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New Genetics and Society
Critical Studies of Contemporary Biosciences
Volume 43, 2024 - Issue 1
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Research Article

The salience of genomic information to reproductive autonomy: Australian healthcare professionals’ views on a changing prenatal testing landscape

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Article: e2332310 | Received 09 Oct 2023, Accepted 12 Mar 2024, Published online: 22 Apr 2024

References

  • Ackoff, R. L. 1989. “From Data to Wisdom.” Journal of Applied Systems Analysis 16: 3–9.
  • ACOG & SMFM. 2020. “Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226.” Obstetrics & Gynecology 136 (4): 859–867. https://doi.org/10.1097/AOG.0000000000004107.
  • Agatisa, Patricia K., Mary Beth Mercer, Marissa Coleridge, and Ruth M. Farrell. 2018. “Genetic Counselors’ Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians.” Journal of Genetic Counseling 27 (6): 1374–1385. https://doi.org/10.1007/s10897-018-0268-y.
  • Baldus, Marion. 2023. “‘Overestimated Technology - Underestimated Consequences’ - Reflections on Risks, Ethical Conflicts, and Social Disparities in the Handling of Non-Invasive Prenatal Tests (NIPTs).” Medicine, Health Care, and Philosophy 26 (2): 271–282. https://doi.org/10.1007/s11019-023-10143-1.
  • Benn, Peter, and Audrey R. Chapman. 2016. “Ethical and Practical Challenges in Providing Noninvasive Prenatal Testing for Chromosome Abnormalities: An Update.” Current Opinion in Obstetrics & Gynecology 28 (2): 119–124. https://doi.org/10.1097/GCO.0000000000000254.
  • Bernhardt, Barbara A., Danielle Soucier, Karen Hanson, Melissa S. Savage, Laird Jackson, and Ronald J. Wapner. 2013. “Women’s Experiences Receiving Abnormal Prenatal Chromosomal Microarray Testing Results.” Genetics in Medicine 15 (2): 139–145. https://doi.org/10.1038/gim.2012.113.
  • Best, Sunayna, Karen Wou, Neeta Vora, Ignatia B. Van der Veyver, Ronald Wapner, and Lyn S. Chitty. 2018. “Promises, Pitfalls and Practicalities of Prenatal Whole Exome Sequencing.” Prenatal Diagnosis 38 (1): 10–19. https://doi.org/10.1002/pd.5102.
  • Bordalo, Pedro, Nicola Gennaioli, and Andrei Shleifer. 2022. “Salience.” Annual Review of Economics 14 (1): 521–544. https://doi.org/10.1146/annurev-economics-051520-011616.
  • Bowman-Smart, Hilary, Julian Savulescu, Cara Mand, Christopher Gyngell, Mark D. Pertile, Sharon Lewis, and Martin B. Delatycki. 2019. “‘Small Cost to Pay for Peace of Mind’: Women’s Experiences with Non-Invasive Prenatal Testing.” Australian and New Zealand Journal of Obstetrics and Gynaecology 59 (5): 649–655. https://doi.org/10.1111/ajo.12945.
  • Braun, Virginia, and Victoria Clarke. 2022. Thematic Analysis: A Practical Guide. London: SAGE Publications Ltd.
  • Bull, Marilyn J. 2020. “Down Syndrome.” New England Journal of Medicine 382 (24): 2344–2352. https://doi.org/10.1056/NEJMra1706537.
  • Christiaens, Lieve, Lyn S. Chitty, and Sylvie Langlois. 2021. “Current Controversies in Prenatal Diagnosis: Expanded NIPT That Includes Conditions Other than Trisomies 13, 18, and 21 Should Be Offered.” Prenatal Diagnosis 41 (10): 1316–1323. https://doi.org/10.1002/pd.5943.
  • de Jong, Antina, Wybo J. Dondorp, Merryn V. E. Macville, Christine E. M. de Die-Smulders, Jan M. M. van Lith, and Guido M. W. R. de Wert. 2014. “Microarrays as a Diagnostic Tool in Prenatal Screening Strategies: Ethical Reflection.” Human Genetics 133 (2): 163–172. https://doi.org/10.1007/s00439-013-1365-5.
