Down Syndrome 1

Medical Law Review, 19, Spring 2011, pp. 157191 doi:10.
1093/medlaw/fwr009 Advance Access Publication April 29, 2011
REGULATING PREIMPLANTATION GENETIC DIAGNOSIS: THE CASE OF DOWNS SYNDROME

TIMOTHY MARK KRAHN
Novel Tech Ethics, Faculty of Medicine, Dalhousie University, Canada
I. INTRODUCTION
Preimplantation genetic diagnosis (PGD) involves the testing of embryos produced through in vitro fertilisation (IVF) or intracytoplasmic sperm injection. One or two blastomeres are excised from the embryo at the 6to 8-cell stage, and a genetic analysis is conducted with probes to detect heritable genetic conditions. Most commonly, only unaffected embryos will then be transferred to the uterus in the hope of initiating a pregnancy that in all likelihood will not be affected by the familial disorder or chromosomal anomaly tested for.1 PGD was originally developed in the late 1980s as an alternative to prenatal diagnosis (PND) for couples wishing to produce a genetically related child free of an undesired, heritable, genetic condition where at least one of the prospective parents is a known carrier.2 Given that it is possible, and in the opinion of some desirable3 to utilise PGD to select against Downs syndrome embryos in the context of IVF, is it appropriate for health care professionals to offer, and society to permit, the use of this technology for this purpose? What makes this condition so seriousin contradistinction to other not-serious-enough conditionsthat PGD testing for it is deemed an appropriate intervention.
2 3
This research was funded by a Canadian Institutes for Health research grant Towards a Single Embryo Transfer in the Human. Thanks to Franc oise Baylis, Heather Cockwell, Andrew Fenton, Christopher Kaposy, Simon Outram, the Novel Tech Ethics research team, the Dalhousie University Bioethics Department Works in Progress Seminar, and two anonymous reviewers from this journal for very helpful, critical feedback on earlier drafts of this paper. CM Conn and others, Preimplantation Genetic Diagnosis for Couples at High Risk of Down Syndrome Pregnancy Owing to Parental Translocation or Mosaicism (1999) 36 J Med Genetics 45. AH Handyside and others, Biopsy of Human Preimplantation Embryos and Sexing by DNA Amplication (1989) 1 Lancet 347. M Twisk and others, Preimplantation Genetic Screening as an Alternative to Prenatal Testing for Down Syndrome (2007) 88 Fertil Steril 804; Y Zhang and others, Preimplantation Genetic Diagnosis for Down Syndrome Pregnancy (2007) 8 J Zhejiang Univ Sci B Biomed Biotechnol 515.
Medical Law Review # The Author [2011]. Published by Oxford University Press; all rights reserved. For Permissions, please email: journals.permissions@oup.com
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M EDICAL L AW R EVIEW
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The objective of this paper is to challenge the validity of offering PGD services for Downs syndrome on the basis of English law and policy, not to argue for a ban on PGD testing for Downs syndrome. First, I outline the factors to be considered when deciding the appropriateness of any PGD application as given in English law and policy. I then demonstrate that licensing PGD testing for Downs syndrome not in itself, but on the basis of these factors is problematic, or at the very least debatable. In this regard, the justication for extending PGD testing for Downs syndrome under the current regulatory instruments as an appropriate application of this technology do not follow from a consideration of the evidence as given in the relevant literature about the capacities and quality of life possible for persons living with Downs syndrome. I next consider why the recent move of the Human Fertilisation & Embryology Authority (HFEA) to have an exclusive list of serious genetic conditions,4 for which PGD testing is approved in principle, stands to reinforce prejudices, stigmas, and unjust social discrimination against persons living with Downs syndrome (and potentially their families as well).
II. ENGLISH LAW AND POLICY ON APPROPRIATE USES OF PGD

PGD, as a testing procedure applied to embryos, provides information used in the selection process to decide which embryos are to be implanted when trying to initiate a pregnancy in the context of IVF. It is licenced by the HFEA according to the Human Fertilisation and Embryology Act 1990,5 now amended by the HFE Act 2008.6 The Act (1990) accorded the HFEA discretionary authority to issue licences for activities involving the handling and/or manipulation of embryos: (i) to provide treatment services; (ii) to store gametes and embryos; and (iii) to carry out researchall licences to engage in otherwise prohibited
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HFEA, PGD Conditions Licenced by the HFEA (29 November 2010) , http://www.hfea.gov.uk/cps/hfea/gen/pgd-screening.htm . accessed 29 November 2010. Human Fertilisation & Embryology Act 1990 (c.37), s11. Human Fertilisation & Embryology Act 2008 (c.22). All references hereafter to the 1990 Act (as Amended 2008) will be to the following: Human Fertilisation and Embryology Act 1990. As Amended (2008)an Illustrative Text (26 November 2008) , http://www.dh.gov.uk/en/Publicationsandstatistics/ Publications/PublicationsLegislation/DH_080205 . accessed 4 December 2010. At the time of writing, the HFE Act 1990 had not been re-written to incorporate the 2008 amendments. Also at the time of writing, the two pieces of legislation were meant to be read alongside each other. The illustrative text incorporates the two documents but has no ofcial status.
Med. L. Rev. Regulating Preimplantation Genetic Diagnosis 159

