1

Non-invasive prenatal genetic testing: A study of public

attitudes

Susan E. Kelly* and Hannah R. Farrimond

ESRC Centre for Genomics in Society (Egenis)

University of Exeter

POSTPRINT: PUBLISHED IN PUBLIC HEALTH GENOMICS

Citation: Kelly, S.E. & Farrimond, H.R. (2012) Non-invasive prenatal genetic testing: A

study of public attitudes. Public Health Genomics, 15 (2): 73-81.

Key Words: Non-invasive prenatal diagnosis, public attitudes, Q methodology, antenatal

screening

*Corresponding author:

Susan E. Kelly

Senior Research Fellow

Egenis

University of Exeter

Byrne House

St. German’s Road

Exeter

Devon EX4 4PJ

S.E.Kelly@exeter.ac.uk

Telephone: +44 (0)1392 269140

Fax: +44 (0)1392 264676

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Abstract

Background/Objectives

Non-invasive prenatal genetic diagnostic (NIPD) tests are being developed using cell-free

fetal DNA in the maternal circulation. NIPD tests avoid or reduce the need for invasive

diagnostic procedures for conditions like Down syndrome. Discussion of ethical and

social implications of these techniques is increasing. We report findings from a study of

public attitudes relevant to the introduction of NIPD. A key aim was to examine the range

of attitudes relevant to NIPD within a diverse sample.

Methods

Qualitative analysis of written free text ‘first responses’ to a written neutral description of

NIPD as part of a Q-methodology study conducted with a purposive sample of the UK

population (N=71).

Results

The majority (63%) of respondents described their first response as positive. However,

respondents displayed ambivalence, expressing positive views of individual/medical

rationale for NIPD and unease concerning public health rationale and societal

implications. Unease related to eugenic reasoning underlying existing prenatal testing,

‘too much control’ in reproduction, commercial provision, information and support

requirements for expanded testing, and limiting the use of testing.

Conclusions

These findings suggest that regulating and monitoring commercial provision of NIPD

services, and monitoring introduction and clinical use, are a public preference.

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Introduction

Technologies for performing non-invasive prenatal diagnosis (NIPD) utilizing cell free

fetal DNA have been under development since 1997 [1]. Several approaches, particularly

for fetal chromosomal abnormalities such as Down Syndrome, are in clinical trials and

nearing clinical availability. Discussion of broader application of these techniques in

many countries is taking place and can be expected to increase [2]. NIPD is anticipated to

raise a number of ethical and social concerns, including those associated with existing

prenatal diagnostic practices as well as concerns raised by the specific characteristics of

NIPD technologies currently or in the foreseeable future. This paper reports results from

a study of public attitudes relevant to the introduction of NIPD technologies, conducted

in the United Kingdom where prenatal testing regimes are well established aspects of

antenatal care. Qualitative analysis of written ‘first responses’ to a brief, neutral

description of NIPD, elicited as part of a Q methodology study, is discussed in light of

the developing ethical and social implications literature on NIPD.

Background

Current prenatal testing regimes for aneuploidies and some other conditions involve

multiple screening procedures that progressively identify pregnancies deemed to be at

sufficiently high risk to warrant the offer of diagnostic testing of fetal DNA [3]. The

current most widely used methods for obtaining a fetal sample for prenatal diagnosis are

amniocentesis and chorionic villus sampling, both of which carry a small risk of

miscarriage.1 These risks may factor into the decision making of some women and their

partners considering diagnostic testing, and play a role in the clinical management of

some conditions. Screening tests offered in the first and second trimesters of pregnancy,

alone or in association with an ultrasound scan, do not carry this risk [4] [5]. The

distinction between screening and diagnostic testing, and their connection to different

levels of ‘invasiveness’ and risk, have been defining features of antenatal care and

associated testing for several decades. Therefore, NIPD promises to alter many of the

assumptions, practices and experiences of prenatal testing, by providing definitive

1 A loss rate of 1 in 200 from amniocentesis is based on recommendations by the Centers for Disease

Control and Prevention (CDC) and endorsed by the American College of Obstetricians and

Gynecologists (ACOG), both in the USA.

