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Attitudes of European geneticists regarding expanded carrier screening

Sandra Janssens, Davit Chokoshvili, Danya Vears, Anne De Paepe UGent and Pascal Borry (2017) JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING. 46(1). p.63-71
abstract
Objective: To explore attitudes of clinical and molecular geneticists about the implementation of multi-disease or expanded carrier screening (ECS) for monogenic recessive disorders. Design: Qualitative; semistructured interviews. Setting: In person or via Skype. Interviews were audiorecorded and transcribed verbatim. Participants: European clinical and molecular geneticists with expertise in carrier screening (N = 16). Methods: Inductive content analysis was used to identify common content categories in the data. Results: Participants recognized important benefits of ECS, but they also identified major challenges, including limited benefit of ECS for most couples in the general population, lack of knowledge on carrier screening among nongenetic health care providers and the general public, potential negative implications of ECS for society, and limited economic resources. Participants favored an evidence-based approach to the implementation of population-wide ECS and were reluctant to actively offer ECS in the absence of demonstrable benefits. However, there was a consensus among the participants that ECS should be made available to couples who request the test. In addition, they believed ECS could be routinely offered to all people who use assisted reproduction. Conclusion: Although a limited ECS offer is practical, it also raises concerns over equality in access to screening. A comprehensive risk-benefit analysis is needed to determine the desirability of systematic population-wide ECS.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GYNECOLOGISTS, OBSTETRICIANS, POPULATION, DISEASE, IMPLEMENTATION, DISORDERS, OPINIONS, attitudes, carrier screening, ethics, qualitative research, recessive, disorders
journal title
JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING
JOGNN
volume
46
issue
1
pages
63 - 71
Web of Science type
Article
Web of Science id
000396438700011
ISSN
0884-2175
1552-6909
DOI
10.1016/j.jogn.2016.08.012
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8551689
handle
http://hdl.handle.net/1854/LU-8551689
date created
2018-02-23 10:27:29
date last changed
2018-05-15 09:52:21
@article{8551689,
  abstract     = {Objective: To explore attitudes of clinical and molecular geneticists about the implementation of multi-disease or expanded carrier screening (ECS) for monogenic recessive disorders. 
Design: Qualitative; semistructured interviews. 
Setting: In person or via Skype. Interviews were audiorecorded and transcribed verbatim. 
Participants: European clinical and molecular geneticists with expertise in carrier screening (N = 16). 
Methods: Inductive content analysis was used to identify common content categories in the data. 
Results: Participants recognized important benefits of ECS, but they also identified major challenges, including limited benefit of ECS for most couples in the general population, lack of knowledge on carrier screening among nongenetic health care providers and the general public, potential negative implications of ECS for society, and limited economic resources. Participants favored an evidence-based approach to the implementation of population-wide ECS and were reluctant to actively offer ECS in the absence of demonstrable benefits. However, there was a consensus among the participants that ECS should be made available to couples who request the test. In addition, they believed ECS could be routinely offered to all people who use assisted reproduction. 
Conclusion: Although a limited ECS offer is practical, it also raises concerns over equality in access to screening. A comprehensive risk-benefit analysis is needed to determine the desirability of systematic population-wide ECS.},
  author       = {Janssens, Sandra and Chokoshvili, Davit and Vears, Danya and De Paepe, Anne and Borry, Pascal},
  issn         = {0884-2175},
  journal      = {JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING},
  keyword      = {GYNECOLOGISTS,OBSTETRICIANS,POPULATION,DISEASE,IMPLEMENTATION,DISORDERS,OPINIONS,attitudes,carrier screening,ethics,qualitative research,recessive,disorders},
  language     = {eng},
  number       = {1},
  pages        = {63--71},
  title        = {Attitudes of European geneticists regarding expanded carrier screening},
  url          = {http://dx.doi.org/10.1016/j.jogn.2016.08.012},
  volume       = {46},
  year         = {2017},
}

Chicago
Janssens, Sandra, Davit Chokoshvili, Danya Vears, Anne De Paepe, and Pascal Borry. 2017. “Attitudes of European Geneticists Regarding Expanded Carrier Screening.” Jognn-journal of Obstetric Gynecologic and Neonatal Nursing 46 (1): 63–71.
APA
Janssens, Sandra, Chokoshvili, D., Vears, D., De Paepe, A., & Borry, P. (2017). Attitudes of European geneticists regarding expanded carrier screening. JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING, 46(1), 63–71.
Vancouver
1.
Janssens S, Chokoshvili D, Vears D, De Paepe A, Borry P. Attitudes of European geneticists regarding expanded carrier screening. JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING. 2017;46(1):63–71.
MLA
Janssens, Sandra, Davit Chokoshvili, Danya Vears, et al. “Attitudes of European Geneticists Regarding Expanded Carrier Screening.” JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING 46.1 (2017): 63–71. Print.