activities.7 As such, PGD has been, and still is, licenced as a treatment service.8 And, as a treatment service, the HFEA continues to authorise PGD as a practice designed to secure that embryos are in a suitable condition to be placed in a woman.9 The HFE Act 1990 did not either directly address PGD or prescribe specic conditions for its use. Under the HFEA Act 1990 (as amended in 2008), several new clauses now place onto the face of the legislation the purpose for which embryo testing can lawfully be carried out.10 Accordingly, in a case where there is a particular risk that the embryo may have any gene, chromosome or mitochondrion abnormality, the HFEA is authorised to grant a licence to the relevant applicant (i.e. clinic) for the purpose of establishing whether it the embryo has that abnormality or any other gene, chromosome or mitochondrin abnormality.11 It is now a statutory requirement12 under the Act (as amended 2008) that a licence for the aforementioned purpose cannot authorise the testing of embryos, unless the Authority [HFEA] is satised(a) in relation to the abnormality of which there is a particular risk and (b) in relation to any other abnormality for which testing is to be authorised under sub-paragraph (1)(b), that there is a signicant risk that a person with the abnormality will have or develop a serious physical or mental disability, a serious illness or any other serious medical condition.13 These mandatory requirements provide the grounding for the HFEA guidance in the Code of Practice (8th edition) which maintains that the use of PGD should be considered only where there is a signicant risk of a serious genetic condition being present in the embryo.14 However, the denition of serious is still nowhere given in either the HFE Act (as amended 2008) or the Code of Practice (8th edition). The Code of Practice (8th edition) is concerned that:
7 8 9 10
11 12
13 14
M Brazier, Regulating the Reproduction Business? (1999) 7 Med L R, 166, 169. HFE Act 1990. As Amended (2008) (n 6) Sch 2, s1(3). Ibid, Sch 2, s1(1)(d). HFEA and the National Council for Voluntary Organisations, Regulating Preimplantation Genetic Diagnosis for the Future: Listening to Your Views (Report) (26 January 2009) 1, 5. Report on le with author; available upon request from HFEA. HFE Act 1990. As Amended (2008) (n 6) Sch 2, s1ZA(1)(b). See C OToole and J Tizzard, Licensing Embryo Testing (18 March 2009) s1.1 1.4 , http://www.hfea.gov.uk/docs/AM_Item_12_March09.pdf.pdf . accessed 4 December 2010. HFE Act 1990. As Amended (2008) (n 6) Sch 2, s1ZA(2)(ab). HFEA, Code of Practice, 8th edition (2009), s10.5
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When deciding if it is appropriate to provide PGD in particular cases, the seriousness of the condition in that case should be discussed between the people seeking treatment and the clinical team. The perception of the level of risk for those seeking treatment will also be an important factor for the centre to consider.15 In any particular case, the appropriateness of using PGD should be determined through consideration of the following factors: (a) the views of the people seeking treatment of the condition to be avoided, including their previous reproductive experience (b) the likely degree of suffering associated with the condition (c) the availability of effective therapy, now and in the future
(d) the speed of degeneration in progressive disorders (e) the extent of any intellectual impairment
(f ) the social support available, and (g) the family circumstances of the people seeking treatment.16 In using these factors as criteria for assessment, licenced clinical centres in the UK are given the responsibility to consider in which cases they can and in which cases they cannot justiably offer PGD services. The HFEA has already approved PGD for Downs syndrome.17 Taking into account factors (a) (g)excluding (d)18how is it that Downs syndrome qualies as a serious condition for which PGD testing is to be judged appropriate? In what follows, I assess the relevant evidence that can be brought to bear for each of the above factors to determine the validity of such a judgment. I discuss in order: (A) the relevant reproductive experience and views of those seeking PGD for Downs syndrome [factor (a)]; (B) the availability of effective therapies for Downs syndrome, now and in the future [factor (c)]; (C) the extent of expected intellectual impairments associated with Downs syndrome [factor (e)]; (D) the likely degree of suffering associated with the condition from the perspective of the individual with Downs syndrome [factor (b)]; (E) the likely degree of suffering associated with the condition from the perspective of families to individuals with Downs
15 16 17
18
Ibid. Ibid, s10.6. Conn and others (n 1); J Cozzi and others, A Trisomic Germ Cell Line and Precocious Chromatid Segregation Leads to Recurrent Trisomy 21 Conception (1999) 104 Hum Genet 23. Downs syndrome is not a progressive disorder, and therefore factor (d) is irrelevant.

syndrome, as well as how family circumstances and available social supports impact the expected suffering of all family members, including individuals with Downs syndrome [factors (b), (g), and (f )].
III. IS PGD FOR DOWNS SYNDROME APPROPRIATE? A. The Views and Reproductive Experiences of Those Seeking PGD
(a1) the views of the people seeking treatment of the condition to be avoided, (a2) including their previous reproductive experience19 In what ways could factor (a2), couples reproductive experiences, be seen as relevant for determining whether PGD for Downs syndrome is an appropriate application of this technology? Trisomy of chromosome 21, which leads to Downs syndrome, is one of the most frequent aneuploidies. But most cases of Downs syndrome are not inherited, and therefore being a carrier, let alone a known carrier, would be very rare: the recurrence risk of a Downs syndrome pregnancy after a previously affected pregnancy is approximately 1 2%.20 PGD for Downs syndrome has been reported in a few studies: in the case described by Cozzi and colleagues, at least 70% of ovulated oocytes were hyperhaploid for chromosome 2121; in the two cases reported by Conn and colleagues, 64% and 91% of unfertilised oocytes/embryos showed chromosome 21 aneuploidy and chromosome 21 imbalance, respectively.22 Though studies have demonstrated that the majority of second trisomy 21 pregnancies could be a product of chance alone,23 cytogenic analysis can be used to rule out the possibility of parental translocations or mosaicisms24 which may have implications for relevant risk of recurrence.25 In those cases involving these predisposing factors, prospective parents who wish to avoid a child with Downs syndrome could opt for either: (i) PGD or (ii) PND and (as necessary) elective termination. PND for Downs syndrome is available through either chorionic villus sampling (usually conducted at 11 14 weeks of
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21 22 23 24 25
HFEA (n 14) s10.6. M Mikkelsen and J Stene, Previous Child with Down Syndrome and Other Chromosome Aberrations, in JD Murken, S Stengel-Rutkwski and E Schwinger (eds), Prenatal Diagnosis: Proceedings of the 3rd European Conference on Prenatal Diagnosis of Genetic Disorders (Enke, Stuttgart 1979) 22. Cozzi and others (n 17). Conn and others (n 1). CG Pangalos and others, DNA Polymorphism Analysis in Families with Recurrence of Free Trisomy 21 (1992) 51 Am J Hum Genet 1015. Conn and others (n 1). Zhang (n 3). See Cozzi and others (n 17).
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gestation) or with amniocentesis ( performed after 15 weeks). Both methods involve an increased risk of miscarriage of approximately 1 2%.26 The tests are invasive and carry slight risks to the foetus. As such, some reproductive clients nd this route unsatisfactory owing to concerns about: (i) the safety of diagnostic testing during pregnancy; (ii) the risks of miscarriage; and (iii) ethical issues related to potential harms to the foetus.27 There are rare cases of women whose reproductive experience involves repeat pregnancies involving a conceptus affected by trisomy 21.28 Hudson and colleagues reported on a woman who after 2 years of experience with infertility enlisted IVF services and successfully delivered a trisomy 21 infant. The patient then spontaneously conceived another conceptus with Downs syndrome, after which the woman and her husband had their supernumerary embryos (from the initial IVF cycle) genetically tested and screened for trisomy 21. Reportedly, this couple did not consider a voluntary interruption of pregnancy a viable option in their circumstance.29 For this coupleas for others who have the experience of living through the processes of repeat prenatal testing followed by elective termination(s)PGD presented as an acceptable alternative to PND.30 Factor (a2) takes into consideration why certain couples who wish to reproduce might want to enlist PGD treatment services to prevent having a (or another) child with Downs syndrome as opposed to using other alternative methods for doing so. Factor (a1) speaks to the prospective parents subjective views on the condition to be avoided. The HFEA guidance maintains that the only conditions for which PGD should be made available are those where there is a signicant risk of a serious genetic condition.31 Though (as stated above) no ofcial denition of serious has informed either the relevant law or policy, a public consultation document from the Authority explains that: How serious a condition is depends on how having the condition affects, threatens, or limits the life of the individual, although these factors may be difcult to predict before the affected person is born. If the condition did not cause someone to suffer or detrimentally affect their life, the condition is unlikely to be regarded
26 27 28 29 30 31
D Tapon, Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA (2010) 19 J Genet Couns 112 30. S Hartway, A Parents Guide to the Genetics of Down Syndrome (2009) 9 Adv Neonatal Care 27; Tapon (n 26). Cozzi and others (n 17). SB Hudson and others, Preimplantation Genetic Screening in a Case of Recurrent Trisomy 21 Offspring (2009) 91 Fertil Steril 930, 930.e18. Conn and others (n 1); Cozzi and others (n 17); Zhang (n 3). HFEA (n 14) s10.5.