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chromosomal or molecular information about the fetus without presenting a risk to the

pregnancy.

Current approaches to NIPD utilise cell free fetal ribonucleic acids (cffDNA and

cffRNA) in a sample of maternal blood to diagnosis a limited range of conditions [6].

CffDNA and cffRNA can be detected as early as four weeks gestation, and reliably from

7 weeks [7] [8]. Three possible applications or scenarios of cffDNA/RNA NIPD are

projected:

Targeted diagnostic use to reduce the need for invasive testing in at risk

pregnancies, and to improve clinical management – e.g., NIPD is in limited

clinical use for fetal Rhesus D blood type and inherited sex-linked genetic

disorders [8]. The possibility is raised of extension to most single gene disorders

[9].

In conjunction with or as replacement for current multi-stage screening pathways.

A significant focus of NIPD development efforts is a single non-invasive

diagnostic step for fetal aneuploidies such as Down Syndrome [8], raising the

possibility of wider application of diagnosis for these conditions.

As commercial services offered directly to the consumer in standalone clinics,

over the counter, or over the internet. Commercial, direct-to-consumer products

using cffDNA techniques are currently available to test prenatally for paternity

and fetal sex.

Research on public attitudes relevant to NIPD

The limited social science research on NIPD published to date has focused primarily on

the acceptability of non-invasive testing to pregnant women. A survey of the preferences

of high-risk women undergoing invasive testing found that almost all would request

confirmatory invasive testing following an abnormal result from an NIPD blood test [10].

Roughly half would seek invasive testing following a normal non-invasive testing result.

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Overall, the authors concluded that women having invasive diagnostic testing welcome a

non-invasive procedure, and that its availability (as part of a multi-step testing pathway)

would decrease invasive testing by approximately 50%.

Public attitudes toward reproductive genetic testing for health purposes have been found

to be broadly positive, in the few public attitude studies reported. A public consultation

in the UK in 2004-2005 found qualified support for expanding prenatal screening

programmes. Concerns included that newly added conditions be ‘serious’ or ‘severe’,

have known or clear forms of inheritance, or be conditions for which no treatment is

available [11]. In the USA, an attitude survey found a generally positive response to

reproductive genetic testing for health related purposes while, overall, public attitudes

were complex and nuanced [12]. Singer [13], in a telephone survey conducted in the

USA found that attitudes toward prenatal testing were overwhelmingly favorable, with

about two thirds of the respondents saying they would want to undergo such tests

themselves (or would want their partner to do so) and believing that the tests will do more

good than harm. However, information about reproductive genetic testing was not widely

dispersed in society, and attitudes toward testing for genetic defects, and attitudes toward

abortion if tests are positive, appeared to be quite distinct. Over time, Singer has found

decreasingly favourable public attitudes in the USA toward selective abortion in case of a

genetic defect [14].

We are not aware of any published empirical research on public attitudes toward the

introduction of NIPD. However, NIPD is now at a stage of development, including

increasing media reporting of early clinical trial results, to suggest that research into

relevant public attitudes is timely. While the few studies conducted on public attitudes

toward prenatal testing to date indicate societal support for current practices, they also

indicate that public attitudes are complex, nuanced, and potentially contradictory (see

15).

Q methodology study on public attitudes relevant to NIPD

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This paper reports the results of qualitative analysis of study participants’ written ‘first

responses’ to NIPD after reading a short factual introduction to the topic. These were

obtained in the context of a Q methodology study of public attitudes relevant to NIPD2

[16]. The overall aim of the study was to identify the range of viewpoints on NIPD

amongst a sample of the UK public with a diversity of experiences and demographic

characteristics. Q methodology was chosen for this study as it fits with a social

constructionist perspective that a multiplicity of discourses, sometimes conflicting, is

available in any culture from which understanding of new technologies or subjective

experience of health, illness and health care, can be reached [17] [18] [19]. Q

methodology is a useful method through which to investigate public responses to

emerging technologies, particularly as it does not ask for responses to hypothetical

scenarios [20]. It is also useful for researching public discourses concerning controversial

or sensitive topics, as it can be conducted by post (as here), allowing the participant to

consider and respond without the need for immediate social interaction with a researcher

[21]. Q methodology has advantages over qualitative interviews which, although more

naturalistic, are limited where participants have little knowledge of or experience with a

technology. Q methodology has had a resurgence of use in health and illness research

[18] [19] [21] [22] [23] [24] [25].

