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Social Science & Medicine 65 (2007) 1094–1105

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Facilitating choice, framing choice: Staff views on widening thescope of preimplantation genetic diagnosis in the UK

Clare Williamsa,�, Kathryn Ehricha, Bobbie Farsidesb, Rosamund Scottc

aCentre for Biomedicine and Society, School of Social Science and Public Policy, King’s College London, Strand WC2R 2LS, UKbBrighton and Sussex Medical School, University of Sussex, Sussex, UK

cCentre for Medical Law and Ethics, School of Social Science and Public Policy, King’s College London, Strand WC2R 2LS, UK

Available online 15 June 2007

Abstract

In the UK, the Human Fertilisation and Embryology Authority (HFEA) is responsible for licensing preimplantation

genetic diagnosis (PGD). To date, licenses have been issued for the testing of about 70 genetic conditions, drawing on three

key ‘ethical principles’. Following a public consultation, the HFEA has recently widened the scope for PGD to include

susceptibility to late onset, lower penetrance conditions such as inherited breast cancer. As the numbers and types of

conditions which can potentially be tested for rises, the question of how, and indeed what limits should be set is timely.

Drawing on qualitative interviews and ethics discussion groups which took place prior to or during the HFEA

consultation, this paper explores the views of staff working in or linked to one PGD Unit in the UK, as to how they saw

these potential changes. The paper thus provides an opportunity to develop greater understanding of how staff working in

a morally contentious, innovative area viewed the potential expansion of their work, prior to that expansion taking place.

Key themes include ‘drawing lines’ on behalf of others, particularly with the current emphasis on individual reproductive

autonomy; and balancing the invasiveness and possible risks of PGD treatment against the ‘seriousness’ of the condition.

More broadly, the paper highlights the complexities involved in trying to develop general ‘ethical principles’ to govern the

use of ever evolving reproductive technologies.

r 2007 Elsevier Ltd. All rights reserved.

Keywords: UK; In vitro fertilisation; Preimplantation genetic diagnosis; Innovative health technologies; Sociology of ethics; Reproductive

technologies; Choice

Introduction

In the UK, the Human Fertilisation and Embry-ology Authority (HFEA) is responsible for licensingpreimplantation genetic diagnosis (PGD). Follow-ing its 1999 public consultation and the ensuing

e front matter r 2007 Elsevier Ltd. All rights reserved

cscimed.2007.04.033

ing author. Tel.: +44 78500 93522.

esses: clare.2.williams@kcl.ac.uk (C. Williams),

kcl.ac.uk (K. Ehrich), B.farsides@bsms.ac.uk

osamund.scott@kcl.ac.uk (R. Scott).

Report in 2001 by the Joint Working Party (JWP)of the HFEA and Human Genetics Commission(HGC), the HFEA developed what it refers to as‘ethical principles’ to guide its policy making andlicensing (HFEA, 2005). Firstly, the perception ofthe seriousness of the condition by those seekingtreatment must be an important factor in thedecision-making process; secondly, PGD should bemade available only where there is a significant riskof a serious genetic condition being present in theembryo; and thirdly, the indications for the use of

.

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PGD should be consistent with, though notnecessarily the same as current practice in the useof prenatal diagnosis (PND) (HFEA, 2005). Itshould be stated at the outset that for a number ofreasons, these ‘ethical principles’ could arguably beseen more as guidelines based on different aspectsof moral thinking. For example, there is roomfor assumptions to be made about the guidancebeing offered, and individuals’ perceptions playa key role in the decisions made. As will be seenlater, this can lead to difficulties for staff working inthis area.

In addition to these ‘principles’, there are anumber of factors, which the HFEA expect to beconsidered when deciding about the appropriatenessof PGD, including the likely degree of sufferingassociated with the condition and the availability ofeffective therapy, both now and in the future. TheHuman Fertilisation and Embryology Act 1990 alsorequires that account must be taken of the welfareof any child who may be born as a result of in vitrofertilisation (IVF) and PGD, and this assessmentmust be undertaken before treatment is offered. Todate, licenses have been issued by the HFEA for thetesting of about seventy genetic conditions drawingon those principles, although the recent advent oftechnologies such as preimplantation haplotyping(PGH) (Renwick, Trussler, Ostad-Saffari, Fassihi,& Black, 2006) means that many more conditionsand susceptibilities may now be specifically testedfor (as opposed to screened for), provided thenecessary genealogical information is available(Braude, 2006).

Following a public consultation between Novem-ber 2005 and January 2006 (HFEA 2005, 2006a, b),the HFEA has recently supported widening thescope for PGD to include susceptibility to lateonset, lower penetrance conditions, such as inher-ited breast cancer. Arguably, the widening of thescope for PGD throws its ‘ethical principles’ intosharper relief, yet in its consultation document, theHFEA stated:

The principles have worked well since beingimplemented and have given the HFEA a clearframework within which to consider new appli-cations of PGD technology. The HFEA does notintend to revisit these principlesyTherefore theHFEA are not seeking views on the merits ofthese principles (HFEA, 2005, p. 11).