as serious. If, on the other hand, the condition required regular invasive treatment, or was life-limiting or life-threatening, it would be considered serious.32 Requests for PGD come almost exclusively from persons who have either rst-hand experience of the toll of heritable genetic diseases for themselves or of what it is like to live with the risks of being an identied carrier. These persons may also have experience of what it is like to witness the impact the condition in question has on siblings or their own children. Factor (a1) registers the HFEAs concern to acknowledge that the impact of being a carrier of a given genetic condition, can differ both in terms of how an individual might perceive the risk as well as, more practically, the way that the condition will manifest in any particular family.33 As such, the HFEA has acknowledged that, people seeking treatment are in many ways best placed to judge the seriousness of the condition.34 In general, couples at risk of transmitting genetic conditions to their progeny recurrently experience stress, depression, and anxiety.35 Mothers initially often feel guilty about having a child with trisomy 21 and, as is the case for many women, they are blamed by others and/or blame themselves whenever the results of reproduction do not meet with societal norms and expectations.36 Unjust as this is, one study shows that (in time) mothers with Downs syndrome offspring score comparably to parents of non-disabled children in terms of levels of anxiety, feelings of guilt, and emotional burden concerning questions of responsibility for their children being the way they are.37 The emotional and economic investment required for raising a child with a disability are not negligible and have been well documented in the literature. Certain individuals, couples, or families may lack access to needed resources, feel that they do not have the psychological wherewithal to raise a child (or another child) with Downs syndrome, or just prefer not to attempt such an endeavour. In these cases, where from the prospective clients viewpoint Downs syndrome presents as serious,
32
33 34 35 36 37
HFEA, Background to Choices & Boundaries (10 November 2005), s4.3 , http://www.hfea.gov.uk/docs/Choices_and_Boundaries.pdf . accessed 4 December 2010. Ibid. Ibid, s4.4. SA Lavery and others, Preimplantation Genetic Diagnosis: Patients Experiences and Attitudes (2002) 17 Hum Reprod 2464. M Selikowitz, Down Syndrome: The Facts (2nd edn Oxford University Press, Oxford 1997), 7. W Lenhard and others, Psychological Benet of Diagnostic Certainty for Mothers of Children with Disabilities: Lessons from Down Syndrome (2005) 133 Am J Med Genet A 170.
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PGD treatment services may very well relieve anxiety and offer reassurances38 at the earliest possible timereassurance that the prospective offspring, in all probability, will be unaffected by trisomy 21. The question is whether PGD is an appropriate treatment application for addressing this sort of anxiety and need for reassurance. The HFE Act authorises PGD as a treatment service in order to determine that embryos are in a suitable condition to be placed in a woman,39 where treatment services means medical, surgical, or obstetric services provided to the public or a section of the public for the purposes of assisting women to carry children.40 In this regard, the term suitable has been given by the courts both a narrow41 and a wide42 interpretation in the case of R. (Quintavalle) v HFEA. On the narrow interpretation, as discussed by Lord Brown, PGD would be allowable only insofar as it is necessary or desirable43 for screening embryos to determine those that are medically suitable to ensure that the woman can carry the child successfully to termin other words embryonic screening to eliminate just such genetic defects as may affect the viability of the foetus and no other.44 There is some evidence that embryos with numerical chromosomal anomalies, as with trisomy 21, have been signicantly correlated with a higher incidence of implantation failures and repeat pregnancy loss.45 It might seem, then, that embryo screening for these purposes could be justied in reassuring the woman (or couple) that suitable embryos are chosen for implantation, where suitable is taken to mean those that have a better chance at initiating a pregnancy that will result in a live birth. At this point, the literature is inconclusive as to whether PGD in practice either reduces repeat pregnancy loss or IVF failure.46 However, these ndings are mainly based on the results of applying PGD for screening purposes for all-comers to IVF where the population is too varied, and has a low risk of genetic issues, so any effect that one would see with PGD is diluted signicantly. If one were to take only those patients with repeat pregnancy loss who have an identied parental translocation and utilise PGD to screen their
38 39 40 41 42 43 44 45
46
See Lavery and others (n 35); Twisk (n 3). HFE Act 1990. As Amended (2008) (n 6) Sch. 2, s1(1)(d). Ibid, s2(1). R (Quintavalle) v HFEA [2002] EWHC 2785 (Admin), s17. R (Quintavalle) v HFEA [2002] EWCA Civ. 667, s3745; R (Quintavalle) v HFEA [2005] UKHL 28, s14, 2428, 35, 56, 62. HFE Act 1990. As Amended (2008) (n 6) Sch 2, s1(3). Quintavalle [2006] UKHL 28 (n 42), para 49. N Findikli and others, Embryo Aneuploidy Screening for Repeated Implantation Failure and Unexplained Recurrent Miscarriage (2006) 13 Reprod BioMed Online 38. [Anon], Preimplantation Genetic Testing: a Practice Committee Opinion (2008) 90 Fertil Steril S136 43.

embryos, this would probably increase their live birth rate signicantly,47 so the same should be true for those cases involving Downs syndrome carriers. However, on the narrow (i.e. medical) interpretation, it would seem difcult to justify the use of PGD for trisomy 21 as a treatment service against the mothers anxiety at having a child (or another child) with Downs syndrome, unless a causal link were to be established between the anxiety of the mother (or parents) and the viability of the foetus. There is evidence for this connection,48 though some human reproduction experts are sceptical.49 In summary, the evidence is mixed to support PGD, on the narrow (medical) interpretation, as an effective treatment service for anxiety related to repeat pregnancy loss (in this case, for Downs syndrome carriers). One can also read into the statutory purpose specied by section 2(1), that of assisting women to carry children, the notion of healthy childrenonly a genetically healthy embryo being suitable for placing in the woman within the meaning of paragraph 1(1)(d).50 On the wide interpretation of suitability, PGD is allowable as that which provides information about the make-up of the embryo that is relevant in providing assistance to the mother (or couple) for deciding whether or not to endeavour to carry what would be the resulting child.51 As Sheldon comments: The embryo to be implanted must be judged suitable not just in narrow medical terms (in its ability to develop into a healthy child) but also taking account of the wishes of the mother.52 In this light, a womans (or couples) anxieties regarding what it would mean to have a child with trisomy 21 and the perception of what kind of impact doing so might have on the family could be deeply relevant as a factor in considering the appropriateness of PGD for a case of Downs syndrome. But to state the obvious, it is important to notice that no evidence taken by way of factor (a1) here could count as reasons for viewing Downs syndrome as in principle a serious genetic
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50 51 52
JE Mersereau and others, Preimplantation Genetic Screening to Improve in vitro Fertilization Pregnancy Rates: a Prospective Randomized Controlled Trial (2008) 90 Fertil Steril 1287. K Nakamura, S Sheps and PC Arck, Stress and Reproductive Failure: Past Notions, Present Insights and Future Directions (2008) 25 J Assist Reprod Genet 47. AM Bergant and others, Spontaneous Abortion and Psychosomatics (1997) 12 Hum Reprod 1106; MP Milad and others, Stress and Anxiety Do Not Result in Pregnancy Wastage (1998) 13 Hum Reprod 2296. Quintavalle [2005] UKHL 28 (n 42) para 51. See ibid, paras 49, 60, and 62. S Sheldon, Saviour Siblings and the Discretionary Power of the HFEA (2005) 13 Med L R, 403, 408. See Quintavalle [2002] EWCA Civ. 667 (n 42) para 128.
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condition. Insteadand also obviousfactor (a1) speaks to that which could make Downs syndrome a serious genetic condition for the parents as based on their particular subjective views, personal beliefs, and psychology.53
B. Effective Therapies
(c) the availability of effective therapy, now and in the future54 Assessing the relevant evidence with respect to factor (c) is difcult since the term effective therapy is used without a denition in the Code of Practice (8th edition). Interestingly, the Joint Working Party of the HFEA and the Human Genetics Commission (HGC) originally recommended a more inclusive wording, stating that: the availability of effective therapy or management now and in the future be taken into account when determining the appropriateness of PGD for any given condition.55 Downs syndrome is a chronic condition that presents from birth. Because there is neither a known cure for it, nor are there any probable, prospective cures in sight at this time, most treatments aim to either control or mitigate adverse symptoms and to manage co-morbidities. It cannot be ignored that there are distinct medical challenges that come with Downs syndrome. For some parents, the health status of having a child with Downs syndrome can be a source of uncertainty, most notably in the rst years of an affected childs life.56 The health conditions faced by persons with Downs syndrome can include: cardiac birth defects; congenital heart disease; hearing problems; gastrointestinal blockages; celiac disease; eye problems (e.g. cataracts); hypothyroidism; skeletal problems (e.g. hip dislocation); dementia; and a higher risk for acute lymphocytic leukaemia.57 Interestingly, a longitudinal study by Carr that compared health at ages 4, 11 and 21 of persons with Downs syndrome with matched controls concluded that:
53 54 55
56 57
Quintavalle [2005] UKHL 28 (n 42), paras 27 and 61. HFEA (n 14), s10.6. HFEA and HGC, Outcome of the Public Consultation on Preimplantation Genetic Diagnosis (November 2001) s37, recommendation 15 (emphasis added). M van Riper, What Families Need to Thrive (15 May 2008) , http://www. downsyn.com/thrive.php . accessed 4 December 2010. MedlinePlus Medical Encyclopedia, Down Syndrome (20 April 2005) , http://www.nlm.nih.gov/medlineplus/downsyndrome.html . accessed 4 December 2010; E Kennedy Shriver, Down Syndrome (16 February 2007) , http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm . accessed 4 December 2010.