Q methodology combines factor analysis with qualitative interpretation to identify a set

of common ‘viewpoints’ amongst a sample (for detailed descriptions of Q methodology

see [26]). Respondents are asked to sort, or rank, statements on or relevant to a topic on

the basis of the extent to which they agree, disagree or feel neutral about them.

Quantitative analysis of these sorts is conducted to identify a set of statistically separate

‘accounts’, while interpretation is aided by analysis of written, qualitative responses

Results of our Q sort analysis of attitudes toward NIPD are reported elsewhere [16].

For this study, we included a pre-sorting step to provide respondents an introduction to

NIPD. This constituted a brief, neutral paragraph describing NIPD technologies, located

2 ESRC Study: ‘Is easier always better?: investigating public attitudes towards non-

invasive prenatal technologies’ Initiated January 2009.

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at the front of the Q booklet. We undertook a pilot test of the description to ensure it was

not leading or biased, and was easily understandable. The description did not identify

ethical or societal issues, but focused solely on key characteristics of emerging tests (i.e.,

blood test, performed early in pregnancy, diagnostic accuracy, avoids the physical risks

of invasive procedures, could open the possibility of testing for a wider range of

conditions, may be available as a commercial service). Immediately following this

description was a free text space in which participants were asked to provide a written

‘first response’. This process was also pilot tested. All respondents provided a written

first response to the NIPD description.

Our objective in soliciting ‘first responses’ to the topic of NIPD was two-fold. Firstly,

participants needed to be introduced to technological parameters of NIPD so that they

had enough information to make informed judgements about the social, ethical and other

issues as required in the Q-sorting task. Secondly, we aimed to understand what the

participants themselves perceived as the key benefits and concerns of NIPD when first

presented with the options. First response data can indicate what participants find salient

from among the multiple attitudes they hold relevant to the topic [27] or, put differently,

elicit the salient social schema(s) through which they understand a topic (e.g., [28]). First

responses thus represent what respondents themselves bring to understanding of an issue

outside of elicitation effects from an interviewer or the Q sort process.

Respondents were sent the research materials by post and completed the tasks on their

own. Separate interviews were not conducted.

We conducted a thematic analysis of these written first responses (N=71). Each author

conducted a thematic analysis separately; these were combined for re-analysis, from

which the final thematic scheme emerged. Representative quotes from these written

responses are included to illustrate the themes.

Sample

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The aim of this study was to investigate public understandings of NIPD both among those

often selected in study samples (e.g., pregnant women and their partners, those in high

risk pregnancies) but also among those who are not (men, those without children, a broad

age range, those with little experience of genetic disorders or disabilities). Therefore, we

sought a diverse sample using a purposive sampling strategy (see [29]). Inclusion criteria

were UK individuals aged 18 and 60 of both genders. Participants were recruited via a

range of media sources from the South West of the UK. Participants were given a £15

voucher upon completion of the study booklet.

Ninety-seven participants responded to the initial invitation to take part and were sent

study packs. Seventy-one completed packs were returned in total (73% response rate). A

demographic profile of the participants is found in Table 1.

The study was approved by the Humanities and Social Science Ethics Committee at the

University of Exeter.

Findings

First response – positive or negative

We initially coded each response as positive or negative (and respondents frequently used

this language). The majority (45 or 63%) of first responses was positive concerning

NIPD. However, nearly half (23) of these contained a caveat after the initial positive

response. For example:

The pluses are it would present less risk to the foetus (e.g., the trauma of invasive

testing & anxiety for pregnant women). However the administration of testing

would need to be carefully devised to prevent abuse. A plethora of bio-ethical

issues are present. (Female, 37 years old, one child, familial and work experience

with disability, speech therapist)

Five responses were explicitly ambivalent, as in the following examples:

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My immediate thought is that I feel very much divided on this subject. In terms of

science this is a huge step forward, but then the moral implications of this are

equally significant. (Male, 33 years old, no children, no experience of genetic

conditions or disability, academic administrative staff)

NIPD has to be beneficial if it helps parents to know of problems that could occur.

