Clinician views and experiences of non-invasive prenatal genetic screening tests in Australia

Journal article


McKinn, Shannon, Javid, Nasrin, Newson, Ainsley J., Freeman, Lucinda, Bonner, Carissa, Shand, Antonia W., Nassar, Natasha and Bell, Katy J. L.. (2022). Clinician views and experiences of non-invasive prenatal genetic screening tests in Australia. Australian and New Zealand Journal of Obstetrics and Gynaecology. 62(6), pp. 830-837. https://doi.org/10.1111/ajo.13533
AuthorsMcKinn, Shannon, Javid, Nasrin, Newson, Ainsley J., Freeman, Lucinda, Bonner, Carissa, Shand, Antonia W., Nassar, Natasha and Bell, Katy J. L.
Abstract

Background
Non-invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice. Potential psychosocial consequences from this kind of prenatal genetic screening remain largely unexplored.

Aims
To explore clinicians' experiences with NIPS for aneuploidy, their perspectives of the benefits and harms of NIPS, clinicians' information needs, and their perceptions of the needs of expectant parents.

Materials and Methods
Qualitative, semi-structured interviews with 17 health professionals (clinical geneticists, obstetricians, genetic counsellors and general practitioners) who request and counsel for NIPS in Australian hospital and private practice settings, conducted between June 2019 and February 2020.

Results
Five themes were identified relating to clinicians' perceptions and experiences of NIPS in their practice: perceived benefits of NIPS, perceived harms of NIPS (with two subthemes: clinical harms and psychosocial harms), financial and equity-related concerns, counselling as a protective buffer against perceived harms, and clinicians' unmet education needs. While clinicians view NIPS as a useful and high-quality screening test, especially for detection of common trisomies, many participants had concerns about how NIPS has been implemented in practice, particularly the quality (and often absence) of pre-/post-test counselling and the routinisation of testing for sex chromosome aneuploidies, microdeletion and microduplication syndromes.

Conclusion
These findings support the need for targeted clinician training around NIPS, and for a shared decision-making approach to support expectant parents' autonomous decisions about NIPS.

Keywordsnon-invasive prenatal testing; genetic testing; prenatal diagnosis; genetic counselling; pregnancy
Year2022
JournalAustralian and New Zealand Journal of Obstetrics and Gynaecology
Journal citation62 (6), pp. 830-837
PublisherJohn Wiley & Sons Australia, Ltd
ISSN0004-8666
Digital Object Identifier (DOI)https://doi.org/10.1111/ajo.13533
PubMed ID35538635
Scopus EID2-s2.0-85129691782
PubMed Central IDPMC10946867
Page range830-837
FunderNational Health and Medical Research Council (NHMRC)
Publisher's version
License
File Access Level
Open
Output statusPublished
Publication dates
Online10 May 2022
Publication process dates
Accepted24 Mar 2022
Deposited04 May 2025
Grant ID1104136
1174523
Additional information

© 2022 The Authors. Australian and New Zealand Journal of Obstetrics and Gynaecology published by John Wiley & Sons Australia, Ltd on behalf of Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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