the Downs syndrome group were not more often ill than were the controls, although, as Turner et al. 58 also show, illnesses tended to be more serious, especially in the profoundly disabled group. A small number suffered from multiple health problems and very poor health; nevertheless, compared with the controls they did not as a group make excessive demands on family or hospital doctors. Most of those with Downs syndrome, like the controls, maintained good health over time, and in both groups poor health as a child did not necessarily presage poor health in adulthood.59 A recent, comprehensive review by Roizen and Patterson has shown that effective medical management of the health conditions associated with Downs syndrome is possible through organised assessment, monitoring, prevention, and vigilance.60 A major indication of improved quality of life for persons with Downs syndrome has been dramatic gains in the average life expectancy over the course of the past century, as accompanied by better overall health. A study that surveyed the survival trends from 1942 to 1997 of infants with Downs syndrome in developed countries (including the UK) observed an 87.8% life expectancy improvement.61 Whereas in 1910 the average life expectancy for this population in the UK was about 9 years,62 today it is between 50 and 60 years.63 Many of these gains in life expectancy are thought to be due to advances in knowledgeable medical care (e.g. cardiac surgery) and in general health management,64 but other factors point to changes in
58 59 60
61 62 63 64
R Turner and others, Health Problems in Children with Downs Syndrome (1990) 16 Child Care Health Dev 83. JH Carr, Downs Syndrome: Children Growing Up (Cambridge University Press, Cambridge 1995), 115. NJ Roizen and D Patterson, Downs Syndrome (2003) 361 Lancet 1281. Nonetheless, studies show that access to healthcare services can be a greater challenge for persons with intellectual disabilities (including persons with Downs syndrome) on account of their learning and communication challenges, as well as healthcare providers beliefs and attitudes. See SA Cooper, C Melville and J Morrison, People with Intellectual Disabilities (2004) 329 BMJ 414; P Raji and others, Offering Health Checks to People with Intellectual Disabilities As Part of Medical Students Primary Care Course (2009) , http://www.intellectualdisability.info/how-to../offering-health-checks-to-people-with-intellectual-disabilities . accessed 4 December 2010. G Viola and A Rosano, Time Trends of Survival among Infants with Downs Syndrome (2005) 31 Ital J Pediatr 254. Mothers 35 Plus, Down Syndrome (2010) , http://www.mothers35plus.co. uk/down.htm . accessed 4 December 2010. Downs Syndrome Association, Key Facts (2009) , http://www.downs-syndrome.org.uk/news-and-media/key-facts.html . accessed 4 December 2010. Ibid.
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the social determinants of healthincluding mental health65for persons with Downs syndrome.66 A study that analysed (by racial grouping) the death certicates of Downs syndrome Americans found the average median age at death in 1997 to be 50 years for Caucasians, 25 years for African Americans, and 11 years for other races (including Asians, Hispanics, and First Nations Americans).67 Friedman noted two factors that could explain the limited improvement in median age at death for the American racial minority groups in this study: (i) the frequency of life-threatening malformations and (ii) differences in social factors and care68 provided.69 According to Friedman, there is no evidence that those persons with Downs syndrome from the indicated racial minorities were at greater risk of life-threatening malformations.70 He concluded, saying: Because differences in ascertainment or severity probably do not explain these observations, differences in care received by persons with Downs syndrome might explain racial disparity in survival. Possibilities include differences in factors that may be associated with improved health in the general population such as socioeconomic status, education, community support, medical or surgical treatment of serious complications, or access to, use of, or quality of preventative health care. A combination of factors seems likely, as appears to be the case for racial disparity in mortality in the U.S. population in general.71 In summary, the evidence given in the literature shows that for Downs syndrome72 effective therapies are now available. Questions of access73 to these therapies now and providing for them to be available in the future, while posing challenges not to be underestimated, are
65 66
67 68 69
70 71 72 73
SH Ailey and others, Evaluating an Interpersonal Model of Depression among Adults with Down Syndrome (2006) 20 Res Theory Nurs Pract 229. Q Yang, SA Rasmussen and JM Friedman, Mortality Associated with Downs Syndrome in the USA From 1983 to 1997: a Population-based Study (2002) 359 Lancet 1019, 10223. Ibid. See SA Rasmussen and others, Survival in Infants with Down Syndrome, Metropolitan Atlanta, 19791998 (2006) 148 J Pediatr 806. JM Friedman, Racial Disparities in Median Age at Death of Persons with Down SyndromeUnited States, 19681997 (2001) 50 MMWR Morb Mortal Wkly Rep 463. Ibid. Ibid, 465. See P Alderson, Prenatal Screening, Ethics and Downs Syndrome: a Literature Review (2001) 8 Nurs Ethics 360. See R Jenkins and R Davies, Neglect of People with Intellectual Disabilities (2006) 10 J Intellect Disabil 35.

