TY - JOUR
T1 - Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review
AU - Pasquier, L.
AU - Reyneke, M.
AU - Beeckman, L.
AU - Siermann, M.
AU - Van Steijvoort, E.
AU - Borry, P.
N1 - Funding Information:
This work has been carried out within the framework of the FHU GenOMedS thanks to the support of the Health cooperation group of University Hospitals of the Great West (GCS HUGO) and the National Alliance for Life Sciences and Health (Aviesan). The authors wish to thank Thomas Vandendriessche, Kristel Paque and Krizia Tuand, the biomedical reference librarians of the KU Leuven Libraries – 2Bergen – learning Centre Désiré Collen (Leuven, Belgium), for their help in conducting the systematic literature search. We also thank Zoë Claesen who participated in the study review process.
Funding Information:
This work has been carried out within the framework of the FHU GenOMedS thanks to the support of the Health cooperation group of University Hospitals of the Great West (GCS HUGO) and the National Alliance for Life Sciences and Health (Aviesan). The authors wish to thank Thomas Vandendriessche, Kristel Paque and Krizia Tuand, the biomedical reference librarians of the KU Leuven Libraries – 2Bergen – learning Centre Désiré Collen (Leuven, Belgium), for their help in conducting the systematic literature search. We also thank Zoë Claesen who participated in the study review process.
Publisher Copyright:
© 2023, The Author(s), under exclusive licence to European Society of Human Genetics.
PY - 2023/4
Y1 - 2023/4
N2 - Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but these tests have not been integrated in a public health policy except for specific sub-groups. We aimed to provide an overview of the perspectives of multiple professional stakeholder groups in order to enhance a responsible implementation of population-based reproductive genetic carrier screening. We conducted a systematic literature search using eight online databases focussing on studies that were published from January 2009 to January 2021. We selected articles dealing with attitudes and opinions from different professional stakeholders, in particular healthcare professionals and policymakers, on how to implement a policy about carrier screening for a reproductive purpose. We identified 18 studies that met our inclusion criteria. Based on our inductive analysis, we identified ten themes categorized in both clinical and program management challenges: ensuring availability of RGCS to all couples who request the test, embedding RGCS as a test offer before pregnancy, providing clear and reliable information, ensuring voluntary participation, developing genetic counselling pre- and post-testing (after positive or negative result), avoiding psychological harm, ensuring equal access, avoiding social pressure, educating and involving a broad spectrum of non-genetic health care professionals, and promoting an independent non-commercial organisational structure. We highlight one major stumbling block on how to responsibly inform couples about hundreds different genetic conditions within constraints regarding time and ability of non-genetic professionals. We promote further research to tackle the issues brought up by this systematic review through pilot studies. Trial Registration: PROSPERO International Prospective Register of Systematic Reviews PROSPERO 2021 # CRD42021233762; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=233762.
AB - Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but these tests have not been integrated in a public health policy except for specific sub-groups. We aimed to provide an overview of the perspectives of multiple professional stakeholder groups in order to enhance a responsible implementation of population-based reproductive genetic carrier screening. We conducted a systematic literature search using eight online databases focussing on studies that were published from January 2009 to January 2021. We selected articles dealing with attitudes and opinions from different professional stakeholders, in particular healthcare professionals and policymakers, on how to implement a policy about carrier screening for a reproductive purpose. We identified 18 studies that met our inclusion criteria. Based on our inductive analysis, we identified ten themes categorized in both clinical and program management challenges: ensuring availability of RGCS to all couples who request the test, embedding RGCS as a test offer before pregnancy, providing clear and reliable information, ensuring voluntary participation, developing genetic counselling pre- and post-testing (after positive or negative result), avoiding psychological harm, ensuring equal access, avoiding social pressure, educating and involving a broad spectrum of non-genetic health care professionals, and promoting an independent non-commercial organisational structure. We highlight one major stumbling block on how to responsibly inform couples about hundreds different genetic conditions within constraints regarding time and ability of non-genetic professionals. We promote further research to tackle the issues brought up by this systematic review through pilot studies. Trial Registration: PROSPERO International Prospective Register of Systematic Reviews PROSPERO 2021 # CRD42021233762; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=233762.
KW - EUROPEAN GENETICISTS
KW - OBSTETRICIANS
KW - PERSPECTIVES
U2 - 10.1038/s41431-022-01274-9
DO - 10.1038/s41431-022-01274-9
M3 - (Systematic) Review article
C2 - 36631542
SN - 1018-4813
VL - 31
SP - 395
EP - 408
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 4
ER -