This paper explores the views of staff working in,or linked to one PGD Unit on the use of PGD for

late onset, lower penetrance conditions. Our re-search took place immediately prior to, and duringthe consultation period, so this paper provides anunusual opportunity to develop a greater under-standing of how staff working in a morallycontentious, innovative area viewed the potentialexpansion of their work, prior to that expansiontaking place. There is a growing national andinternational social science and ethics literature onPGD which highlights the clinical, ethical andpolicy dilemmas implicit in this area, from theperspective of staff, patients and ‘publics’ (e.g.Ehrich, Williams, Scott, Sandall, & Farsides, 2006;Franklin & Roberts, 2006; Kalfoglou, Scott, &Hudson, 2005; Krones & Richter, 2004; Krones etal., 2006; Meister, Finck, Stobel-Richter, Schmut-zer, & Brahler, 2005; Roberts & Franklin, 2004;Watt, 2004; Zeiler, 2004). This paper adds to theliterature, by focusing on one specific developmentwithin the UK policy context. More broadly, thispaper contributes to the literature on the sociologyof biomedical ethics (De Vries & Conrad, 1998;Haimes, 2002; Zussman, 2000).

Clinical and policy background

PGD was developed in the late 1980s as analternative to PND. Couples with a family historyof an inherited condition may decide that they wantto try to avoid passing on the condition to theirfuture children. Their options include not havingchildren; adopting; using donor sperm or eggs; andnatural conception, hoping that the resulting child isunaffected. Genetic testing options include naturalconception followed by PND, and possibly termi-nation of the pregnancy; and PGD, replacing onlyunaffected embryos. PGD is currently offered inabout eight centres in the UK, which must belicensed by the HFEA. The technology of PGD canbe offered to couples who are at risk of having achild with a ‘serious’ genetic condition or, in somecases, to women who have experienced recurrentimplantation failure in IVF or repeated miscarriagewhich can be due to chromosome rearrangementssuch as reciprocal translocation (Braude, Pickering,Flinter, & Ogalvie, 2002; Soinu et al., 2006). IVF isused to create embryos in the laboratory, fromwhich one or two cells can be tested for specificgenetic disorders. Currently in the UK, up to twounaffected embryos can then be transferred to thewoman, where they may successfully implant.Success rates are difficult to quantify, as clinics

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have different ways of measuring this, and ratesvary depending on factors including the age of thewoman and whether the embryos used are fresh orfrozen (Thompson, 2005).

According to the HFEA consultation document,‘Choices and boundaries’ (HFEA, 2005), lateronset, lower penetrance conditions differ from theconditions previously licensed by the HFEA in anumber of important ways. Up until this point, theHFEA had only licensed PGD for conditions suchas Huntington’s Disease that were fully, or almostfully penetrant (usually over 90%). In their docu-ment, the HFEA state that penetrance determinesthe proportion of people who carry a copy of thefaulty gene that will be affected by a condition. If acondition is 100%, or fully penetrant, all thosecarrying the gene will develop the condition. Incontrast, the late onset cancer conditions consideredin the consultation vary from between 30% and80% penetrance (HFEA, 2005). Age of onset isanother key difference. Most of the conditionslicensed by the HFEA cause illness in infancy orchildhood, whereas people affected by late onsetcancer conditions may not have symptoms untiltheir 30s, or later. The HFEA had previouslylicensed PGD for adult onset conditions such asHuntington’s Disease, but only where conditionswere fully penetrant. Finally, there is the potentialfor early detection and effective treatment of someof these conditions. Although there are treatmentoptions for many of the conditions already licensed,such as cystic fibrosis, these are usually for the reliefof symptoms rather than cure.

New reproductive technologies

The introduction of technically sophisticatedtreatments such as PGD into the clinical settingmay have a powerful potential to prevent illness anddisease in novel ways, but they often concurrentlyintroduce clinical, ethical and social dilemmas(Brown & Webster, 2004). For example, Ehrichet al. (2006) state that PGD allows people to makenew kinds of choices that IVF does not, and thateven having such choices can be seen as controver-sial, not least because of what ‘choosing’ throughPGD implies for the parent–child relationship(Watt, 2004). Some of the clinical/ethical dilemmasdebated recently in the UK public domain includewhether or not couples should be able to use PGDto select for a particular condition such as deafness;and whether PGD should be allowed for tissue

typing alone, to determine whether the embryo (andpotential child) would be a suitable tissue donor fora seriously ill sibling, when there is no actual benefitfor that potential child. These individual questionscan be framed within larger moral, ethical and legaldebates, including parental autonomy and repro-ductive choice versus the welfare of the child whomay—or may not—be born, and clinical authority(Savulescu, 2002; Scott, 2002; Williams, 2006); andthe degree to which PGD may be seen asdiscriminatory, both on an individual and societallevel. Although the number of PGD proceduresperformed worldwide is relatively small in compar-ison to IVF cycles performed to alleviate infertility,PGD has nevertheless been described as a ‘centralethical turning point’, in that the ability to choosethe genetic characteristics of potential children canbe closely linked to a fundamental issue, namely,‘What it is to be human’ (Glover, 2003).

