screening ◽  
Test Results ◽  
Focus Group Study ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening ◽  
Mps Iii ◽  
Prospective Parents

AbstractPreconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations people have towards the offer and use of ECS is limited. To enrich the public and professional discussion on ECS implementation, this study explored the perspectives towards various aspects of ECS in seven focus groups compromising first- and second-degree relatives of MPS III patients (N=9, N=4, N=5, N=5) and members of the general Dutch population (N=6, N=7, N=5). The focus groups were audio recorded and the transcripts were qualitatively analyzed to identify themes. Both relatives of MPS III patients and participants from the general population supported offering ECS, in particular for severe, childhood-onset disorders. Important barriers identified for ECS were a lack of genetic knowledge and a perceived lack of personal relevance and awareness, as well as out-of-pocket costs of testing. The majority of participants would prefer full disclosure of individual test results instead of couple-based test results. Moreover, offering people a choice for the way of reporting was proposed. All participants agreed that more efforts, for example by governmental campaigns, should be made to increase awareness on the availability, potentials, and limitations of ECS. Educating prospective parents about ECS is essential for increasing awareness and informed decision making. This study provides valuable insights that can be used by governments and public health authorities when considering implementation of preconception ECS.

scholarly journals Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

2020 ◽  
Vol 28 (10) ◽  
pp. 1331-1340
Author(s):  
Stephanie C. M. Nijmeijer ◽  
Thirsa Conijn ◽  
Phillis Lakeman ◽  
Lidewij Henneman ◽  
Frits A. Wijburg ◽  
...  
Keyword(s):  
Carrier Screening ◽  
Mucopolysaccharidosis Type ◽  
Expanded Carrier Screening ◽  
Type Iii ◽  
Mucopolysaccharidosis Type Iii ◽  
Preconception Expanded Carrier Screening

scholarly journals Corrigendum to: The ethics of preconception expanded carrier screening in patients seeking assisted reproduction

2021 ◽  
Vol 2021 (2) ◽  
Author(s):  
Guido de Wert ◽  
Sanne van der Hout ◽  
Mariëtte Goddijn ◽  
Rita Vassena ◽  
Lucy Frith ◽  
...  
Keyword(s):  
Assisted Reproduction ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Qualitative study of GPs’ views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives

BMJ Open ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. e056869
Author(s):  
Sofia Morberg Jämterud ◽  
Anke Snoek ◽  
I M van Langen ◽  
Marian Verkerk ◽  
Kristin Zeiler
Keyword(s):  
Decision Making ◽  
The Netherlands ◽  
Thematic Analysis ◽  
Population Based ◽  
Carrier Screening ◽  
Empirical Bioethics ◽  
Expanded Carrier Screening ◽  
Autonomous Decision ◽  
Preconception Expanded Carrier Screening ◽  
Existential Issues

ObjectiveBetween 2016 and 2017, a population-based preconception expanded carrier screening (PECS) test was developed in the Netherlands during a pilot study. It was subsequently made possible in mid-2018 for couples to ask to have such a PECS test from specially trained general practitioners (GPs). Research has described GPs as crucial in offering PECS tests, but little is known about the GPs’ views on PECS and their experiences of providing this test. This article presents a thematic analysis of the PECS practice from the perspective of GPs and a bioethical discussion of the empirical results.DesignEmpirical bioethics. A thematic analysis of qualitative semi-structured interviews was conducted, and is combined with an ethical/philosophical discussion.SettingThe Netherlands.Participants7 Dutch GPs in the Netherlands, interviewed in 2019–2020.ResultsTwo themes were identified in the thematic analysis: ‘Choice and its complexity’ and ‘PECS as prompting existential concerns’. The empirical bioethics discussion showed that the first theme highlights that several areas coshape the complexity of choice on PECS, and the need for shared relational autonomous decision-making on these areas within the couple. The second theme highlights that it is not possible to analyse the existential issues raised by PECS solely on the level of the couple or family. A societal level must be included, since these levels affect each other. We refer to this as ‘entangled existential genetics’.ConclusionThe empirical bioethical analysis leads us to present two practical implications. These are: (1) training of GPs who are to offer PECS should cover shared relational autonomous decision-making within the couple and (2) more attention should be given to existential issues evoked by genetic considerations, also during the education of GPs and in bioethical discussions around PECS.

ACMG Position Statement on Prenatal/Preconception Expanded Carrier Screening

2013 ◽  
Vol 68 (12) ◽  
pp. 785-787 ◽  
Author(s):  
Wayne W. Grody ◽  
Barry H. Thompson ◽  
Anthony R. Gregg ◽  
Lora H. Bean ◽  
Kristin G. Monaghan ◽  
...  
Keyword(s):  
Position Statement ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals ACMG position statement on prenatal/preconception expanded carrier screening

2013 ◽  
Vol 15 (6) ◽  
pp. 482-483 ◽  
Author(s):  
Wayne W. Grody ◽  
Barry H. Thompson ◽  
Anthony R. Gregg ◽  
Lora H. Bean ◽  
Kristin G. Monaghan ◽  
...  
Keyword(s):  
Position Statement ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening

scholarly journals Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

2017 ◽  
Vol 26 (5) ◽  
pp. 971-979 ◽  
Author(s):  
Marian J. Gilmore ◽  
Jennifer Schneider ◽  
James V. Davis ◽  
Tia L. Kauffman ◽  
Michael C. Leo ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Carrier Screening ◽  
Expanded Carrier Screening ◽  
Preconception Expanded Carrier Screening
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