Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions

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Abstract

Background

Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women’s social and ethical values. We approach the need for ethical policy-making by studying the use of NIPT and emerging policy in the province of Ontario, Canada.

Methods

Using an adapted version of constructivist grounded theory, we conducted interviews with 38 women who have had personal experiences with NIPT. We used an iterative process of data collection and analysis and a staged coding strategy to conduct a descriptive analysis of ethics issues identified implicitly and explicitly by women who have been affected by this technology.

Results

The findings of this paper focus on current ethical issues for women seeking NIPT, including place in the prenatal pathway, health care provider counselling about the test, industry influence on the diffusion of NIPT, consequences of availability of test results. Other issues gain relevance in the context of future policy decisions regarding NIPT, including funding of NIPT and principles that may govern the expansion of the scope of NIPT. These findings are not an exhaustive list of all the potential ethical issues related to NIPT, but rather a representation of the issues which concern women who have personal experience with this test.

Conclusions

Women who have had personal experience with NIPT have concerns and priorities which sometimes contrast dramatically with the theoretical ethics literature. These findings suggest the importance of engaging patients in ethical deliberation about morally complex technologies, and point to the need for more deliberative patient engagement work in this area.

Electronic supplementary material

The online version of this article (10.1186/s12910-018-0267-4) contains supplementary material, which is available to authorized users.

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Most cited references 49

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Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

Mary E. Norton, Herb Brar, Jonathan Weiss … (2012)

We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of an aneuploidy risk (High Risk or Low Risk) for each subject. Of the 81 T21 cases, all were classified as High Risk for T21 and there was 1 false-positive result among the 2888 normal cases, for a sensitivity of 100% (95% confidence interval [CI], 95.5-100%) and a false-positive rate of 0.03% (95% CI, 0.002-0.20%). Of the 38 T18 cases, 37 were classified as High Risk and there were 2 false-positive results among the 2888 normal cases, for a sensitivity of 97.4% (95% CI, 86.5-99.9%) and a false-positive rate of 0.07% (95% CI, 0.02-0.25%). Chromosome-selective sequencing of cell-free DNA and application of an individualized risk algorithm is effective in the detection of fetal T21 and T18. Copyright © 2012 Mosby, Inc. All rights reserved.

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ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

Anthony Gregg, S. J. Gross, R Best … (2013)

Noninvasive assessment of the fetal genome is now possible using next-generation sequencing technologies. The isolation of fetal DNA fragments from maternal circulation in sufficient quantity and sizes, together with proprietary bioinformatics tools, now allows patients the option of noninvasive fetal aneuploidy screening. However, obstetric care providers must become familiar with the advantages and disadvantages of the utilization of this approach as analysis of cell-free fetal DNA moves into clinical practice. Once informed, clinicians can provide efficient pretest and posttest counseling with the goal of avoiding patient harm. It is in the public's best interest that test results contain key elements and that laboratories adhere to established quality control and proficiency testing standards. The analysis of cell-free fetal DNA in maternal circulation for fetal aneuploidy screening is likely the first of major steps toward the eventual application of whole fetal genome/whole fetal exome sequencing.

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Patients' perspectives in health technology assessment: a route to robust evidence and fair deliberation.

Karen Facey, Antoine Boivin, Javier Gracia … (2010)

There is increasing emphasis on providing patient-focused health care and ensuring patient involvement in the design of health services. As health technology assessment (HTA) is meant to be a multidisciplinary, wide-ranging policy analysis that informs decision making, it would be expected that patients' views should be incorporated into the assessment. However, HTA is still driven by collection of quantitative evidence to determine the clinical and cost effectiveness of a health technology. Patients' perspectives about their illness and the technology are rarely included, perhaps because they are seen as anecdotal, biased views. There are two distinct but complementary ways in which HTAs can be strengthened by: (i) gathering robust evidence about the patients' perspectives, and (ii) ensuring effective engagement of patients in the HTA process from scoping, through evidence gathering, assessment of value, development of recommendations and dissemination of findings. Robust evidence eliciting patients' perspectives can be obtained through social science research that is well conducted, critically appraised and carefully reported, either through meta-synthesis of existing studies or new primary research. Engagement with patients can occur at several levels and we propose that HTA should seek to support effective patient participation to create a fair deliberative process. This should allow two-way flow of information, so that the views of patients are obtained in a supportive way and fed into decision-making processes in a transparent manner.

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Author and article information

Contributors

Meredith Vanstone:

ORCID: http://orcid.org/0000-0002-7347-6259

Meredith.vanstone@mcmaster.ca

Alexandra Cernat: cernata@mcmaster.ca

Jeff Nisker: jeff.nisker@lhsc.on.ca

Lisa Schwartz: schwar@mcmaster.ca

Journal

Journal ID (nlm-ta): BMC Med Ethics

Journal ID (iso-abbrev): BMC Med Ethics

Title: BMC Medical Ethics

Publisher: BioMed Central (London )

ISSN (Electronic): 1472-6939

Publication date (Electronic): 16 April 2018

Publication date PMC-release: 16 April 2018

Publication date Collection: 2018

Volume: 19

Electronic Location Identifier: 27

Affiliations

[1 ]ISNI 0000 0004 1936 8227, GRID grid.25073.33, Department of Family Medicine, , McMaster University, ; DBHSC 5003E, 100 Main St W, Hamilton, ON L8P 1H6 Canada

[2 ]ISNI 0000 0004 1936 8227, GRID grid.25073.33, Centre for Health Economics and Policy Analysis, , McMaster University, ; Hamilton, ON Canada

[3 ]ISNI 0000 0004 1936 8227, GRID grid.25073.33, Life Sciences Program, , McMaster University, ; Hamilton, ON Canada

[4 ]ISNI 0000 0004 1936 8884, GRID grid.39381.30, Department of Obstetrics and Gynecology, , Western University, ; London, ON Canada

[5 ]GRID grid.413953.9, Children’s Health Research Institute, ; London, ON Canada

[6 ]ISNI 0000 0004 1936 8227, GRID grid.25073.33, Department of Health Research Methods, Evidence and Impact, , McMaster University, ; Hamilton, ON Canada

Author information

Meredith Vanstone http://orcid.org/0000-0002-7347-6259

Article

Publisher ID: 267

DOI: 10.1186/s12910-018-0267-4

PMC ID: 5902938

PubMed ID: 29661182

SO-VID: c027aafa-76c5-4934-8d14-86ef970da4c2

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 16 October 2017

Date accepted : 8 April 2018

Funding

Funded by: Canadian Institutes of Health Research (CA)

Award ID: 136734

Award Recipient : Meredith Vanstone

Funded by: FundRef http://dx.doi.org/10.13039/501100000226, Ontario Ministry of Health and Long-Term Care;

Award ID: Harnessing Evidence and Values for Health System Excellence

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ScienceOpen disciplines: Medicine

Keywords: non-invasive prenatal testing,prenatal screening,qualitative research,ethics,health policy,patient engagement

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ScienceOpen disciplines: Medicine

Keywords: non-invasive prenatal testing, prenatal screening, qualitative research, ethics, health policy, patient engagement

Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions

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Climate Change and Human Health

Most cited references 49

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

Patients' perspectives in health technology assessment: a route to robust evidence and fair deliberation.

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