It has been argued that such technologies also lieat the heart of the uncertainty underpinning therecent Western development of bioethics (Fox,2000, p. 422). This uncertainty also relates to thetypes of diagnoses that NRTs are able to generate,with these being ‘more likely to depend on thelanguage of risk and probabilities than the languageof causality’ (Webster, 2002, p. 447). As will be seen,in the case of PGD the language of risk andprobabilities predominates, thereby posing complexmoral, clinical and ethical dilemmas for bothcouples and staff. The area of testing for suscept-ibility to late onset, lower penetrance conditionsrelates more broadly to how seriousness andsignificant risk is defined, and whether lines can,or should be, drawn in terms of what conditionsshould be tested for. These issues have beenexplored in relation to PND (e.g. Williams, Alder-son, & Farsides, 2002a, b). However, in this paperwe argue that although there are similarities, PGDalso throws up different dilemmas to those com-monly raised in relation to PND, although both areset within reproductive technology, in ‘an arenawhere medicine, social values and culturally deter-mined meaning are closely intertwined’ (Getz &Kirkengen, 2003, p. 2054).

It should be stressed at the outset that this studyis taking place in the UK within a particularhistorical, cultural and policy context which influ-ences the area profoundly. The UK is acknowledgedas having more liberal regulations on technologiessuch as embryonic stem cell research and PGD thanmany other countries (Jasanoff, 2005), although it

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should be noted that PGD for late onset, lowerpenetrance conditions is already carried out in, forexample, a number of North American clinics(Baruch, Kaufman, & Hudson, 2006; Retchitskyet al., 2002). In addition, the ethical model ofindividual reproductive autonomy dominant withinthe UK ‘frames’ the questions being explored in thisstudy and paper, in very particular ways. In otherEuropean countries, for example, the questionsmight be framed within ethical models whichprioritise the permissibility of securing the lifequality of a family, by avoiding the ‘burden’ thata child with a disability might be seen to represent(Kerr, 2004). This leads Roberts and Franklin(2004, p. 287) to state that: ‘Precisely which couplesshould be offered the choice of PGD is a technical,ethical and political question’.

In contrast to much of the research on newreproductive technologies (NRT) which tends tofocus on women and their partners, this articleexamines the use of PGD from the perspectives ofthe staff involved, exploring their views on aspectsof the work they perform. One of the key contribu-tions social science research can make to theunderstanding of ethical issues is that it sets themwithin the social context, seeking to understand howethical issues are identified, acted upon and thoughtabout in everyday settings. This paper adds to thegrowing number of anthropological and socio-logical studies which explore the ways in whichclinical/ethical dilemmas are discussed and actedupon in the clinical setting (Casper, 1998; Cham-bliss, 1996; Williams, 2005). Such studies contrastwith the dominant, disembodied ways in whichethical reasoning is traditionally presented inphilosophical bioethics, shifting the focus fromwhat should be happening, to what is happening(Haimes, 2002; Haimes & Luce, 2006; Hedgecoe,2004; Wainwright, Williams, Michael, Farsides, &Cribb, 2006).

Methods

The ongoing project from which this paperreports explores what actual and potential ethical,social, clinical and legal dilemmas genetic develop-ments and NRTs pose for practitioners, scientists,policy makers and others working in the area ofPGD. The project uses multiple methods to studytwo sites, both Assisted Conception Units inteaching hospitals in England. The clinics providea range of services including IVF to women and

couples who need fertility treatment, and PGD,which requires many of the same procedures andtechnologies.

Following Ethics Committee approval, our re-search includes observation in clinics; interviewswith staff from a range of disciplines includingnursing, obstetrics and gynaecology, radiography,embryology, molecular and cyto-genetics, andadministration; and innovative ethics discussiongroups (EDGs) for four to six people, facilitatedby a specialist in medical ethics (BF) (Alderson,Farsides, & Williams, 2002). Although for ease theterm ‘staff’ is used throughout this paper, it isrecognised that this generic category may serve toconceal the different positions and decision-makingpower held by the different types of staff in any oneunit. This paper draws on the 26 staff interviews andfive EDGs from our first study site, generatedbetween May and December 2005. Data from thesecond site is not included, as data collection therecommenced after the consultation process wascompleted, and was still in progress when theReport and final decision were published. However,it is acknowledged that individual ACUs in the UKdiffer markedly and have distinctive profiles shapedby a variety of factors, and the findings presentedhere have to be interpreted in that light. Theinterviews were conducted as ‘guided conversations’(Lofland & Lofland, 1984), and lasted between 1and 2 h. Open-ended questions and an informalinterview schedule were used, with themes includingperceptions of embryos; treatment eligibility forPGD; views about the genetic conditions thatshould be tested for including perceptions of‘seriousness’; the notion of reproductive choice;and the efficacy of regulatory systems such as theHFEA.

