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Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study

Abstract

Non-invasive prenatal testing’s (NIPT) potential to screen for a wide range of conditions is receiving growing attention. This study explores Canadian healthcare professionals’ perceptions towards NIPT’s current and possible future uses, including paternity testing, sex determination, and fetal whole genome sequencing. Semi-structured interviews were conducted with ten healthcare professionals, and another 184 participated in a survey. The triangulation of our findings shows that there is considerable agreement among healthcare professionals on expanding NIPT use for medical conditions including fetal aneuploidies and monogenic diseases, but not for non-medical conditions (sex determination for non-medical reasons and paternity testing), nor for risk predisposition information (late onset diseases and Fetal Whole Genome Sequencing). Healthcare professionals raise concerns related to eugenics, the future child’s privacy, and psychological and emotional burdens to prospective parents. Professional societies need to take these concerns into account when educating healthcare professionals on the uses of NIPT to ensure prospective parents’ reproductive decisions are optimal for them and their families.

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Data availability

The qualitative interview data analyzed during the current study are not publicly available because they might potentially include identifying information that could compromise research participant privacy and consent. Sections of anonymized data are available from the corresponding author on reasonable request. The interview guide used to collect data is provided as a supplementary file (Additional file 1) to the manuscript.

The survey questionnaire is provided as an additional file to the manuscript (Additional file 2).

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Acknowledgements

We are grateful to all the participants in this study and to those who helped in recruiting them. We also thank the American University of Beirut Medical Center and the Center hospitalier universitaire Sainte-Justine.

Funding

This study was completed under the PEGASUS (PErsonalized Genomics for prenatal Aneuploidy Screening USing maternal blood) grant, funded by Genome Canada, Genome Quebec, and the Canadian Institutes for Health Research (CIHR). None of the funding bodies had any input regarding the design of the study; the collection, analysis, or interpretation of data; nor in writing the manuscript.

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Authors and Affiliations

Authors

Contributions

HH and VR designed the qualitative study. HH collected the interview data. HH and GB analyzed the data, with input from JLCB, VR, AML. The survey was conceived by VR and AML, designed by VR, AML, JLCB, HH. Survey Data was interpreted by SB, VR, AML. HH and SB drafted the article. All authors critically reviewed the article and approved the final version for publication.

Corresponding author

Correspondence to Hazar Haidar.

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Competing interests

The authors declare no competing interests.

Ethical approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Approval for this study was obtained from the research ethics committee at the Center hospitalier universitaire Sainte-Justine (CHUSJ) (#3976) in Montreal, Quebec, Canada in September 2014 and from the institutional review board (IRB) at the American University of Beirut Medical Center (AUBMC), Beirut, Lebanon, in June 2015. Written informed consent was obtained from all study participants prior to data collection. Ethical approval for the surveys was obtained from the CHU Sainte-Justine associated with the University of Montreal (#3781) as well as from the CRCHU de Québec (#B14-10-2146), the Ottawa Hospital Research Institute, BC Children’s Hospital, the University of Calgary, and the Newfoundland and Labrador Health Research Ethics Authority.

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Haidar, H., Birko, S., Laberge, AM. et al. Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01151-5

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