But I am concerned that tests would become to (sic) easily ‘in use’ and used

unnecessarily. (Female, 48, 3 children, looking after home/family)

Twenty-one responses focused only on negative issues and concerns with the technology.

The easier & more reliable tests become, the more society will adopt a ‘why

weren’t you terminated?’ attitude to disabled people & their parents (especially

their mothers). Why is the medical profession trying so hard to eliminate

individuals with Down Syndrome? (Female, 55 years old, three children, familial

experience with genetic conditions and disability, looking after home/family)

Key Themes

Challenge to ‘public health’ rationale for prenatal screening and testing programmes

and support for individual/medical rationale

This theme encompasses responses we coded as challenging the public health rationale

underlying prenatal testing programmes. Responses in this theme did not represent NIPD

as raising new social and ethical questions, but as extending or exacerbating concerns

with existing practices. Challenges to the public health rationale fell into two primary

categories: those reflecting a disability critique (what one respondent termed ‘fatal

discrimination against the disabled’), and those reflecting unease over the notion of

‘choosing’ children (as one respondent put it, ‘this amount of choice is going down the

wrong path societally’). These responses suggest that unease exists in public attitudes

concerning the public health rationale and societal implications of prenatal screening

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programmes, and of their expansion. Respondents expressing this theme varied in terms

of experiences with disability and having children.

The following quotes are representative of this theme:

There are already groups in society – both medical & lay persons who presently

regard current pre-natal screening as a method of reducing the incidence of all

disability, therefore promoting attitudes towards perfection. I fear that, in general,

NIPD will exacerbate this attitude. (Female, 54 years old, no children, familial

and work-related experience with genetic conditions and disability, teacher of the

deaf )

Clearly it’s better to have non-invasive testing as invasive testing has its own

risks. But – how far are we willing to go along the lines of testing and deciding

who has the right to be born? (Male, 66 years old, 4 children and partner

pregnant, no experience of genetic conditions or disability, manufacturing

manager)

It will, and should, open up much moral debate, particularly around abortion and

eugenics. (Female, 36 years old, no children, no experience of genetic conditions

or disability, nurse)

Nonetheless, there was considerable support for what might be termed medical/individual

rationale for prenatal screening and testing programmes. Many respondents expressed

seeing the value of prospective parents including prenatal screening decisions in seeking

healthy outcomes for their offspring. Specifically, respondents mentioned that earlier

testing is a benefit, as it should promote easier decision making and, particularly, give

prospective parents ‘more time to prepare’ for an indentified outcome.

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‘Safer’ testing was identified as a particular benefit. Significantly, and in contrast to the

above representations of challenges to societal implications of expanded testing, many

respondents included the view that ‘expectant parents should have choice’.

I think they are a good idea if it makes it easier and safer for the woman and baby.

Accuracy is important so I think it’s a good idea. (Male, 34 years old, one child,

no experience of genetic conditions or disability, computer programmer)

I think non-invasive prenatal testing is a very positive step forward. Invasive tests

may put the baby at risk & therefore many women may decide against it –

whereas most will be happy with blood tests. (Female, 64 years old, two children,

familial experience with a genetic condition, retired school teacher)

However, an exception to the positive view of the individual level medical benefits of

NIPD was concern about increased anxiety associated with NIPD procedures. The

following quotes exemplify this response, suggesting that while public attitudes toward

testing outcomes and rationale are generally positive, the process of testing and the

decisions involved are understood to be difficult.

Regardless of the advantages (safety, accessibility, etc.) these tests will still create

stress through anxiety and apprehension and the necessity of making decisions.

(Female, 55 years old, three children, familial experience with genetic conditions

and disability, looking after home/family)

I’m a bit uneasy about the idea – when my wife was pregnant, I wasn’t crazy

about the tests we had, not so much because of the risks, but because of not

knowing what I’d do with the information if tests came back with difficult results.