Topics for the EDGs were generated from acontent analysis of the 26 interviews previouslycarried out with individual staff, and also by askingthose interviewed what issues they felt couldusefully be discussed in the groups. Most of thoseinterviewed participated in an EDG, although anumber of staff who were not interviewed also tookpart. In order to ensure that the EDGs wererelevant for staff, the topics for each individualEDG were specifically tailored to those participantstaking part by, for example, addressing the issuesand examples they had provided in their earlierinterviews (Alderson et al., 2002). The groups lasted2 h each, and all of the discussions were tape-recorded and transcribed.

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Interview and group transcripts were analysedusing a modified version of the framework approach(Ritchie & Spencer, 1994). The complete set oftranscripts was examined for emergent themesrelating to the expansion of the use of PGD,particularly in relation to lower penetrance, lateonset conditions. Although it was widely knownthat there was an impending HFEA consultation onlate onset, lower penetrance conditions, the docu-ment was only released following completion of allof our Site 1 interviews, and just prior to the EDGs.However, the long-standing HFEA ‘ethical princi-ples’ which UK clinics must be guided by, andagainst which their standards of care may be judgedduring HFEA clinic inspections, were very familiarto all participants. This meant that there was atendency for staff to talk in terms of theseprinciples, although they did not often refer tothem explicitly. Sub-themes including ‘concepts ofseriousness’; ‘drawing lines’ on behalf of others,particularly with the current emphasis on individualreproductive autonomy; and balancing the inva-siveness and possible risks of PGD treatmentagainst the ‘seriousness’ of the condition wereidentified. These were placed within our overarchingorganising theme of the HFEA ‘ethical principles’.To protect anonymity, each participant is referredto by their allocated study number, and reference totheir occupation is in general terms rather thanspecific job titles.

Themes

This section of the paper explores the ways inwhich staff discussed the widening of the scope forPGD in terms of late onset, lower penetranceconditions. Although we have placed these themeswithin the HFEA ‘ethical principles’ framework,in practice, some of the issues discussed relateto more than one principle. In some ways then,this is an artificial structuring but it serves one ofthe analytical purposes of the paper, namely,highlighting some of the difficulties of applyingthe HFEA ‘ethical principles’ to the practice ofPGD.

First ‘ethical principle’: clients’ perceptions of

seriousness

The first ‘ethical principle’ guiding PGD staffstates that the perception of the seriousness of thecondition by those seeking treatment must be an

important factor in the decision-making process,thereby emphasising the notion of reproductivechoice.

As with PND (Williams et al., 2002a), theconditions discussed by staff fell into a continuumalong which various categories were ranged. At oneend were life threatening, profound conditionswhere children usually die in childhood, and wherestaff considered the child suffered:

I would consider a serious condition, forinstance, a genetic condition called Tay SachsDisease, where the children die in childhoodyIwould consider that a serious condition because achild being so sick in early life, and goingthrough all the thingsyfor the child, for theparents, just as bad. So that condition I wouldconsider serious on those two accounts. (Doctor32, EDG 3).A young woman had a pregnancy with a partnerthat led to the death of the child with an inheriteddisease. She was very traumatised, the child took18 months to die and died very horribly, and Ithink that’s the kind of thing that if I did have toput on a list, that’s one that could go on the list(Counsellor 28, EDG 2).

Whilst there was no disagreement over thesekinds of conditions, susceptibility to late onset,lower penetrance conditions such as inherited breastcancer led to complex discussions, which ofteninvolved comparing aspects of these late onsetconditions with other conditions already beingtreated by PGD in this Unit. Some staff did feelthat late onset, lower penetrance conditions weresufficiently serious and comparable to other condi-tions already being screened for:

For families like that, who have a predispositionto aggressive early onset type of breast cancer, Ithink if they feel, for them, that the possibilityof selecting embryos that would be unaffected,is a suitable option, I can understand thatycertainly, breast cancer predisposition genes cancreate as much havoc and misery in a family asHuntington’s (Doctor 23, interview).

However, others felt that these conditions werenot comparable to conditions currently beingscreened for. The lower penetrance of breast cancerand the possibility of treatment were two key factorsaffecting how such staff perceived the seriousness ofthe condition, and the appropriateness of offeringPGD:

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Yes, there is an issue over the seriousness of it[breast cancer], and the treatability of it. Butyit’s actually the penetrance of it as well.. there istreatment, although, you know, the treatment’shorrible, and some women will not survive it, butI think that’s not a dead certainty. Huntington’sis a late onset condition, it’s horrible, it’s a nastycondition, it has an impact on all members of thefamily, and if you’ve got the gene you’re going toget ityand there’s no treatment. With breastcancer, there is treatmenty (Counsellor 17,EDG 4).

