Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process

Murdoch, Blake; Ravitsky, Vardit; Ogbogu, Ubaka; Ali‐Khan, Sarah E.; Bertier, Gabrielle; Birko, Stanislav; Bubela, Tania; Beer, Jeremy de; Dupras, Charles; Ellis, Meika; Moreno, Palmira Granados; Joly, Yann; Kamenova, Kalina; Master, Zubin; Marcon, Alessandro R.; Paulden, Mike; Rousseau, François; Caulfield, Timothy

doi:10.1016/j.jogc.2016.09.004

Cited by 21 publications

(12 citation statements)

References 68 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Therefore, NIPT will be regulated under the prenatal screening program and prescribed under specific conditions (for instance for women with high-risk pregnancies). Nevertheless, the literature shows concerns regarding NIPT development and dissemination through industry, leading to the test being marketed directly to clinicians, bypassing evidence-based and validation processes required for securing the quality assurance of the test [7,10,40].…”

Section: Discussionmentioning

confidence: 99%

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec

et al. 2020

Self Cite

View full text Add to dashboard Cite

Background:The clinical introduction of non-invasive prenatal testing for fetal aneuploidies is currently transforming the landscape of prenatal screening in many countries. Since it is noninvasive, safe and allows the early detection of abnormalities, NIPT expanded rapidly and the test is currently commercially available in most of the world. As NIPT is being introduced globally, its clinical implementation should consider various challenges, including the role of the surrounding social and cultural contexts. We conducted a qualitative study with healthcare professionals in Lebanon and Quebec as case studies, to highlight the relevance of cultural contexts and to explore the concerns that should be taken into account for an ethical implementation of NIPT.Methods: We conducted semi-structured interviews with 20 healthcare professionals (HCPs), 10 from each country, practicing in the field of prenatal screening and follow up diagnostic testing, including obstetricians and gynecologists, nurses, medical geneticists and, genetic counselors. We aimed to 1) explore HCPs' perceptions and views regarding issues raised by NIPT and 2) to shed light on ways in which the introduction of the same technology (NIPT) in two different contexts (Lebanon and Quebec) raises common and different challenges that are influenced by the cultural norms and legal policies in place. Results:We identified challenges to the ethical implementation of NIPT. Some are common to both contexts, including financial/economic, social, and organizational/ educational challenges. Others are specific to each context. For example, challenges for Lebanon include abortion policy and financial profit, and in Quebec challenges include lobbying by Disability rights associations and geographical access to NIPT.Conclusions: Our findings highlight the need to consider specific issues related to various cultural contexts when developing frameworks that can guide an ethically sound implementation of NIPT. Further, they show that healthcare professional education and training remain paramount in order to provide NIPT counseling in a way that supports pregnant women and couples' choice.

show abstract

Section: Discussionmentioning

confidence: 99%

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec

et al. 2020

Self Cite

View full text Add to dashboard Cite

show abstract

“…The ease and lack of risk of NIPT may lead women to feel less justified in saying no to testing, since there is no longer an “excuse” to decline it . Another major reason for its fast diffusion is the fact it is highly commercialized and often pushed forward direct‐to‐consumer (DTC), potentially bypassing traditional professional barriers. The commodification process Katz‐Rothman discussed in the 80s mostly in the sense of the view of the human body as yet another capitalist commodity is accelerating in the most simplistic economic sense of profit‐motivated companies, which are constantly taking a larger role in shaping the field of PND.…”

Section: Second Stage: Pandora's Pregnancymentioning

confidence: 99%

“…The ease and lack of risk of NIPT may lead women to feel less justified in saying no to testing, since there is no longer an "excuse" to decline it. 18 Another major reason for its fast diffusion is the fact it is highly commercialized 19 For many future parents, NIPT is reassuring, given the high performance of the test (especially in the detection of trisomy 21), ie, its lower rates of false-positive and false-negative results, compared with traditional biochemical screening tests. 20 Yet NIPT may still involve false-positives, which imply further testing, as well as false reassurance in the form of false-negatives (rates of FP and FN require clinical follow-up and therefore vary by research, location, product, and medical condition).…”

Section: Increasing the Variety Of Pndmentioning

confidence: 99%

Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing

2019

View full text Add to dashboard Cite

Objectives We delineate in this article a shift from the “traditional” technologies of karyotyping in PND to the current phase of advanced genetic technologies including noninvasive prenatal testing (NIPT), chromosomal microarray analysis (CMA), and whole‐exome sequencing (WES) with their higher detection rate and related abundance of uncertain data. Methods Conceptual analysis based on seminal works that shaped the socioethical discourse surrounding the experiences of parents as well as professionals with prenatal diagnosis in the last 30 years. Results We consider the implications of this new era of PND for patients and health professionals by drawing on previous studies documenting how probability and uncertainty affect informed consent/choice, health risks communication, customer satisfaction and decision making, and parent‐child bonding. Conclusions We argue that these changes move us beyond the idioms and realities of the tentative pregnancy and moral pioneering, to uncertainty, probability‐based counseling, and moral/translational gambling. We conclude by discussing what is needed to maintain hope in the era of Pandora's pregnancy.

show abstract

“…[7][8][9][10] Thus, it is important to empirically assess the ethical and societal acceptability of noninvasive prenatal testing's clinical implementation and coverage through public funding, to determine that they reflect the interests, needs and values of Canadians. 11 Such decisions should be based on robust evidence regarding costeffectiveness, 12 and on the views and preferences of stakeholders. 13 In addition, we argue that these decisions should be informed by the evolving perspectives of Canadian experts on ethical and societal issues related to prenatal testing and…”

mentioning

confidence: 99%

Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study

Dupras

Birko

Affdal

et al. 2018

cmajo

Self Cite

View full text Add to dashboard Cite

Background: Noninvasive prenatal testing is a recent technology that provides some genetic information about the fetus through the analysis of cell-free fetal DNA circulating in maternal blood. We aimed to identify the benefits, challenges and guiding ethical principles most relevant to the clinical integration of noninvasive prenatal testing in Canada, according to experts throughout the country. Methods: We conducted a 3-round Delphi study involving Canadian experts of contemporary discussions about the ethical and societal implications of prenatal testing and genomic technologies. In round 1, we asked participants to identify clinical benefits and challenges related to the implementation of noninvasive prenatal testing in Canada, and the ethical principles they think should guide it. In round 2, we asked participants to select the most important elements stated by their peers. In round 3, participants were informed of the aggregated results from round 2, and invited to revise or confirm their selection. Results: Round 1 had a participation rate of 20.2%, and involved 61 participants. Subsequent rounds 2 and 3 had retention rates of 95.1% (n = 58) and 84.5% (n = 49), respectively. Through these discussions, we identified 3 lists of benefits (n = 10), challenges (n = 27), and ethical principles (n = 16) prioritized by Canadian experts as being most relevant to the implementation of noninvasive prenatal testing in Canada. Interpretation: Although multiple and diverse potential issues were identified, Canadian experts agreed on 2 sets of requirements for the responsible implementation of noninvasive prenatal testing in Canada. Interdisciplinary appraisals may be instrumental to responsible policy-making related to the implementation of noninvasive prenatal testing in Canada.

show abstract

Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process

Cited by 21 publications

References 68 publications

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals’ views from Lebanon and Quebec

Pandora's pregnancy: NIPT, CMA, and genome sequencing—A new era for prenatal genetic testing

Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study

Contact Info

Product

Resources

About