“It just becomes much more complicated”: Genetic counselors' views on genetics and prenatal testing

Markens, Susan

doi:10.1080/14636778.2013.822174

Cited by 9 publications

(7 citation statements)

References 73 publications

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“…88 The lack of genetic counselors further exacerbates concerns that women will have difficulty understanding the risk estimates produced by NIPT, especially that NIPT is not diagnostic and that its sensitivity and specificity vary by condition. 78 , 89 – 91 There are also concerns that women will be less inclined to bond with their future child until they are assured that the fetus is “healthy”. 92 , 93 Some women feel that testing earlier in the pregnancy, and potentially terminating an affected pregnancy, may be easier emotionally because of the “less-intense emotional bond between mother and her unborn child”.…”

Section: Implementation In High-income Countriesmentioning

confidence: 99%

“…However, in the US, fewer and fewer physicians seek board certification in clinical genetics; in fact there are fewer certified annually today than 30 years ago. 91 Indeed, in states like Alaska, there are no medical geneticists at all, 95 raising concern about physicians’ capability to provide such guidance to patients.…”

Section: Implementation In High-income Countriesmentioning

confidence: 99%

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Non-invasive prenatal testing: a review of international implementation and challenges

Allyse

Minear

Berson

et al. 2015

IJWH

301

271

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Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.

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Section: Implementation In High-income Countriesmentioning

confidence: 99%

Section: Implementation In High-income Countriesmentioning

confidence: 99%

Non-invasive prenatal testing: a review of international implementation and challenges

Allyse

Minear

Berson

et al. 2015

IJWH

301

271

View full text Add to dashboard Cite

show abstract

“…This is exacerbated by a shortage of genetic counselors 18 and clinical geneticists. 35 The potential for misinterpretation of test results is a major concern with the coverage expansion of cfDNA screening to average risk pregnancies. These tests are not diagnostic tests, and false positives have been reported in the literature associated with placental mosaicism, maternal mosaicism, and vanishing twin.…”

Section: Discussionmentioning

confidence: 99%

Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening

Dervan

Deverka

Trosman

et al. 2017

Genetics in Medicine

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Purpose Cell-free DNA (cfDNA) prenatal screening tests have been rapidly adopted into clinical practice, in part due to positive insurance coverage. We evaluated the framework payers used in making coverage decisions to describe a process that should be informative for other sequencing tests. Methods We analyzed coverage policies from the 19 largest U.S. private payers with publicly available policies through February 2016, building from the UCSF TRANSPERS Payer Coverage Policy Registry. Results All payers studied cover cfDNA screening for detection of trisomies 21, 18 and 13 in high risk, singleton pregnancies, based on robust clinical validity (CV) studies and modeled evidence of clinical utility (CU). Payers typically evaluated the evidence for each chromosomal abnormality separately, although results are offered as part of a panel. Starting in August 2015, 8/19 payers also cover cfDNA screening in average risk pregnancies, citing recent CV studies and updated professional guidelines. Most payers attempted, but were unable to independently assess analytic validity (AV). Conclusion Payers utilized the standard evidentiary framework (AV/CV/CU) when evaluating cfDNA screening, but varied in their interpretation of the sufficiency of the evidence. Professional guidelines, large CV studies and decision analytic models regarding health outcomes appeared highly influential in coverage decisions.

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“…Rothman (1986) and Rapp (1987 , 1999 ) were pioneers in social science studies of praxis. Rothman's concept of “tentative pregnancy” led to later perspectives on PND, genetic counselling and risk assessment ( Heyman et al , 2006 ; Samerski, 2006 , 2009 ; Schwennesen et al , 2008 ; Schwennesen and Koch, 2009 ; Kato, 2009 ; Gupta, 2010 ; Ivry, 2010 ; Harris et al , 2013 ; Markens, 2013 ). Rapp showed how women in this field came to be constituted as moral pioneers.…”

Section: The Field Of Researchmentioning

confidence: 99%

“…Medicine's conception of ‘the patient's best interests' is replaced with information on the range of possible choices. Markens (2013) has interviewed genetic counsellors in the United States about their views on genetic testing, with a particular emphasis on prenatal testing. They generally have positive attitudes, underlining the ‘empowerment' of women, widening the range of choices and supporting ‘health management'.…”

mentioning

confidence: 99%

The decision: Relations to oneself, authority and vulnerability in the field of selective abortion

Risøy

Sirnes

2014

BioSocieties

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This article is about selective abortion. It concentrates on the existential, moral and social conditions that arise when pregnant women, using prenatal diagnosis (PND), are told that there is something seriously wrong with the foetuses that they are carrying. This is characterised as a micro state of emergency, where both normal cognitive categories and normative orders are dissolved. The analyses are anchored in the womens' own presentations and understandings of the processes and dilemmas related to the abortion decisions, and our most important empirical materials are interviews with women who have experienced them. Our main ambition is to show the relation between some important dimensions of the situation in which the abortion decision has to be made, and the special kind of authority on behalf of the women that presents itself. Of equal importance is the vulnerability of the pregnant women, resulting in a co-production of the women as both Sovereigns and Homo Sacer in the decision situation. We also analyse some of the experienced relations between the women and the foetuses, and how the women constitute themselves as moral subjects, with a particular emphasis on the motifs of sacrifice and self-sacrifice. It is a central argument in the article that we have to understand the specificity of the decision situation, without reducing it either to other phases (before or after) of the total processes of PND and selective abortion, or to general discourses of disability or normality. The specificity of the situation in which the abortion decision is made is a pivotal point in society's regulation (in a broad sense) of the field and in the constitution of the regime of selective abortion.

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“It just becomes much more complicated”: Genetic counselors' views on genetics and prenatal testing

Cited by 9 publications

References 73 publications

Non-invasive prenatal testing: a review of international implementation and challenges

Non-invasive prenatal testing: a review of international implementation and challenges

Payer decision making for next-generation sequencing–based genetic tests: insights from cell-free DNA prenatal screening

The decision: Relations to oneself, authority and vulnerability in the field of selective abortion

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