The following participant had other concernsabout the seriousness of breast cancer in relation toPGD use, including the age of onset, the fact thatthe potential risk could be reduced, and the possiblerisks to carriers that might result from havingfertility treatment:

Basically what it means at the present time is that65 out of 100 carriers will get breast canceryandthen it’s 11% to 39% for ovarian cancer, butthere is a probability of getting it, not a certainty.The earliest you get it is around age 30. There arethings you can do to reduce your risk by about90%, which will then be from 65% to 6.5%,which is actually below the population riskybutthese are grown up diseases, and that’s where weare now, and lots of other things are comingalong to moderate that even more. And inaddition, if you undergo fertility treatment, ithasn’t been proven to be a problem, but whoknows how that could affect your breast andovarian cancer risk if you’re a carrier of amutated gene (Doctor 32, EDG 3).

Despite these concerns, the notion of reproduc-tive autonomy at the heart of this ‘ethical principle’ultimately made it difficult for many of the staff toargue against. For example, Scientist 34 starts byvoicing her concerns, which are similar to thoseabove, but then acknowledges the central impor-tance of recognising individual families’ subjectiveexperiences:

But with breast cancer you can have all thispreventative treatment and the treatment is a lotbetterybut these are people who’ve had breastcancer, and they’ve had family members, four orfive family members die, suffer horribly withbreast cancers and associated cancers, and theycome forward saying, ‘‘I just don’t want my childto go through this’’, which is fair enough. I think

you have to be in that positiony (Scientist 34,EDG 5).

One of the key differences between PGD and PNDis that, with the former, couples have usually sought areferral for PGD treatment because they themselves

have already decided that they are at risk of having achild with what they consider to be a seriouscondition, based on their family history. This could,as staff recognised, make it difficult to argue againstclients’ experiential knowledge about such conditions.As with findings in other areas of reproductivetechnologies including PND and fetal medicine, thesequotes highlight dilemmas for staff around the limitof reproductive autonomy; and the difficulties in-volved with reaching any kind of agreement aroundthe definition of seriousness. In contrast to theconditions currently treated by PGD, a number ofstaff in this Unit did have concerns about the extentto which late onset cancer conditions were sufficientlyserious to warrant PGD. However, there was also arecognition that this had to be balanced againstcouples’ own perceptions of seriousness, and thistended to ‘trump’ staff concerns (Farsides, Williams,& Alderson, 2005).

Although the HFEA/HGC Report on PGD(2001) recommended that specific guidelines bedeveloped in relation to decisions around which‘serious genetic conditions’ PGD should be offeredfor, the Report did not support the creation of a listof conditions fulfilling the criteria of seriousness.Instead, they recommended that, ‘PGD guidanceshould support difficult parental choices rather thanappearing to discriminate against individuals withcertain conditions’ (HFEA/HGC, 2001, p. 5).However, although the role of couples in makingthese decisions is emphasised, the Report also firmlystates that, ‘this treatment should not be availableon demand’ (HFEA/HGC, 2001, p. 5). This leadsRoberts and Franklin to remark that: ‘Tensionbetween patients’ desire for PGD and the need to setlimits on its availability, then, is also central todiscussions of PGD’ (2004, p. 287). It is this tensionbetween patient choice and the clinical judgement ofstaff about the seriousness of the condition andtherefore the appropriateness of offering PGD thatlies at the heart of staff dilemmas in this section.

Second ‘ethical principle’: significant risk

The second HFEA ‘ethical principle’ contendsthat PGD should be available only where there is

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significant risk of a serious genetic condition beingpresent in the embryo. One issue is that selectingembryos suitable for implantation is more complexin PGD than in IVF (Ehrich, Williams, Farsides,Sandall, & Scott, in press). In IVF, embryologistsmake the decision about which embryo to transferbased on criteria relating primarily to the quality ofthe embryo. In PGD, the choice involves considera-tion of many additional factors including how likelyit would be that a particular embryo with theaffected gene would result in the disease beingmanifested and the risk of misdiagnosis for thedisease for which the embryo is being tested. Thismisdiagnosis rate is one reason that PND followingPGD is usually advised. Such complexities are wellillustrated in the following quote:

What’s the point of doing PGD where themisdiagnosis risk is 2%, and where the risk ofhaving a child born with the condition is 1%,that logically doesn’t work for me. Yet coupleswill turn it round, and see that 2% risk as small,and the 1% risk as massiveyfor some of thesingle gene disorders, there’s a 5–7% misdiagno-sis risk per embryoysome of my colleagueswould say they’re reducing that couple’s 25%risk of having a child affected down to a 5–7%chance, and people are happy with that. I don’tknow whether we should be offering PGD inthose circumstances (Nurse 1, interview).