(Male, 30, one child, no experience with genetic conditions or disability, part-

time school teacher)

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Generally better than the poorly understood risk options currently available, but I

am slightly uneasy that too much testing causes a lot of anxiety and puts pressure

on people to test and act on the tests. (Female, 35 years old, one child, some

experience of genetic conditions, looking after home/family)

I think it will lead to added anxiety in pregnancy and to women having more

abortions. (Male, 48, familial experience of autism, unemployed mail deliverer)

Concern about commercial availability of NIPD services

Many responses reflected concern about the implications of commercial availability of

NIPD testing. A number of respondents worried about NIPD offered in a commercial

setting without ‘appropriate advice and guidance’, particularly ‘as the range of tests

increases’. In particular, it was perceived that commercially provided services would

allow for ‘misuse’ (primarily defined as testing for ‘trivial or vague’ reasons) and there

was strong concern about monitoring, medical oversight, and support. For example:

Any testing which avoids physical risks to the foetus and which can be carried out

earlier in the pregnancy can only be beneficial as long as the results are accurate. I

would feel happier for the testing to be carried out by a health professional as

opposed to the consumer to be sure it was done correctly and any worrying results

investigated by the health professionals using their knowledge and expertise.

(Female, 46, three children, no experience of genetic conditions or disability,

teaching assistant)

The possibilities sound very positive; but some concerns about possible

misuses/abuses in the commercial sphere – e.g. insurance companies

granting/denying cover on the basis of test results. (Male, 54, three children,

familial experience with a genetic condition, publisher)

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It’s a good thing but must be supported with proper counseling & medical &

emotional care afterwards. (Female, 41 years old, three children, some experience

of genetic conditions, university lecturer)

Positive overall but concerned that people will be able to obtain results in a

commercial environment without appropriate advice and guidance available.

(Male, 59, two children, familial experience with a disability, IT consultant)

Ambivalence

As the above discussions indicate, ambivalence constituted a strong theme throughout the

responses. While many saw benefits for pregnant women and families, there was

expression of fear that NIPD will exacerbate societal attitudes perceived to be associated

with current prenatal screening, particularly promoting attitudes toward ‘perfection’ in

reproduction. A number of respondents also expressed that decisions associated with

current prenatal testing programmes are difficult, and perhaps currently not adequately

supported.

I think it’s good to be able to test for disabilities as some parents won’t be able to

deal with them and their child will have a poor quality of life, but where do you

draw the line? (Female, 23, no children but currently pregnant, no personal

experience with genetic conditions or disabilities, employment consultant)

It could be useful, but primarily isn’t for the health of the pregnant woman. It will

be used to identify disabled babies and women will be put under extra pressure

awaiting results, and then encouraged by media to terminate suspect pregnancies.

(Female, 42, three children, much experience with childhood disability,loooking

after home/family)

Not sure ‘easy’ information is necessarily a good thing. I wonder whether people

may not opt to have them without thinking about what they will do with the result.

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(Female, 33, one child, work-related experience of disability, speech therapist -

adult)

It is inevitable with advances in medicine, screening will become more

sophisticated. However, this will result in major dilemmas for expectant parents.

It is very difficult to decide whether to terminate a pregnancy if it is likely the

baby will have a genetic or other disorder and we would have to bear in mind that

when the child is older, cures may be found for that disorder. (Female, 59, three

children, no experience with genetic conditions or disability, self-employed

artist).