  • de Melo-Martín, Inmaculada. 2006. “Genetic Testing: The Appropriate Means for a Desired Goal?” Journal of Bioethical Inquiry 3 (3): 167–177. https://doi.org/10.1007/s11673-006-9015-4.
  • Dive, Lisa, and Ainsley J. Newson. 2018. “Reconceptualizing Autonomy for Bioethics.” Kennedy Institute of Ethics Journal 28 (2): 171–203. https://doi.org/10.1353/ken.2018.0013.
  • Donchin, Anne. 1996. “Feminist Critiques of New Fertility Technologies: Implications for Social Policy.” Journal of Medicine and Philosophy 21 (5): 475–498. https://doi.org/10.1093/jmp/21.5.475.
  • Donchin, Anne. 2001. “Understanding Autonomy Relationally: Toward a Reconfiguration of Bioethical Principles.” The Journal of Medicine and Philosophy 26 (4): 365–386. https://doi.org/10.1076/jmep.26.4.365.3012.
  • Dondorp, W. J., G. C. M. L. Page-Christiaens, and G. M. W. R. de Wert. 2016. “Genomic Futures of Prenatal Screening: Ethical Reflection.” Clinical Genetics 89 (5): 531–538. https://doi.org/10.1111/cge.12640.
  • Donley, Greer, Sara Chandros Hull, and Benjamin E. Berkman. 2012. “Prenatal Whole Genome Sequencing: Just Because We Can, Should We?” The Hastings Center Report 42 (4): 28–40. https://doi.org/10.1002/hast.50.
  • Dunn, Michael, Mark Sheehan, Tony Hope, and Michael Parker. 2012. “Toward Methodological Innovation in Empirical Ethics Research.” Cambridge Quarterly of Healthcare Ethics: CQ: The International Journal of Healthcare Ethics Committees 21 (4): 466–480. https://doi.org/10.1017/S0963180112000242.
  • Enke, Benjamin. 2020. “What You See Is All There Is.” The Quarterly Journal of Economics 135 (3): 1363–1398. https://doi.org/10.1093/qje/qjaa012.
  • Farrell, Ruth M. 2013. “Symposium: Women and Prenatal Genetic Testing in the 21st Century.” Health Matrix (Cleveland, Ohio: 1991) 23 (1): 1–13.
  • Gabriel, Jazmine. 2017. “Zooming Out: Solidarity in the Moral Imagination of Genetic Counseling.” In Reproductive Ethics, edited by Lisa Campo-Engelstein and Paul Burcher, 7–25. Cham: Springer International Publishing. https://doi.org/10.1007/978-3-319-52630-0_2.
  • Gammon, B. L., S. A. Kraft, M. Michie, and M. Allyse. 2016. “‘I Think We’ve Got Too Many Tests!’: Prenatal Providers’ Reflections on Ethical and Clinical Challenges in the Practice Integration of Cell-Free DNA Screening.” Ethics, Medicine and Public Health 2 (3): 334–342. https://doi.org/10.1016/j.jemep.2016.07.006.
  • Hashiloni-Dolev, Yael, Tamar Nov-Klaiman, and Aviad Raz. 2019. “Pandora’s Pregnancy: NIPT, CMA, and Genome Sequencing—A New Era for Prenatal Genetic Testing.” Prenatal Diagnosis 39 (10): 859–865. https://doi.org/10.1002/pd.5495.
  • Hildt, Elisabeth. 2002. “Autonomy and Freedom of Choice in Prenatal Genetic Diagnosis.” Medicine, Health Care and Philosophy 5 (1): 65–72. https://doi.org/10.1023/A:1014262809712.
  • Hodgson, Jan, and Merle Spriggs. 2005. “A Practical Account of Autonomy: Why Genetic Counseling Is Especially Well Suited to the Facilitation of Informed Autonomous Decision Making.” Journal of Genetic Counseling 14 (2): 89–97. https://doi.org/10.1007/s10897-005-4067-x.