Because the seriousness of the condition wasoften seen by staff to incorporate the significance ofthe risk, the arguments about the significance of therisk were similar, focusing on the lower penetranceand potential treatment:

I think the difference between breast cancer andHuntington’s is that once Huntington’s starts,you will get it (Embryologist 33, EDG 5).

That’s why we treat [variable conditions] whereaswith this [late onset inherited breast cancer], it’spossible that you might not even have ityandit’s treatable to the point where you will have anormal lifespan (Scientist 2, EDG 5).

A number of staff also brought the possible riskto the woman and to the potential child of under-going PGD, into their deliberations:

You could be going through all of this [PGD],and this is not just a simple procedure, there areso many unknowns for these babies beingbornyif it was without any risk at all, and

maybe didn’t even cost anything, maybe thatwould be differenty is the risk that you’rebalancing this against, is it really worth it?yImean, breast cancer is potentially treatable(Counsellor 17, interview).

I can see a role for screening women for thisBRCA [inherited breast cancer] gene. However,I’ve yet to be convinced that it would benecessary to perform PGD for cases of womenwith the BRCA gene mutation, because we knowthe statistics. The roulette of PGD is the factthat, out of ten embryos, you’re lucky to get onethat will be replaceable. And if you’re looking atan essentially fertile population, are we doingthem a disservice? I think we probably are, byoffering them PGDywhere the potential riskbenefit of having a non BRCA replaced femaleembryo, is questionable (Doctor 6, interview).

However, as with the views expressed in theprevious section, this doctor then went on tohighlight the importance of a couple’s own con-cerns:

Of course, it must be serious for them to comehere. My point is that this isn’t a one stop clinic,so they don’t just walk in the door and say, ‘I’vegot a genetic concern that I don’t want any childto have’. They’ve been through so many differentpeople and different mechanisms to get here, thatyou would only get here if you were absolutelyadamant that this was an issue for you. And if itis an issue for you, and we’re in a position to helpin some small way, then I think we should help(Doctor 6, interview).

So, as with the findings in the previous section,PGD staff also had concerns about the significanceof the risk of late onset, lower penetrance condi-tions. However, as with the issue of seriousness,they recognised the importance of taking intoaccount clients’ own perceptions of the level of risk.This is hardly surprising, given that the HFEA/HGC Report also drew attention to this, stating:

‘The JWPyagreed that the personal nature ofthis decision meant that a central role in thejudgement about the significance of the risk andthe seriousness of the condition should be givento the people seeking treatment’ (2001, p. 7).

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Third ‘ethical principle’: consistency with PND

The third ‘ethical principle’ that underpinscurrent PGD practice states that indications forPGD should be consistent with, though notnecessarily the same as, current practice in PND.This ‘ethical principle’ was one which staff hadfound problematic even prior to the consultation onlate onset cancer conditions. These difficultiesrelated primarily to the perceived difference inmoral status between an embryo and a fetus, andthe difference between ‘terminating a pregnancy’and ‘discarding an embryo’:

They’re now able to offer PGD for moreconditions, obviously. And I think, more andmore we’re getting referrals for conditions thatare considered less life threatening or—I don’tlike using the word ‘disabling’—but they haveless impact on the person’s life, so that can bedifficult. I know one of the mantras isy’if wecan offer prenatal diagnosis for this condition,we should offer PGD’, and I don’t know whetherthat’s necessarily trueybecause many peoplewould consider having PGD, but something theywould not do is have PND. So they considerhaving embryo screening and discarded affectedembryos, but they would not have PND orterminate an affected baby (Nurse 1, interview).

It’s hard because often couples wouldn’t havePGDyBut they view the embryo as different,and so PGD fulfils another area which is moreacceptableybecause you’re discarding an em-bryo, not an actual pregnancy (Counsellor 17,interview).

In many ways then, staff felt that the indicationsfor PGD use were not consistent with current PNDpractice. Further, it seemed that the proposedchanges relating to late onset, lower penetranceconditions might increase these inconsistencies, butthis was not necessarily seen negatively. In fact, itcould be seen as a benefit compared with PND andtermination of pregnancy:

I think people accept that actually PGD is one ofthe areas that you can use the technology, not ina better way, but it’s more acceptable to use PGDfor late onset disorders than PND, becauseyou’re selecting embryos, rather than destroyingan embryo once it’s actually implanted. So Ithink in general, there’s an understanding that

that’s a good way to use PGD and an appro-priate way to use PGD (Scientist 5, interview).

Although PGD was seen by staff to be in manyways more acceptable to couples than PND,particularly for what were seen as less seriousconditions, there were again concerns which relatedto the need to take the welfare of the potential childinto account:

I think it’s difficult because we often try tocompare it to people having prenatal diagnosis,and I don’t think that’s an easy comparison tomake, and again, it depends on how you view anembryo versus the fetusySo I think that whatyou would consider doing PGD for, doesn’tnecessarily have to match with what you wouldconsider terminating a pregnancy for, which hashistorically been how people have been decidingwhat to do PGD foryBut if we’re uneasy aboutoffering PND and termination, then it suggeststhat it’s a less serious condition, and until weknow the long term impact of PGD, should webe offering PGD for less serious conditions?(Counsellor 10, interview).

