Argument against prenatal genetic screening

Opinion old Advantages Of Genetic Testing Outweigh Arguments Against Widespread Screening When genetic researchers successfully cloned the gene in which mutations cause cystic fibrosis, they also triggered a growing debate about under what circumstances and in what setting CF testing should be offered. To understand this debate, one needs some background on the history of carrier testing in the United States, a history with two strikingly different testing experiences, both of which are influencing plans for CF testing. The first experience dates to the early s, when about a d Jan 21, Philip Reilly When genetic researchers successfully cloned the gene in which mutations cause cystic fibrosis, they also triggered a growing debate about under what circumstances and in what setting CF testing should be offered.

Argument against prenatal genetic screening

Eur J Hum Genet. Published online Dec 2. Abstract This paper explores the ethical implications of introducing non-invasive prenatal diagnostic tests NIPD tests in prenatal screening for foetal abnormalities. NIPD tests are easy and safe and can be performed early in pregnancy.

In our view, however, the real moral challenge of NIPD testing consists in the possibility of linking up a technique with these features easy, safe and early with new genomic technologies that allow prenatal diagnostic testing for a much broader range of abnormalities than is the case in current procedures.

An increase in uptake and more selective abortions need not in itself be taken to signal a thoughtless acceptance of these procedures. However, combining this with considerably enlarging the scope of NIPD testing will indeed make informed consent more difficult and challenge the notion of prenatal screening as serving reproductive autonomy.

With regard to the controversial issue of selective abortion, it may make a morally relevant difference that after NIPD testing, abortion can be done early. A lower moral status may be attributed to the foetus at that moment, given the dominant opinion that the moral status of the foetus progressively increases with its development.

NIPD testing for the determination of a Y-signal for pregnancies at risk of X-linked disorders and for diagnosis of Rhesus factor status in RhD-negative women is now being translated into clinical practice. Even if accurate NIPD testing for the mentioned abnormalities becomes possible, the clinical utility of the test remains to be assessed.

This includes balancing the benefits to the harms also with regard to its psychological, ethical, legal, social and economic implications.

The Ethical Considerations of Genetic Screening

For one thing, proper counselling and informed consent is argued to become more challenging when offering NIPD testing. Moreover, there is a concern that the ease and safety of NIPD may lead to prenatal screening being increasingly conceived as a matter of course, both by those making the offer and by the women undergoing the test.

Argument against prenatal genetic screening

Related to this is the concern that selective abortion of foetuses with minor abnormalities, the wrong sex or unwanted paternity, will become normalized. This paper aims to expand and refine these ethical evaluations and will add some new ethical perspectives with regard to possible implications of NIPD at present Argument against prenatal genetic screening in the future.

In our view, it is not so much the fact that foetal material used for prenatal testing can be obtained early and non-invasively allowing easy and safe testing that would lead to moral challenges. Rather, it is the fact that a technology with these features would be open to being used for testing a potentially much broader range of abnormalities than those included in the presently used method of microscopic chromosome analysis karyotyping.

Although NIPD testing can also be applied in high genetic-risk families and for the management of pregnancy, the focus of this paper will primarily be on the application of NIPD testing in the screening context. The reason for this focus on prenatal screening is that in the near future, the question if, and if so, in what way NIPD testing is to be applied within prenatal screening strategies should be considered and discussed by policy makers, health care professionals and society at large.

To avoid confusion, a preliminary remark is needed on terminology. Current practice of prenatal screening Prenatal screening is widely accepted and is considered to be important to enable women and their partners to make informed reproductive choices.

These invasive procedures may induce a miscarriage in 0. If so, a diagnostic test, such as conventional karyotyping cytogenetic analysis or rapid aneuploidy detection DNA analysisis offered to confirm or exclude the presence of a chromosomal abnormality in the foetus.

Wright distinguishes five possible applications of NIPD testing in this context: In the ethical discussions thus far, NIPD testing as a substitution for the present combination of risk assessment and invasive diagnostic testing seems generally to be regarded as ultimately the most likely scenario.

Increasing number of prenatal diagnostic tests An important implication of NIPD testing as a one-step approach to prenatal screening is that prenatal diagnostic tests will be offered to all pregnant women, instead of to a limited high-risk group.

This increase in the number of diagnostic tests does not mean an increase in the extent of the actual group that is approached with an unsolicited prenatal test offer: Direct access to diagnostic testing has the advantage of avoiding false positive and false negative outcomes of risk assessment.

This means that all pregnant women can profit from the more certain diagnostic test results for reproductive decision making, which enhances their reproductive autonomy. But why would informed consent in such an approach still be more difficult?

The idea behind this concern may be that in two-step screening information about the challenges and possible outcomes of further testing need only be given to the small subset of women with a positive screen result, whereas all necessary information must be given at once in one-step screening.

However, this view is morally problematic, as it ignores that risk assessment is potentially a first step in a sequence of testing with exactly the same possible implications as one-step screening. However, a further assumption behind the concern about informed consent may be that introducing NIPD testing will be combined with enlarging the scope of prenatal screening.

As we will argue later on in this article that would indeed make informed consent more challenging. But the point we want to make here is that there is nothing in the nature of the NIPD test itself its one-step character that would lead to this greater challenge.

Of course, this is not to deny that in current practice information, counselling and consent are often inadequately dealt with 27282930 and this may also be the case with regard to NIPD testing. However, as long as NIPD testing will be offered for the same range of abnormalities as in the present two-step approach to prenatal screening, there is no reason to assume that these problems will be larger than they already are.

Argument against prenatal genetic screening

Normalization of the offer means that NIPD tests will be portrayed by clinicians and experienced by pregnant women as part of routine antenatal care, because, due to its ease and safety, it seems to be a rather trivial test to offer and take.

This may lead to normalization of uptake, ranging from a rather thoughtless uptake to women feeling socially pressurized to be tested.

This concern is reinforced by the finding that health care professionals seem inclined to the view that a less stringent standard of informed consent would suffice for NIPD testing.

We, therefore, agree that introducing NIPD testing should not be regarded as a reason for loosening present guidelines for informed consent.

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Types of Genetic Tests Performed During Pregnancy