Limits

According to this set of public responses, NIPD raises questions about limits on the use

of prenatal genetic diagnosis. This theme is expressed through much of the above

discussion, particularly in concerns about possible availability of testing outside of the

health service context, and because testing would be ‘easier’. These concerns, and the

ambivalence described above, suggest that a system of monitoring the use of testing

would be in accordance with public attitudes. Further, they suggest a role for public

engagement in any expansion of conditions tested for beyond the existing availability of

tests. The following are representative of concerns about limits on testing use:

The improvements over safety for mother and child through NIPD will no doubt

be welcomed. Moreover, where it merely replaces current screening techniques I

see little room for controversy. However, as soon as the technology broadens its

range, it presents serious dangers of misuse and abuse by both companies and

parents as they are given more control over the design of their children. (Male, 21,

no children, no experience with genetic conditions or disability, student)

It sounds like NIPD could easily get out of hand, with the possibilities of misuse

and data mishandling. (Female, 37, one child, familial experience with disability,

teaching assistant)

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Abortion more common. Could abort a foetus for something a person could

develop later in life. The system could be abused to give choice of hair, eye, even

skin colour. (Male, 46, three children, no experience of genetic conditions or

disability, maintenance worker)

Discussion

Our findings reflect previous studies in identifying generally positive attitudes toward

risk reduction in prenatal testing. However, public attitudes toward the prospective

introduction of non-invasive prenatal genetic diagnostic testing also reflected

ambivalence regarding public health rationale and societal impacts of earlier and easier

prenatal genetic diagnosis. Many were divided - often within one response - concerning

benefits and drawbacks. A major divide was between perceptions of medical benefit to an

individual pregnant woman/couple, where NIPD is generally viewed in a positive light,

and societal implications of expansion of choice, particularly ‘too much choice’, which

was often viewed negatively. While this may not reflect new societal and ethical

concerns, it suggests that expansions from existing prenatal testing practices, may re-

open debate on societal and ethical implications of prenatal screening, particularly debate

about limits.

Concerns about limits appeared to be connected to societal implications regarding

normalisation of a quest for ‘perfection’ and lack of tolerance of disability, and to a

perceived likely expansion in abortions. Concern about limits was also connected to

commercial, and particularly direct-to-consumer, access to testing which places decision

making solely in the hands of consumers, suggesting the important role of health

professionals as gatekeepers. NIPD also raised for many concerns about non-medical

uses of tests.

The association of existing prenatal screening practices with eugenic rationale appears to

have a strong place in public attitudes in this UK sample, particularly as expressed

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through language reflecting the ‘disability critique’. Such critiques have argued that

existing prenatal testing practices are a form of discrimination against people living with

a target condition (e.g., Down Sydrome), and that the routine availability of testing leads

to material and/or ‘expressive’ harm [30]. Further, critiques from these perspectives have

suggested that the availability of testing has an impact on social attitudes and contributes

toward the stigmatisation of people with the condition [30] [31] [32].

Respondents also expressed the view that current prenatal testing practices cause anxiety

for pregnant women, pose moral dilemmas, and require counselling and support of health

professionals. The need for support, counselling and guidance from health professionals

was expressed strongly with regard to NIPD, and appeared to be one of the factors in

negative responses to the commercial availability of services. These responses raise the

question of whether current information provision and counselling models are sufficient

for expanded genetic diagnostic applications of NIPD, in the public view.

Because the question of limits on prenatal testing can be connected to societal practices

regarding abortion, concerns about limits as reflected in public attitudes in this sample

suggest that implications for legal approaches to abortion should be considered. As Hall

et al. [33] state, regarding the UK context, ‘controversial uses of technology can become

a routine part of practice without legal and ethical analysis, and … the NHS is part of the

broader social system. As such, it would be short-sighted to assume that the use of

cffDNA technologies within the NHS will not raise questions about abortion’ (p. 14).

Similar concerns may apply in other national and health system contexts (for example, in

the USA where states are empowered to enact legislation concerning abortion access).

We present this analysis against the backdrop of existing ethical and social debates about

prenatal testing, and a developing literature on NIPD. Many ethical and social debates

associated with existing prenatal diagnostic practices have not been resolved, and may be

exacerbated or revisited with the introduction of NIPD. In relevant literatures, association

continues between prenatal genetic diagnosis with selective termination of an affected

fetus and past eugenic practices, as well as current strands of eugenic debate [34] [35].