obviously matters that can be addressed by way of social reforms, political will, and economic commitment.74
C. Intellectual Impairments
(e) the extent of any intellectual impairment75 Determining the relevant evidence that applies in the case of factor (e) is challenging since nowhere in the Code of Practice is intellectual impairment dened. Clinically speaking, Downs syndrome is classied as a form of mental retardation. Degrees of mental retardation are conventionally measured according to standardised intelligence tests. Individuals who test consistently below the intelligence quotient (IQ) level of (usually) 70 are classied as retarded. Persons with Downs syndrome are expected to have moderate-to-severe mental retardation, with an IQ of 20 85 (mean score, approximately 50).76 This means that 50% or more of this population function in the mild (IQ 50 69) or moderate (IQ 35 49) range of intellectual disability. Some have just a borderline degree of intellectual disability, while a minority has severe (IQ 20 25 to 35 40) intellectual disability.77 The average estimated intelligence of persons with Downs syndrome has been steadily increasing since the early 20th century. At that time, persons with Downs syndrome were initially regarded as profoundly mentally retarded (i.e. IQ , 20).78 According to CluniesRoss, combined surveys of Downs syndrome children and adults from the rst half of the century showed notable, widespread gains with most being classied as severely mentally retarded (IQ 20 34).79 By the 1960s, reports estimated that 10% of cases were regarded as mildly retarded; by the mid-1970s,80 these estimates increased to the point that researchers were suggesting that as many as 30 50% of older Downs syndrome children and adults were within the mild range for mental retardation, and even a few were thought to be within the normal range for intelligence.81 Borthwick, whose study analyses the above trends, observes that in the
74 75 76 77 78 79 80 81
Ibid. HFEA (n 14) s10.6. H Chen, Down Syndrome (22 March 2010) , http://emedicine.medscape. com/article/943216-overview . accessed 4 December 2010. Selikowitz (n 36) 117. D Gibson, Downs Syndrome (Cambridge University Press, London 1978), 35 7. GG Clunies-Ross, The Development of Children with Downs Syndrome (1986) 22 Aust Paediatr J 167. Ibid. C Cunningham and C Cunningham, Down Syndrome: an Introduction for Parents and Carers (3rd revised edn Souvenir Press, London 2006).
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space of only 60 years, these developments represent a general shift in the Downs syndrome mean of some 30 IQ points, from an average IQ of approximately 15 20 to an average IQ of, depending on the study, between 40 and 60.82 These ndings are in some tension with: (i) a common stereotype that individuals with Downs syndrome are unintelligent, incapacitated and incapable of social function83 and (ii) the perception of mental retardation as a permanent, unmodiable trait attributable almost exclusively to physical causes84a prejudicial viewpoint that has been shown to foster community reactions of hopelessness, helplessness, and rejection.85 There are several reasons to explain the stigma concerning the developmental potential of persons with Downs syndrome. Until the 1960s, effective education and training were rarely provided to persons with Downs syndrome, in part owing to the prevalent view thenand all too commonly still with usthat intelligence is a natural endowment, genetically determined and immutable, thus distinguishing those with mental retardation in a fundamental sense from the rest of the population.86 As Clunies-Ross surmises: In this climate, institutionalization seemed an appropriate alternative, but unfortunately the clients became a self-fullling prophecy. Little was expected of them, so they were taught little and therefore achieved little.87 Only once the belief in xed intelligences came to be challenged, did researchers come to view experience and environment as having a major impact on cognitive development in infants and children.88 For some time now it has been widely agreed that the developmental characteristics of Downs syndrome children are extremely variable and that motor, mental, and social development is faster for those raised at home than in institutions.89 Connolly (among others) in a study involving non-institutionalised children with Downs syndrome, has also observed the signicant advantaging effects of early intervention
82 83
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85 86 87 88 89
C Borthwick, Racism, IQ and Downs Syndrome (1996) 11 Disabil Soc 403, 407. C Uzoigwe, Life Goes on with Chris Burke (7 December 2008) , http://scienticaesthetic.com/2008/12/07/life-goes-on-with-chris-burke. html . accessed 4 December 2010. JF Goodman, Does Retardation Mean Dumb Childrens Perceptions of the Nature, Cause, and Course of Mental-Retardation (1989) 23 J Spec Educ 313, 314. EE Jones, Social Stigma (W.H. Freeman, New York 1984). Borthwick (n 83). Clunies-Ross (n 80) 167. Ibid. SA Centerwall and WR Centerwall, A Study of Children with Mongolism Reared in the Home Compared to Those Reared away from the Home (1960) 25 Pediatrics 678 cited in Clunies-Ross (n 80).

programming to enhance intellectual and adaptive functioning in said children when compared with age-matched controls.90 In the late 1980s, Carr conducted a longitudinal study that involved Downs syndrome research participants (aged 6 weeks to 21 years old) as well as their families. Carr found that where verbal and academic skills are concerned there appear to be clear environmental effects, with the young people from more [socio-economically] advantaged backgrounds doing signicantly better than those from the less advantaged [backgrounds].91 Carrs study did not control for how much deliberate teaching was imparted by the parents of the advantaged children, but her anecdotal impressions lead her to conjecture that: the inuences at work seem likely to be the more subtle ones of atmosphere and expectations, of availability of relevant materialsbooks, newspapers, magazinesof modelling of skills by other family members and of the opportunity to join in with skill-related activities.92 The intellectual impairments of persons with Downs syndrome may also be overstated due to confounding co-morbidities or other limiting physical impairments.93 Turner and colleagues have noted that up to 77% of this population have some visual impairments and 62% experience hearing loss.94 At the same time, cognitive functioning and learning disabilities are known to be masked by such physical impairments,95 and very little work has been done to sort out the effects of this for assessing the intellectual capacities of persons with Downs syndrome.96 There is some evidence that this population experience more rapid cognitive deterioration than typically developing persons.97 But as Carr cautions: . . . it is unsafe to attempt dogmatic prediction about the future developmental level of any individual with Downs
90
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93 94 95 96 97
BH Connolly, S Morgan and FF Russell, Evaluation of Children with Down Syndrome Who Participated in an Early Intervention Program. Second Follow-Up Study (1984) 64 Phys Ther 1515 cited in Clunies-Ross (n 80). J Carr, Six Weeks to Twenty-One Years Old: a Longitudinal Study of Children with Downs Syndrome and Their Families (1988) 29 J Child Psychol Psychiatry 407, 424. Ibid, 425. See EM Dykens, Psychiatric and Behavioral Disorders in Persons with Down Syndrome (2007) 13 Ment Retard Dev Disabil Res Rev 272, 276. C Gillberg and H Soderstrom, Learning Disability (2003) 362 Lancet 811, 815. Turner (n 58). S Carvill, Sensory Impairments, Intellectual Disability and Psychiatry (2001) 45 J Intellect Disabil Res 467. Borthwick (n 83) 407 8. A Coppus and others, Dementia and Mortality in Persons with Downs Syndrome (2006) 50 J Intellect Disabil Res 768.
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syndrome.98 Gillberg and Soderstrom in one study, and Burt and colleagues in another,99 found that Downs syndrome research participants with an increased IQ tended to experience less cognitive deterioration than matched controls with lower IQ scores. Given that IQ may be associated with level of education, Gillberg and Soderstrom hypothesised that improving cognitive functioning could be useful for deferring the onset of dementia. Their study also associated good caregiver support . . . with a slower decline in cognitive abilities in Downs syndrome.100 Oliver and colleagues further established that: When age was controlled for, cognitive deterioration was signicantly positively associated with caregiver difculties and service use and negatively associated with life experiences for the individual. Results suggest a potential role for caregiver difculties in inuencing life experiences of adults with Downs syndrome showing cognitive decline.101 Hence, it is evident that various confounding, contingent, situational, or environmental factorsmany of which can be corrected for, according to a growing body of evidenceare implicated in the overall course of intellectual development and cognitive capacities of persons with Downs syndrome. The effects of intellectual impairments for persons with Downs syndrome have thus been exaggerated through history, and the differences in cognitive functioning as measured by IQ can be accounted for (at least) in part by social deciencies unrelated to what the standard classication describes as signicantly subaverage general intellectual functioning.102 Borthwick further argues that just as racial minorities have been unfairly disadvantaged on IQ testing, so also prejudice against persons with Downs syndrome is likely to unfairly disadvantage this population on IQ testing with the effect of yielding inaccurate and spuriously depressed scores.103 He suggests that people with Downs syndrome may be, precisely, handicapped, as racehorses are handicapped that they carry lead in their saddlebags from the effects of prejudice and physical disability, and if it was possible to remove these then they would be expected to come further up the list of nishers than they do.104
98
99 100 101
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Carr (n 92) 423. See also SA Cooper, High Prevalence of Dementia among People with Learning Disabilities not Attributable to Downs Syndrome (1997) 27 Psychol Med 609. DB Burt and others, Aging in Adults with Down Syndrome: Report From a Longitudinal Study (1995) 100 Am J Ment Retard 262. Gillberg and Soderstrom (n 94) 818. C Oliver and others, Cognitive Deterioration in Adults with Down Syndrome: Effects on the Individual, Caregivers, and Service Use (2000) 105 Am J Ment Retard 455. Borthwick (n 83) 404. Ibid, 403 10. Ibid, 408.