  • Holloway, Kelly, Nicole Simms, Robin Z. Hayeems, and Fiona A. Miller. 2022. “The Market in Noninvasive Prenatal Tests and the Message to Consumers: Exploring Responsibility.” The Hastings Center Report 52 (2): 49–57. https://doi.org/10.1002/hast.1329.
  • Hui, Lisa, and Jane Halliday. 2023. “A Decade of Non-Invasive Prenatal Screening in Australia: National Impact on Prenatal Screening and Diagnostic Testing.” Australian and New Zealand Journal of Obstetrics and Gynaecology 63 (2): 264–267. https://doi.org/10.1111/ajo.13638.
  • Hunt, Linda M., Katherine B. de Voogd, and Heide Castañeda. 2005. “The Routine and the Traumatic in Prenatal Genetic Diagnosis: Does Clinical Information Inform Patient Decision-Making?” Patient Education and Counseling 56 (3): 302–312. https://doi.org/10.1016/j.pec.2004.03.004.
  • Jackson, Emily. 2001. Regulating Reproduction: Law, Technology and Autonomy. London: Hart Publishing.
  • Johnson, J. David, Donald O. Case, James E. Andrews, and Suzanne L. Allard. 2005. “Genomics—the Perfect Information–Seeking Research Problem.” Journal of Health Communication 10 (4): 323–329. https://doi.org/10.1080/10810730590950048.
  • Johnston, Josephine, Ruth Farrell, and Erik Parens. 2017. “Supporting Women’s Autonomy in Prenatal Testing.” The New England Journal of Medicine 377 (6): 505–507. https://doi.org/10.1056/NEJMp1703425.
  • Kahneman, D. 2011. Thinking, Fast and Slow. New York, NY: Macmillan.
  • Kaposy, Chris. 2017. “Noninvasive Prenatal Whole-Genome Sequencing: A Solution in Search of a Problem.” The American Journal of Bioethics 17 (1): 42–44. https://doi.org/10.1080/15265161.2016.1251650.
  • Kaposy, Chris. 2023. “Prospects for Limiting Access to Prenatal Genetic Information about Down Syndrome in Light of the Expansion of Prenatal Genomics.” The New Bioethics 29 (3): 226–246. https://doi.org/10.1080/20502877.2022.2130720.
  • Katz Rothman, B. 1986. The Tentative Pregnancy: Prenatal Diagnosis and the Future of Motherhood. New York: Viking Penguin.
  • Knight, Amber, and Joshua Miller. 2021. “Prenatal Genetic Screening, Epistemic Justice, and Reproductive Autonomy.” Hypatia 36 (1): 1–21. https://doi.org/10.1017/hyp.2020.50.
  • Kringle-Baer, Kirsten M. 2017. “The Decision to Know: Pregnancy and Epistemic Harm.” In Reproductive Ethics, edited by Lisa Campo-Engelstein and Paul Burcher, 45–60. Cham: Springer International Publishing. https://doi.org/10.1007/978-3-319-52630-0_4.
  • Lewit-Mendes, Miranda F., Hazel Robson, Joanne Kelley, Justine Elliott, Erica Brown, Melody Menezes, and Alison D. Archibald. 2023. “Experiences of Receiving an Increased Chance of Sex Chromosome Aneuploidy Result from Non-Invasive Prenatal Testing in Australia: ‘A More Complicated Scenario than What I Had Ever Realized.’” Journal of Genetic Counseling 32 (1): 213–223. https://doi.org/10.1002/jgc4.1635.
  • Lippman, Abby. 1999. “Embodied Knowledge and Making Sense of Prenatal Diagnosis.” Journal of Genetic Counseling 8 (5): 255–274. https://doi.org/10.1023/A:1022901131305.
  • Löwy, Ilana. 2017. Imperfect Pregnancies: A History of Birth Defects and Prenatal Diagnosis. Baltimore, MD: Johns Hopkins University Press.
  • Löwy, Ilana. 2022. “Non-Invasive Prenatal Testing: A Diagnostic Innovation Shaped by Commercial Interests and the Regulation Conundrum.” Social Science & Medicine 304 (May): 113064. https://doi.org/10.1016/j.socscimed.2020.113064.