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Reducing the incidence of conditions of interest in the population is an implicit goal in

the availability of screening programmes [36]. Hovering in the background of these

debates are questions of what constitutes, and what measures are appropriate, to forward

the public’s health. These concerns are countered, to some extent and nonetheless

debatably, by the individualising discourses and practices of reproductive autonomy and

informed choice. Nonetheless, debate continues over how effective current prenatal

genetic counselling practices are in ensuring informed choice, and how they might be

improved [37] [38].

Existing prenatal testing practices have been criticised for normalising termination of

pregnancy for fetal abnormality, and for profoundly impacting the individual and social

experience of pregnancy [39]. The possibility of identifying fetal abnormality via

screening and invasive testing has led to a social phenomena of the ‘tentative pregnancy’

in which public disclosure of pregnancy is only made after no problems with fetal health

have been identified [39]. Connecting these critiques are concerns that women feel

pressure, whether within clinical, familial, or broader social contexts, to test and

terminate to avoid giving birth to an affected child [40]. Many studies have identified that

the decision to test is often not well informed, but rather seen as routine practice [41] [42]

[43]. The question of how severe or ‘serious’ a condition should be to be subject to

prenatal testing continues to be debated [44] [45]. These concerns were also reflected in

the ‘first responses’ analysed in this study.

Several analysts have sought to determine whether NIPD raises new social and ethical

issues, in a growing number of publications [1] [33] [36] [46] [47] [48] [49] [50] [51]

[52]. While acknowledging the advantages of NIPD over current practices in terms of

earlier and safer testing, most identify social and ethical concerns beyond those identified

with current prenatal testing practices. Primary among these is the need for carefully

considered counselling and informed consent procedures, especially should NIPD replace

current multi-step testing with a one-step diagnostic test. Other issues follow from the

ease with which the maternal blood sample for testing could be obtained. These include

fetal sexing for non-medical reasons; prenatal paternity testing; normalisation of testing

18

for minor abnormalities; testing being offered for a wider range of conditions without

sufficient scrutiny (similar to the ‘specification creep’ identified in [33]); and an increase

in the number of abortions performed due to higher numbers of women undergoing

diagnostic testing. The commercial potential of a blood sample based test has also been

raised, given the relative simplicity with which a sample can be provided. The possibility

of expanded forms of testing offered commercially raise considerable ethical, as well as

regulatory, concerns. Many of these ‘new’ concerns were raised by participants in this

study.

This data-set of ‘first responses’ was gathered from a purposive sample of the public and

does not constitute a random sample from which to generalize. Some self-selection of

participants may have occurred with regard to prior interest in prenatal testing or

disability, although over half reported no experience of disability or genetic disorders.

The methodology used does present a literacy bias and this is reflected in the generally

educated sample and in the written quotes presented. Nonetheless, these study results

have an important purpose in outlining parameters of concern for the public in relation to

NIPD. Research into public attitudes is important in providing the societal backdrop to

decisions made about prenatal testing for genetic conditions at institutional and individual

levels. As Rapp [53] has pointed out, lay individuals and communities create explicit and

implicit norms around reproductive choice, termination and disability. These norms form

the ‘public life’ in which prospective parents will make their private (or not so private)

choices about NIPD. Examining public attitudes is particularly important in the case of

prenatal testing given criticisms of the limited public discussion of routine

implementation of current practices.

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Table 1. Description of Study Sample

Total Study N = 71 participants

Male N=24 (37%) Female N=45 (63%)

Have children: Yes N= 52 (73%); No N= 19 (27%)

Pregnant or partner pregnant at time of study: N=8

Age range: 18-65. Mean age: 39.7 years (sd = 11.46)

Socio-economic classification:

Higher SES (professional): 46 (65%)

Lower/intermediate SES (non-professionals): 21 (29%)

Unemployed 4 (6%)

Ethnicity (self-described):

61 (86%) = ‘White British’

2 (2%) = ‘White other’ (e.g. Eastern European) (2%)

4 (6%) = ‘Black/Asian/Mixed’ (e.g. ‘White/African’ ‘Asian’) (6%)

4 (6%) = ‘British’ (6%)

Experience of disability or life-limiting illness:

Yes N=33 (47%)

No N=38 (52%)

Experience of genetic conditions or testing:

Yes N=24 (34%)

No N=47 (66%)