In all likelihood then, some of the developmental gains and greater ability to overcome impairments in the Downs syndrome population (as noted above) are probably owing to early intervention strategies105 and changes to educational programming.106 Some of these notable changes to educational programming have involved shifting away from the custodial, management model of care set in the context of segregated institutions and instead aiming at broader goals of social inclusion107 with more attention to the specic learning styles and motivational factors of individuals with Downs syndrome.108 Although persons with Downs syndrome face undeniable intellectual challenges on account of having certain intellectual impairments, the above evidence shows that the source and degree of the consequent experience of disability is contingent upon several social and environmental variablesvariables that can be addressed to substantially obviate, or at least mitigate, the potential for disability associated with Downs syndrome.
D. Associated Suffering 1. Associated Suffering from the Perspective of the Individual

(b) the likely degree of suffering associated with the condition109 The expected suffering associated with a given condition is likely one of the factors most weighted in decisions considering the appropriateness of PGD. All lives assuredly will involve some suffering. The question before us is whether a life with Downs syndrome involves risk of undue suffering. I look at this question rst by assessing the relevant evidence as given from the perspective of the individual, and then, in the next section, from the familys perspective of living and supporting a family member with Downs syndrome. Currently, there are no large studies on how people living with Downs syndrome judge the quality of their own lives,110 though
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106 107
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109 110
M Cuskelly, P Hauser-Cram and M van Riper, Families of Children with Down Syndrome: What We Know and What We Need to Know (2009) 12 Down Syndrome Res Practice 105, 108 9. P Alderson and C Goodey, Enabling Education: Experiences in Special and Ordinary Schools (Tufnell, London 1998). S Buckley and others, A Comparison of Mainstream and Special Education for Teenagers with Down Syndrome: Implications for Parents and Teachers (2002) 2 Down Syndrome News Update 46. Alderson and Goodey (n 107); J Wishart, Motivation and Learning Styles in Young Children with Down Syndrome (2010) 7 Down Syndrome Res Practice 47. HFEA (n 14) s10.6. S Buckley, Living with Down Syndrome (2000) , http://www. down-syndrome.org/information/development/overview/ . accessed 4 December 2010.
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some smaller qualitative studies have been conducted involving interviews with individuals from this population.111 Anecdotal reports conrm that said persons do not consider having the condition (itself ) to be a source of suffering,112 nor that their lives on this account are seriously limited,113 onerous, or handicapped.114 Instead, amongst relevant interviewees and advocates a prevalent impression voiced is that societys behaviour in response to them is seen as a primary source of what suffering there is in their lives in the forms of prejudice and social discrimination.115 It might be objected that the rst-person accounts in these studies and testimonials come from select individuals who areas some researchers describehigh functioning and therefore not representative of those that face more profound communication barriers. Admittedly, personal life satisfaction assessments for nonverbal persons with Downs syndrome point to a lacunae in the research and literature, even though, as Alderson points out: research through interactions and observations with people who do not speak about their quality of life [is possible and] can be very informative.116 This is not to diminish the challenges (from a rst person perspective) of a life with Downs syndrome,117 but rather to point out that the experience of a life with Downs syndrome is not co-extensive with a life of suffering. More on point research is needed in this respect.118 2. Associated Suffering from the Perspective of the Family, as well as the Impact of Social Supports and Family Circumstances (b) the likely degree of suffering associated with the condition (f ) the social support available, and (g) the family circumstances of the people seeking treatment.119 Over the past decade, the HFEA has come to give more weight to families experiences and their perceptions of the gravity of genetic
111 112
113 114 115
116 117 118 119
Ailey (n 66); P Alderson, Downs Syndrome: Cost, Quality and Value of Life (2001) 53 Soc Sci Med 627. Alderson (n 112); Buckley (n 111); J Kingsley and M Levitz, Count Us in: Growing Up with Down Syndrome (Harcourt Brace & Co, New York 1994). C Burke and JB McDaniel, A Special Kind of Hero: Chris Burkes Own Story (Doubleday, New York 1991). Kingsley and Levitz (n 113) 35. Alderson (n 112); M Paez, Perspective, in L Nadel and others (eds), Down Syndrome: Living and Learning in the Community (Wiley-Liss, New York 1995), 60. Alderson (n 112) 636. Dykens (n 93). Alderson (n 112). HFEA (n 14) s10.6.

