TY - JOUR
T1 - Preconception expanded carrier screening
T2 - a focus group study with relatives of mucopolysaccharidosis type III patients and the general population
AU - Conijn, Thirsa
AU - van Dijke, Ivy
AU - Haverman, Lotte
AU - Lakeman, Phillis
AU - Wijburg, Frits A.
AU - Henneman, Lidewij
N1 - Funding Information: This work was supported by grants from the Zabawas foundation, Zeldzame Ziekten foundation, and Kinderen en Kansen, the Netherlands. The salary of ID was funded by the Amsterdam Reproduction & Development research institute, the Netherlands (Grant number 2017–170116). LHe and PL received funding from ZonMw to study the ethical aspects of (expanded) carrier screening (project 854020002). Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/7
Y1 - 2021/7
N2 - Preconception 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.
AB - Preconception 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.
KW - Expanded carrier screening
KW - Focus groups
KW - Genetic screening
KW - Mucopolysaccharidosis type III
KW - Perspectives
KW - Qualitative study
UR - http://www.scopus.com/inward/record.url?scp=85103184590&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s12687-021-00519-2
DO - https://doi.org/10.1007/s12687-021-00519-2
M3 - Article
C2 - 33754291
SN - 1868-310X
VL - 12
SP - 311
EP - 323
JO - Journal of Community Genetics
JF - Journal of Community Genetics
IS - 3
ER -