Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum

Löwy, Ilana

doi:10.1016/j.socscimed.2020.113064

Cited by 23 publications

(33 citation statements)

References 59 publications

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“…Outside of the US, there are estimations that the global market for NIPT will reach over $5 billion by 2028 [19]. Many of the pertinent professional organizations like the American College of Medical Genetics and Genomics (ACMG), the American College of Obstetricians and Gynecologists (ACOG), and the National Society of Genetic Counselors (NSGC) now recommend offering NIPT screening to all pregnant women, regardless of age or other risk factors [20], creating potential liability issues for providers who refuse coverage. As a result, payers are increasingly likely to cover NIPT screens.…”

Section: Screening Fetuses' Genesmentioning

confidence: 99%

“…Many insurance companies in the US also limit coverage in a similar manner. However, the clear trend among commercial offerings (including in the UK's private sector) is to offer prospective parents-as consumers-screening results for more and more mutations as a marketable commodity (see Löwy [20] for a review of the different national regulatory and commercial landscapes for NIPT).…”

Section: Screening Fetuses' Genesmentioning

confidence: 99%

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Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Navon¹,

Thomas²

2021

obm genet

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In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screening for poorly understood genetic anomalies and disorders, and explain how it limits our understanding of their penetrance and variability. Next, we contrast the strong restrictions and regulations around newborn screening with the more laissez-faire framework for prenatal screening, using the rollout of non-invasive prenatal testing (NIPT) as the timeliest and most illuminating example. We show how new conditions are added to NIPT kits based on technological feasibility and profit motive, leading to widespread prenatal screening for incompletely understood genetic disorders. Finally, we explore the myriad dilemmas that ‘screening before we know’ creates for counsellors, caregivers, and prospective parents in the age of non-invasive prenatal genetic screening, and argue for an approach that openly embraces the radical uncertainties we face.

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Section: Screening Fetuses' Genesmentioning

confidence: 99%

Section: Screening Fetuses' Genesmentioning

confidence: 99%

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Navon¹,

Thomas²

2021

obm genet

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“……the most reliable way of non-invasively assessing a baby's health… (https://www.natera.com/womens-health/panorama-nipt-prenatal-screening/patients/, accessed Commercial laboratories have recognized that prenatal testing can be a significant source of revenue [87,88]. By one estimate, the worldwide market for NIPT is expected to be at least eleven billion dollars (US) by the year 2030 [89].…”

Section: Reassurance About the Health Of The Fetusmentioning

confidence: 99%

Prenatal Testing – What Is It Good For? A Review and Critique

Resta¹

2021

obm genet

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The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing parents to avoid raising a child with disabilities, preventing the suffering associated with chromosomal and genetic disorders, emotional reassurance about the health of the baby, and medical and emotional preparation for the birth of a baby with a disability. Each of these goals has problematic aspects, as do some of the criticisms of these goals. The most striking shortcoming of the justifications for prenatal testing is a dearth of research about potential medical, psychological, or adaptational benefits of prenatal testing, especially for aneuploidy, for babies and families, beyond the option of pregnancy termination.

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“…Non-invasive prenatal testing (NIPT) is a newly developed genetic test designed to detect chromosomal anomalies in fetuses. Since its launch in 2011, NIPT has been commercially available in many countries [1], which is mainly due to the driving force of biotechnology companies manufacturing these tests [2,3]. These companies have applied for patents in various countries [4].…”

Section: Introductionmentioning

confidence: 99%

“…In some countries, such as Brazil, extended versions of this test are available only at private health facilities, thereby limiting its use to women who can afford it out of their own pockets [3]. However, in some other countries, the test is paid for by private or public insurers, who may choose to restrict its use to the detection of certain pathologies among categories of pregnant women at higher risk of fetal anomalies [1,6].…”

Section: Introductionmentioning

confidence: 99%

The Regulation of Non-Invasive Prenatal Testing (NIPT) in France: Continuity and Changes in the Development of Prenatal Testing

Vassy¹,

Brunet²,

Noiville³

2021

OBM Genet

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This article examines the regulation of the screening of fetal abnormalities in France before and after the implementation of the new technique of non-invasive prenatal testing (NIPT) in 2013. In addition, this article evaluates the effectiveness of the regulatory framework in addressing the ethical and social issues raised by this technique from a legal and sociological perspective. The analysis reveals that the regulations, consistent with that applied to other prenatal screening techniques, fail to take proper account of the following problems posed by NIPT: the continuing increase in the number of abnormalities detected in fetuses, the context of mounting pressure from the manufacturers, and the challenges involved in providing pregnant women with quality information that preserves their reproductive autonomy.

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Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum

Cited by 23 publications

References 59 publications

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Prenatal Testing – What Is It Good For? A Review and Critique

The Regulation of Non-Invasive Prenatal Testing (NIPT) in France: Continuity and Changes in the Development of Prenatal Testing

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