  • Manson, Neil C. 2006. “What Is Genetic Information, and Why Is It Significant? A Contextual, Contrastive, Approach.” Journal of Applied Philosophy 23 (1): 1–16. https://doi.org/10.1111/j.1468-5930.2006.00317.x.
  • Markens, Susan. 2013. “‘It Just Becomes Much More Complicated’: Genetic Counselors’ Views on Genetics and Prenatal Testing.” New Genetics and Society 32 (3): 302–321. https://doi.org/10.1080/14636778.2013.822174.
  • McCoyd, Judith L. M. 2010. “Authoritative Knowledge, the Technological Imperative and Women’s Responses to Prenatal Diagnostic Technologies.” Culture, Medicine, and Psychiatry 34 (4): 590–614. https://doi.org/10.1007/s11013-010-9189-4.
  • McKinn, Shannon, Nasrin Javid, Ainsley J. Newson, Lucinda Freeman, Carissa Bonner, Antonia W. Shand, Natasha Nassar, and Katy J. L. Bell. 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): 830–837. https://doi.org/10.1111/ajo.13533.
  • McLeod, Carolyn. 2002. Self-Trust and Reproductive Autonomy. Cambridge, MA: MIT Press.
  • McLeod, Carolyn, and Susan Sherwin. 2000. “Relational Autonomy, Self-Trust, and Health Care for Patients Who Are Oppressed.” In Relational Autonomy: Feminist Perspectives on Autonomy, Agency and the Social Self, edited by Carolyn McLeod, and Natalie Stoljar, 259–279. Oxford: Oxford University Press.
  • Merriam, Sharan B., and Elizabeth J. Tisdell. 2016. Qualitative Research: A Guide to Design and Implementation. 4th ed. San Fransisco: Jossey Bass, Wiley.
  • Mills, Catherine. 2015. “Resisting Biopolitics, Resisting Freedom: Prenatal Testing and Choice.” In Resisting Biopolitics: Philosophical, Political, and Performative Strategies, edited by S. E. Wilmer and Audronė Žukauskaitė, 121–134. London: Routledge.
  • Murdoch, Blake, Vardit Ravitsky, Ubaka Ogbogu, Sarah Ali-Khan, Gabrielle Bertier, Stanislav Birko, Tania Bubela, et al. 2017. “Non-Invasive Prenatal Testing and the Unveiling of an Impaired Translation Process.” Journal of Obstetrics and Gynaecology Canada 39 (1): 10–17. https://doi.org/10.1016/j.jogc.2016.09.004.
  • Nature. 2019. “Early Detection: Prospective Parents Should Be Prepared for a Surge in Genetic Data (Editorial)” Nature 565 (7741): 536–536. https://doi.org/10.1038/d41586-019-00331-6.
  • Navon, Daniel, and Gareth Thomas. 2021. “Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics.” OBM Genetics 5 (4): 140. https://doi.org/10.21926/obm.genet.2104140.
  • Noy, Chaim. 2008. “Sampling Knowledge: The Hermeneutics of Snowball Sampling in Qualitative Research.” International Journal of Social Research Methodology 11 (4): 327–344. https://doi.org/10.1080/13645570701401305.
  • Perrot, Adeline, and Ruth Horn. 2022. “Health Professionals and Scientists’ Views on Genome-Wide NIPT in the French Public Health System: Critical Analysis of the Ethical Issues Raised by Prenatal Genomics.” PLoS One 17 (11): e0277010. https://doi.org/10.1371/journal.pone.0277010.
  • Pös, Ondrej, Jaroslav Budiš, and Tomáš Szemes. 2019. “Recent Trends in Prenatal Genetic Screening and Testing.” F1000Research 8: F1000 Faculty Rev-764. https://doi.org/10.12688/f1000research.16837.1.
  • Ravitsky, Vardit, Francois Rousseau, and Anne-Marie Laberge. 2017. “Providing Unrestricted Access to Prenatal Testing Does Not Translate to Enhanced Autonomy.” The American Journal of Bioethics 17 (1): 39–41. https://doi.org/10.1080/15265161.2016.1251651.