There were also concerns that demand mightactually be created if the HFEA approved PGD forlate onset conditions:

So I’m kind of wary, overall, of being pushedinto that, and that will be the case if that licenceactually comes throughy basically, demand willbe generated there, and as I said, no woman hasasked us so far for this [PGD for inheritedsusceptibility to breast cancer], ever, and notfor PND either, so I just wonder. So this istaking things a little further eveny (Doctor 32,EDG 3).

In the UK, there is no record that PND has beenused to test for late onset cancers, but it could beargued that if PGD testing for late onset cancerconditions is acceptable, then to maintain consis-tency, PND for such conditions should also beacceptable. Rather than arguing for this, many staffemphasised instead the benefits of PGD for suchconditions over PND—in other words, the lack ofconsistency—which might involve the terminationof a fetus. However, there were some concernsabout achieving a balance between the possiblelong-term effects of PGD on the potential child andtesting for a less serious condition, and about the

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possible generation of demands that was ‘takingthings a little further eveny’.

Discussion and conclusion

This paper has explored how staff working in andlinked to the area of PGD talked about thepotential widening of the criteria for PGD, parti-cularly with reference to the ‘ethical principles’ ofthe HFEA. To summarise, staff had variousconcerns about widening the criteria for PGD toinclude lower penetrance, late onset inheritedconditions, and felt that it might make it moredifficult for their work to be consistent with theHFEA ‘principles’. However, despite their reserva-tions about the proposed expansion of PGD, manystaff felt that it would be difficult to argue againstcouples’ experimental, personal knowledge of suchconditions, and such considerations were often seenas ‘trumping’ other factors. These findings firstlyhighlight the difficulties encountered by staff whenattempting to work within ‘ethical principles’ whichcould more accurately be described as guidelinesthat direct them to take account of, for example,social and cultural factors. They also highlight theways in which guidelines devised by a regulatorybody (albeit following consultation) can be imple-mented by staff in clinical practice, and theinterpretive and practical gaps which can ensue(Fisher, 2006; Lipsky, 1980). Finally, the findingsshow the ways in which regulatory bodies can setand preframe the terms of policy agendas. Byexcluding any discussion about its ‘ethical princi-ples’ in the public consultation, the HFEA effec-tively narrowed the focus of the exercise (Irwin,2001) to that of potential expansion of thetechnology.

In 2001, the HFEA/HGC Report in response tothe public consultation about PGD noted a keyconcern expressed by respondents was that it shouldonly be used for ‘a limited number of specific andserious conditions’ (HFEA/HGC, 2001, p. 12).However, it is well recognised that following theirinitial introduction into clinical services, furtherdevelopment of NRT’s can often result in increas-ingly complex choices for both staff and patients(Webster, 2002; Williams, Sandall, Lewando-Hundt, Heyman, & Spencer, 2005), leading Rose(2001, p. 22) to argue that, ‘our very biological lifeitself has entered the domain of decision andchoice’. This also needs to be set within moregeneral trends within Western society, including the

current individualised focus on screening andpreventive medicine (Beck, 1992). Because of theprofound moral, ethical and societal issues situatedat the heart of reproductive technologies, and theway in which IVF/PGD is situated between the‘public and private’ (Thompson, 2005), there areoften additional complexities associated with thesetechnologies, including how, whether and whatlimits should be set in terms of the scope of thetechnology’s use.

Such technologies are set within the context ofWestern antenatal care, which since the late 1960shas been transformed. Pregnancy is increasinglyseen as a time of risk, with an emphasis on screeningand predictive diagnostic monitoring. The promiseof ever widening reproductive choice by increasinglysophisticated methods is one of the main drivers tothe new genetic and reproductive technologies(Scully, Banks, & Shakespeare, 2006; Shakespeare,2006) and PGD falls within this context, with itsstrong discourse on clients’ choice. In the UK, PGDis similar to other reproductive technologies, in thatthe key ethical concerns are seen as embedded in theparticular individual situations in which women andcouples make their reproductive choices (Helen,2004). It should of course be stated that thisemphasis on individual choice serves partly todistance such technologies from being seen aseugenic practices (Shakespeare, 2006). However,this individualistic focus also tends to minimise theways in which such choices are ‘framed’ by manyother factors including, for example, economicvalues, changing conceptions of normality and thecurrent emphasis on libertarian self-reliance (Kerr,2003, 2004; Shakespeare, 1999).

