Designing expanded carrier screening panels : results of a qualitative study with European geneticists
- Author
- Davit Chokoshvili, Sandra Janssens (UGent) , Danya Vears and Pascal Borry
- Organization
- Abstract
- Aim: To explore the views of clinical and molecular geneticists on the inclusion of disorders and specific pathogenic mutations into expanded carrier screening (ECS) tests for reproductive purposes. Materials & methods: In-depth semistructured interviews were conducted with 16 European geneticists between April and September 2014. Results: All participants supported carrier screening for severe, childhood-onset autosomal recessive disorders with known natural history. Some participants were also in favor of screening for late-onset and X-linked disorders. Regarding selection of specific pathogenic mutations, our participants argued that ECS should include highly penetrant pathogenic mutations with known genotype-phenotype associations. Conclusion: This study highlights main challenges surrounding the development of ECS panels and offers suggestions for future research in this rapidly advancing field.
- Keywords
- GAUCHER-DISEASE, CYSTIC-FIBROSIS, FRAGILE-X, GYNECOLOGISTS, OBSTETRICIANS, STATEMENT, TYPE-1, MODEL, expanded carrier screening, genetics, interviews, population screening, qualitative research, reproductive genetics
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-8700798
- MLA
- Chokoshvili, Davit, et al. “Designing Expanded Carrier Screening Panels : Results of a Qualitative Study with European Geneticists.” PERSONALIZED MEDICINE, vol. 13, no. 6, 2016, pp. 553–62, doi:10.2217/pme-2016-0018.
- APA
- Chokoshvili, D., Janssens, S., Vears, D., & Borry, P. (2016). Designing expanded carrier screening panels : results of a qualitative study with European geneticists. PERSONALIZED MEDICINE, 13(6), 553–562. https://doi.org/10.2217/pme-2016-0018
- Chicago author-date
- Chokoshvili, Davit, Sandra Janssens, Danya Vears, and Pascal Borry. 2016. “Designing Expanded Carrier Screening Panels : Results of a Qualitative Study with European Geneticists.” PERSONALIZED MEDICINE 13 (6): 553–62. https://doi.org/10.2217/pme-2016-0018.
- Chicago author-date (all authors)
- Chokoshvili, Davit, Sandra Janssens, Danya Vears, and Pascal Borry. 2016. “Designing Expanded Carrier Screening Panels : Results of a Qualitative Study with European Geneticists.” PERSONALIZED MEDICINE 13 (6): 553–562. doi:10.2217/pme-2016-0018.
- Vancouver
- 1.Chokoshvili D, Janssens S, Vears D, Borry P. Designing expanded carrier screening panels : results of a qualitative study with European geneticists. PERSONALIZED MEDICINE. 2016;13(6):553–62.
- IEEE
- [1]D. Chokoshvili, S. Janssens, D. Vears, and P. Borry, “Designing expanded carrier screening panels : results of a qualitative study with European geneticists,” PERSONALIZED MEDICINE, vol. 13, no. 6, pp. 553–562, 2016.
@article{8700798,
abstract = {{Aim: To explore the views of clinical and molecular geneticists on the inclusion of disorders and specific pathogenic mutations into expanded carrier screening (ECS) tests for reproductive purposes. Materials & methods: In-depth semistructured interviews were conducted with 16 European geneticists between April and September 2014. Results: All participants supported carrier screening for severe, childhood-onset autosomal recessive disorders with known natural history. Some participants were also in favor of screening for late-onset and X-linked disorders. Regarding selection of specific pathogenic mutations, our participants argued that ECS should include highly penetrant pathogenic mutations with known genotype-phenotype associations. Conclusion: This study highlights main challenges surrounding the development of ECS panels and offers suggestions for future research in this rapidly advancing field.}},
author = {{Chokoshvili, Davit and Janssens, Sandra and Vears, Danya and Borry, Pascal}},
issn = {{1741-0541}},
journal = {{PERSONALIZED MEDICINE}},
keywords = {{GAUCHER-DISEASE,CYSTIC-FIBROSIS,FRAGILE-X,GYNECOLOGISTS,OBSTETRICIANS,STATEMENT,TYPE-1,MODEL,expanded carrier screening,genetics,interviews,population screening,qualitative research,reproductive genetics}},
language = {{eng}},
number = {{6}},
pages = {{553--562}},
title = {{Designing expanded carrier screening panels : results of a qualitative study with European geneticists}},
url = {{http://doi.org/10.2217/pme-2016-0018}},
volume = {{13}},
year = {{2016}},
}
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