  • Ravitsky, Vardit, Marie-Christine Roy, Hazar Haidar, Lidewij Henneman, John Marshall, Ainsley J. Newson, Olivia M.Y. Ngan, and Tamar Nov-Klaiman. 2021. “The Emergence and Global Spread of Noninvasive Prenatal Testing.” Annual Review of Genomics and Human Genetics 22 (1): 309–338. https://doi.org/10.1146/annurev-genom-083118-015053.
  • Richardson, Anastasia, and Kelly E. Ormond. 2018. “Ethical Considerations in Prenatal Testing: Genomic Testing and Medical Uncertainty.” Seminars in Fetal and Neonatal Medicine 23 (1): 1–6. https://doi.org/10.1016/j.siny.2017.10.001.
  • Rowley, Jennifer. 2007. “The Wisdom Hierarchy: Representations of the DIKW Hierarchy.” Journal of Information Science 33 (2): 163–180. https://doi.org/10.1177/0165551506070706.
  • Schmitz, Dagmar. 2013. “A New Era in Prenatal Testing: Are We Prepared?” Medicine, Health Care and Philosophy 16 (3): 357–364. https://doi.org/10.1007/s11019-012-9411-y.
  • Schmitz, Dagmar, and Wolfram Henn. 2022. “The Fetus in the Age of the Genome.” Human Genetics 141 (5): 1017–1026. https://doi.org/10.1007/s00439-021-02348-2.
  • Scully, Jackie Leach, Rouven Porz, and Christoph Rehmann-Sutter. 2007. “’You Don’t Make Genetic Test Decisions from One Day to the next’–Using Time to Preserve Moral Space.” Bioethics 21 (4): 208–217. https://doi.org/10.1111/j.1467-8519.2007.00546.x.
  • Seavilleklein, Victoria. 2009. “Challenging the Rhetoric of Choice in Prenatal Screening.” Bioethics 23 (1): 68–77. https://doi.org/10.1111/j.1467-8519.2008.00674.x.
  • Shkedi-Rafid, Shiri, Rachel Horton, and Anneke Lucassen. 2021. “What Is the Meaning of a ‘Genomic Result’ in the Context of Pregnancy?” European Journal of Human Genetics 29 (2): 225–230. https://doi.org/10.1038/s41431-020-00722-8.
  • Suter, Sonia M. 2018. “The Tyranny of Choice: Reproductive Selection in the Future.” Journal of Law and the Biosciences 5 (2): 262–300. https://doi.org/10.1093/jlb/lsy014.
  • Tymstra, T. 1989. “The Imperative Character of Medical Technology and the Meaning of ‘Anticipated Decision Regret.’.” International Journal of Technology Assessment in Health Care 5 (2): 207–213. https://doi.org/10.1017/s0266462300006437.
  • Van den Veyver, Ignatia B. 2016. “Recent Advances in Prenatal Genetic Screening and Testing.” F1000Research 5: 2591. https://doi.org/10.12688/f1000research.9215.1.
  • Werner-Lin, Allison, Judith L. M. Mccoyd, and Barbara A. Bernhardt. 2019. “Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable.” The Hastings Center Report 49 (Suppl 1 (May)): S61–S71. https://doi.org/10.1002/hast.1018.
  • Werner-Lin, Allison, Sarah Walser, Frances K. Barg, and Barbara A. Bernhardt. 2017. “‘They Can’t Find Anything Wrong with Him, Yet’: Mothers’ Experiences of Parenting an Infant with a Prenatally Diagnosed Copy Number Variant (CNV).” American Journal of Medical Genetics Part A 173 (2): 444–451. https://doi.org/10.1002/ajmg.a.38042.
  • Williams, Clare, Priscilla Alderson, and Bobbie Farsides. 2002. “Too Many Choices? Hospital and Community Staff Reflect on the Future of Prenatal Screening.” Social Science & Medicine 55 (5): 743–753. https://doi.org/10.1016/S0277-9536(01)00200-3.
  • Wise, Jacqui. 2022. “Non-Invasive Prenatal Screening Tests May Give False Results, Warns US Regulator.” BMJ 377: o1031. https://doi.org/10.1136/bmj.o1031.