conditions in determining the appropriateness of PGD.120 The suffering associated with Downs syndrome is therefore not only to be evaluated according to the interests of the child/individual-to-be, but also according to the collateral effectsincluding perceived effects, as with factor (a1)that bear on the interests of the whole family. In this regard, on a wider scale, the oftentimes presumed negative impact of disabilities on families quality of life is coming under scholarly and political challenge as unjustied in the face of a rising body of evidence, showing the contrary from research on families with children with impairments.121 More specically, psychological proles and functioning measures of families of children with Downs syndrome are reported as being (for the most part) very similar to their relevant, so-called normal, counterparts.122 I turn now to assess the specic evidence of the experience of families who live with, and care for, members who have Downs syndrome, and to highlight aspects of their circumstances and available supports that have a signicant bearing on the varied character of this experience. It is common for parents to experience a sense of disappointment if their foetus or newborn is diagnosed with Downs syndrome. Nevertheless, most parents to infants with Downs syndrome become attached within a few months following birth.123 King and colleagues reported that while parents of Downs syndrome children grappled with lost dreams, over time, through changing their belief systems concerning life, disability, and the family, most reported increased feelings of empowerment, personal growth, and rearrangements of priorities as instances of positive adaptations to parenting a child with a disability.124 Van Riper conducted a study in 2007 that used the Resiliency Model of Family Stress, Adjustment and Adaptation to assess maternal perceptions of parental and family adaptation in families of children
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HFEA, Choices & Boundaries Report 2006 (2006) , http://www.hfea.gov. uk/docs/Choices_and_boundaries_Report_2006_summary.pdf . accessed 4 December 2010. PM Ferguson, Mapping the Family: Disability Studies and the Exploration of Parental Response to Disability in GL Albrecht, KD Seelman and M Bury (eds), Handbook of Disability Studies (Sage Publications, Thousand Oaks, CA 2001) 373; PM Ferguson, A Gartner and DK Lipsky, The Experience of Disability in Families, in E Parens and A Asch (eds), Prenatal Testing and Disability Rights (Georgetown University Press, Washington, D.C. 2000) 72; MW Krauss, Child-related and Parenting Stress: Similarities and Differences between Mothers and Fathers of Children with Disabilities (1993) 97 Am J Ment Retard 393. For references, see R Scott, Prenatal Testing, Reproductive Autonomy, and Disability Interests (2005) 14 Camb Q Healthc Ethics 65, 68; Ferguson and others (n 122) 81, 85. Roizen and Patterson (n 60). GA King and others, A Qualitative Investigation of Changes in the Belief Systems of Families of Children with Autism or Down Syndrome (2006) 32 Child Care Health Dev 353.
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with Downs syndrome. Seventy per cent of the seventy-six mothers polled reported their overall family functioning as either 4 or 5 on a 5-point scale (1 poor; 5 excellent).125 Hodapp and colleagues found no signicant difference between parents of Downs syndrome children and parents of typically developing children with respect to their perceptions of the rewards of parenting their children.126 Cuskelly and colleagues actually found that mothers of a child with Down syndrome reported signicantly more reinforcing aspects to their relations with their children than did mothers to typically developing children.127 Parents who raise children with Downs syndrome are often very aware of the prevalent and persistent effects that the childs unique needs can have on siblings.128 In this regard, various studies have reported on parents who testify to the benets of having a Downs syndrome child for their other children.129 Children with Downs syndrome, for instance, manifest characteristics that have worked to maintain and develop relations between family members and signicant others outside the family.130 Cuskelly and Gunn found that siblings of children with Downs syndrome reported less unkindness and, if in a same-sex dyad, more empathy than did comparison children.131 In a very recent review article, Cuskelly and colleagues conclude that: ndings suggest that there are no important differences in the adjustment of the siblings of a child with Downs syndrome and children in families where all are developing typically and that relationships are as good as, or better, than in these families.132 Research has also shown that (neurotypical) siblings to Downs syndrome relations have favourable self-concepts.133 Carr found that these siblings did not feel themselves unduly burdened by having a
125 126 127 128
129
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132 133
M van Riper, Families of Children with Down Syndrome: Responding to a Change in Plans with Resilience (2007) 22 J Pediatr Nurs 116. RM Hodapp and others, Less Stress, More Rewarding: Parenting Children with Down Syndrome (2001) 1 Parenting 337. M Cuskelly and others (n 106) 107. S Mulroy and others, The Impact of Having a Sibling with an Intellectual Disability: Parental Perspectives in Two Disorders (2008) 52 J Intellect Disabil Res 216. Cuskelly and others (n 128); BG Skotko and SP Levine, What the Other Children Are Thinking: Brothers and Sisters of Persons with Down Syndrome (2006) 142 Am J Med Genet C Semin Med Genet 180. J Poehlmann and others, Family Experiences Associated with a Childs Diagnosis of Fragile X or Down Syndrome: Evidence for Disruption and Resilience (2005) 43 Ment Retard 255. M Cuskelly and P Gunn, Sibling Relationships of Children with Down Syndrome: Perspectives of Mothers, Fathers, and Siblings (2003) 108 Am J Ment Retard 234, 234. Cuskelly and others (n 128) 107. M van Riper, Family Variables Associated with Well-Being in Siblings of Children with Down Syndrome (2000) 6 J Family Nurs 267.

brother or a sister with Downs syndrome.134 Skotko and Levine, in a recent widespread study of siblings to persons with Downs syndrome, found that said siblings reported a wide range of emotions and that, on balance, the positive feelings were experienced as outweighing the negative ones. The researchers concluded that siblings nd rich value in having a family member with Downs syndrome, and most will assume positions of advocacy at some level in their lives.135 Although adverse effects are less than might be expected by many parents and siblings, there are denite challenges for families with one or more members who have Downs syndrome.136 Brown and colleagues observed that families with members who have a disability registered lower quality of life with respect to measures of health, social support, nances, and career opportunities when compared with families with only typically developing children.137 Carr reports that especially mothers to children with Downs syndrome carry signicant burdens with respect to poorer health, reports of more depression and, most signicantly, their Malaise Scale scores were higher than matched controls.138 Building from the work of Ferguson and Watt,139 Carr also noted a signicant relation between Malaise Scale scores and social classan association that presented as more closely related than between Malaise Scale scores and the level of the Down syndrome childs disability. Neither Bradshaw140 nor Carr and colleagues141 in previous studies were able to signicantly associate Malaise Scores with a number of objective factors, including the childs level of disability or measures of social restriction.142 More recently, van Riper found a signicant association between these factors and the relevant mothers perceptions of the quality of support they and their children with Downs syndrome received from the professionals that were charged to work with them.143
134 135 136 137 138
139 140 141 142 143
Carr (n 92). Skotko and Levine (n 130) 180. M Cuskelly and P Gunn, Maternal Reports of Behavior of Siblings of Children with Down Syndrome (1993) 97 Am J Ment Retard 521. RI Brown and others, Family Quality of Life When There Is a Child with a Developmental Disability (2006) 3 J Policy Practice Intellect Disabil 238. Carr (n 92). See also P Sloper and others, Factors Related to Stress and Satisfaction with Life in Families of Children with Downs Syndrome (1991) 32 J Child Psychol Psychiatry 655. N Ferguson and J Watt, The Mothers of Children with Special Educational Needs (1986) 12 Scottish Educ Rev 31. J Bradshaw, The Family Fund: An Initiative in Social Policy (Routledge & Kegan Paul, London 1980). J Carr, A Pearson and M Halliwell, The Effect of Disability on Family Life (1983) 38 Z Kinderchir 103. Carr (n 92). M van Riper, Maternal Perceptions of Family-Provider Relationships and Well-Being in Families of Children with Down Syndrome (1999) 22 Res Nurs Health 357.
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More generally, patterns of parental stress are reported to track gender distinctions in families whose members include children with disabilities (also including those with Downs syndrome children).144 Roach and colleagues have observed that parents of children with Downs syndrome perceived more care-giving difculties, child-related stress, and parent-related stress than did matching controls of parents with typically developing children. While mothers stress tracked experiences of difculty related to responsibilities of caring, fathers stress tracked experiences of difculty related to accepting their Downs syndrome childrens group status as non-normal or disabled.145 Those mothers who assumed disproportionately higher care-giving duties reported more difculties with their own health, sense of autonomy (i.e. role restriction), and partner support. Conversely, fathers who assumed more responsibility for relevant childcare reported not only fewer difculties with attachment but also a greater sense of parental competence. Spousal stress correlated with both mothers and fathers stress.146 This study suggests that distribution of responsibility for care, if realigned to avoid gender stereotypeswhere mothers assume disproportionately higher responsibilities for care of children147can signicantly impact the experience of stress associated with raising a child with Downs syndrome. Hodapp has observed that most studies focussing on families experiences of having a member with Downs syndrome examine only parental or sibling levels of stress and coping strategies. Increased attention is needed to determine the effects of spousal, occupational, health, educational, and other socio-economic outcomes for family members.148 In this regard, more generally, the prevalent impact of the social determinants of health is well known,149 and has an over-riding impact on the health and well-being of parents to children with intellectual disabilities.150 Hodapp concludes the above-mentioned study, saying:
144 145
146 147 148
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Krauss (n 122); Sloper and others (n 139). MA Roach, GI Orsmond and MS Barratt, Mothers and Fathers of Children with Down Syndrome: Parental Stress and Involvement in Childcare (1999) 104 Am J Ment Retard 422. See also Sloper and others (n 139). Ibid. Cuskelly and Gunn (n 137). RM Hodapp, Families of Persons with Down Syndrome: New Perspectives, Findings, and Research and Service Needs (2007) 13 Ment Retard Dev Disabil Res Rev 279. R Mykitiuk and JA Nisker, Social Determinant of Health of Embryos, in J Nisker and others (eds), The Healthy Embryo: Social, Biomedical, Legal, and Philosophical Perspectives (Cambridge University Press, Cambridge 2010), 116. E Emerson and others, Socio-Economic Position, Household Composition, Health Status and Indicators of the Well-Being of Mothers of Children with and without Intellectual Disabilities (2006) 50 J Intellect Disabil Res 862.