In addition, with such choices comes responsi-bility, and Roberts and Franklin describe at lengththe ‘burden’ of responsibility people consideringPGD feel, arguing that, ‘In the case of PGD, thisneed for limits [to choices] must be balanced againstthe strongly felt obligations [of respondents] toprevent suffering in future children’ (2004, p. 89).This tension between setting limits and individualinformed choice is central to PGD and to otherreproductive technologies such as antenatal screen-ing (Williams et al., 2002a, b), PND and fetalmedicine (Williams, 2006). As in these other areas,staff in this Unit were very aware of this tensionand, despite concerns about the potential wideningof PGD criteria, tended to prioritise individualclient choice. However, it should be noted thatalthough PGD enables new forms of reprogenetic

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choice to be made prior to a pregnancy beingestablished, as Roberts and Franklin showed, ‘thesechoices are neither simplified nor made easier as aresult. Indeed, PGD offers choices that can beexperienced [by couples] as an obligation, anopportunity, or ‘‘not a choice at all’’‘ (2004, p. 92).

Although there are similarities between antenatalscreening, PND and PGD, there are also importantdifferences which may ultimately make it moredifficult to set limits in terms of less seriousconditions being tested for by PGD, particularlywith the current priority placed on individual,informed choice more generally, and within theHFEA’s ‘ethical principles’ specifically. Firstly,couples have usually identified the condition asone that they themselves perceive as serious, whichis why they have asked to be referred for PGD. Suchperceptions of seriousness are central to the HFEAprinciples. Secondly, one of the key concerns aboutantenatal screening and PND in relation to achiev-ing informed choice is the lack of provision ofaccurate information about screened for conditions,conveyed by those with broad, practical experienceof the conditions. In contrast, those attending forPGD treatment are often experts in the specificcondition, having seen family members livingwith—and sometimes dying because of—that con-dition. Thirdly, the lack of time antenatal staff haveto give information about routinely ‘screened for’conditions in clinics is of concern (Alderson,Williams, & Farsides, 2004), as is the commonassumption that women will have the screeningoffered (Williams et al., 2005). In the UK, far moretime is allocated to couples considering PGD than isavailable for women considering antenatal screen-ing. In addition, such counselling in PGD is oftenundertaken by specially trained genetic counsellorswith particular expertise in the area (Kerr, 2004;Williams, Alderson, & Farsides, 2002c). Finally,and perhaps most importantly, many staff felt thatthe perceived difference in moral status between anembryo and a fetus meant that PGD for less seriousconditions could be seen by both themselves andwomen as a more preferable choice than womenundergoing PND followed by a termination ofpregnancy.

Although many of the points above can be seen asillustrating various strengths in the clinical servicecurrently offered by PGD staff in this Unit, thetechnology of NRTs is always developing, and PGDis no exception. PGD is currently offered to a smallnumber of couples, as was antenatal screening and

diagnosis in the early days of its development. Manyof the problems in antenatal screening noted abovedeveloped, or were exacerbated as the technologyadvanced, and the service was gradually ‘rolled out’from high-risk women to pregnant women moregenerally. Although PGD will remain a specialisedservice for the foreseeable future, what might be theconsequences as it expands? For example, Renwicket al. (2006) describe their new PGD test, preim-plantation genetic haplotyping, as representing a‘paradigm shift’ for embryo diagnosis, which will‘widen[ing] the scope and availability of preimplan-tation testing’, meaning that it could be offered:

‘yby any assisted conception unit with appro-priately trained biopsy practitioners, and accessto and collaboration with a suitably accreditedmolecular genetic diagnostic laboratory. Waitingtimes for establishing new tests for specificdisorders will be reduced substantially, and manymore families with mapped single gene disorderswill be able to benefit’ (2006, p. 766).

If this, or other innovative technological devel-opments, enables PGD to expand as described,what might be the consequences of this for patients,for staff, and for regulatory bodies? For example,would the specialist genetic counselling services beexpanded to match the increasing numbers ofpatients, or might the service be diluted, as hasarguably happened in antenatal care? Obviously,there will benefits for individual patients, but aswith other recent developments, the broader im-plications including the clinical, ethical, social andorganisational aspects need to be thought out aheadof any wider scale implementation.

In conclusion, increasing concern over the ethicaland social implications of innovative procedures inhigh-tech antenatal care has led to efforts tomonitor and formulate guidelines for their clinicalapplication (Helen, 2004). This paper illustratessome of the difficulties that staff working in the areaof PGD discussed in relation to HFEA guidanceand the potential widening of the scope of theirservice. In doing so, it highlights the complexitiesinvolved in trying to develop general ethicalprinciples for such shifting and incremental tech-nologies, in an area which places great rhetoricalemphasis on individual freedom of choice, whilstconcurrently trying to ‘frame choices’. By doing so,we also hope our paper contributes on an analyticallevel to the development of a sociologically in-formed ethics of biomedical science.

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Acknowledgements

With thanks to all the staff and patients whoparticipated in this research; to coapplicants PeterBraude, Jane Sandall and the reviewers for helpfulcomments; and to The Wellcome Trust BiomedicalEthics Programme who funded the project ‘Facil-itating choice, framing choice: the experience ofstaff working in PGD (No.: 074935).

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