Although Downs syndrome families have received some research attention over the past several decades, we now need to make family research in Downs syndrome more concrete, more life-span, and more tied to characteristics of the individual with the syndrome and the familys surrounding support system.151 In summary, the parental experience of raising a child with Downs syndrome, as well as the experience of living as, and with, a Downs syndrome family member, is of course variable. As reported in the literature, family circumstances, the level of social supports that are made available to the relevant families,152 and other social factors153 can be reformed to either mitigate or obviate much of the relevant individuals and families experiences of suffering and/or compromises to their quality of life.154 The latter point speaks directly to whether Downs syndrome ought to be considered a serious genetic condition. We might be better off asking just how much of the challenges associated with Downs syndrome as a disability are in fact contingent on situational factors, and for which the resulting disadvantage could be alleviated signicantly, if not done away with altogether, in environments with different social structures, supports, and values.
IV. DISABILITY: THE REALITIES OF FUNCTIONAL LIMITATION AND CONDITIONS OF SOCIAL DISADVANTAGE
As stated before, the suffering associated with Downs syndrome is a most signicant consideration in gauging whether or not PGD is an appropriate intervention so as to prevent the birth of children with this genetic condition. The extent of expected suffering is one concern; the likelihood of suffering is yet another. And, obviously, the likelihood and extent of suffering are related to the different kinds and different sources of disability associated with Downs syndrome. Clarifying this relation is important for understanding some of the reasons and overt pressures that could propel (and perhaps compel) parents to consider PGD as a way to avoid the risks of having aor anotherchild with Downs syndrome.
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Hodapp (n 149) 279. Ailey (n 66); WN Friedrich, LT Wilturner and DS Cohen, Coping Resources and Parenting Mentally-Retarded Children (1985) 90 Am J Ment Dec 130. Sloper and others (n 139). Alderson (n 112); R Brown, Down Syndrome and Quality of Life: Some Challenges for Future Practice (1994) 2 Down Syndrome Res Practice 19.
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It is a reality that persons with Downs syndrome face all sorts of disadvantages. Broadly speaking, many of these disadvantages can be seen as a product of their interaction with society as persons with functional limitations. Hull explains this relation, saying: Without societys being as it is, peoples functional limitations would be different, no less than society would be without people with functional limitations.155 Models of disability, as Scott aptly observes, not only affect our perception of disability, but they also affect the desirability of avoiding it.156 In the literature, the distinction is drawn between the medical and the social models of disability. On the medical model, disability marks a disadvantage stemming from impairment(s)a restriction or lack of ability to perform normal human activities.157 Briey put, medical models of disability tend to locate the source of disability in what is understood as the inherent loss of functioning owing to physical or intellectual impairments in the individual. Medical models counsel the investigation and delivery of effective forms of medical treatment for affected individuals impairments. Medical models also put a great deal of emphasis on disease/disorder prevention.158 On the other hand, social models of disability (in general) emphasise the distinction between having impairments and being disabled,159 such that functional limitation or impairment does not guarantee disadvantage.160 Social models argue that the main sources of disability reside in the ways that society is structured to exclude, or insufciently accommodate, the different needs of persons with impairments.161 Most theorists who uphold social models maintain that whether an impairment results in a disability is dependent on the character of the environment in which the individual lives. For these theorists, while disability is social in nature, impairments are not.162 Contrastingly, medical models of disability tend to locate disability within the individual.
155 156 157
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R Hull, Dening Disability: a Philosophical Approach (1998) 4 Res Publica 199, 203. Scott (n 123) 66. R Cohon, Disability: I. Ethical and Societal Perspectives in SG Post (ed), Encyclopedia of Bioethics (3rd edn, Macmillan Reference USA, New York 2004), 655. Ibid; L Waddington, Disability, Employment, and the European Community (Maklu, Antwerpen 1995), 33. M Oliver, Dening Impairment and Disability in C Barnes and G Mercer (eds), Exploring the Divide: Illness and Disability (Disability Press, Leeds 1996), 39; SM Reindal, Disability, Gene Therapy and Eugenicsa Challenge to John Harris (2000) 26 J Med Ethics 89. Hull (n 156). Reindal (n 160); Waddington (n 159) 34. As discussed by Scott (n 123) 66.

Critics of the social model of disability could maintain that (surely) not all problems of functionality that characterise a life with Downs syndrome are due to inadequacies of social response.163 These same critics could make a strong case that the phenotype for Downs syndrome is variable,164 and that, at minimum, certain expressions of the genotype are not completely benign or neutral, but would entail disability even in the most supportive, social environments. From this viewpoint, persons born with Downs syndrome risk losses that are different from being just socially disadvantaged. Even exponents of the social model of disability like Shakespeare165 have done much to clarify the limitations of a (sometimes) extreme social constructionist interpretation of disability that problematically underplays the relevance of medicine for understanding (and redressing) how impairments can circumscribe functionality and agency.166 Shakespeare owns that some impairments in and of themselves present signicant problems.167 His objection to the social model is that it fails to capture the complexity of disabled peoples lives.168 Rather than treating all disability as one classeither medical, or socialShakespeare suggests that disabled people should debate the differential impact of impairment.169 Instead seeking a one size ts all judgment on whether disabilities are socially constructed or whether their source points ultimately to some inherently limiting medical condition, what could be useful though admittedly this also risks being politically divisiveis a consideration of the particular cases of disabilities in their plurality of expressions and plurality of sources of functional limitation. In the case of Downs syndrome under discussion here, it would seem that the weight of the evidence indicates that (for the most part) that which is disabling about the impairments that come with this condition are socially induced and many (though not all) are socially remediable. There is no doubt that persons with Downs syndrome, as part of the broader populace of disabled persons in the UK, are critically disadvantaged, but this too is not the whole story. As Hull explains:
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166 167 168 169
Ibid, 67. SE Antonarakis and others, Chromosome 21 and Down Syndrome: From Genomics to Pathophysiology (2004) 5 Nat Rev Genetics 725. To be more accurate, Shakespeare has been throughout his career both an exponent and a strong critic of the social model of disability. See T Shakespeare, Disability Rights and Wrongs (Routledge, London 2006), 56. Ibid; T Shakespeare, Debating Disability (2008) 34 J Med Ethics 11. Shakespeare (n 167) 13. Ibid, 11. Scott (n 123) 69 citing T Shakespeare, Choices and Rights: Eugenics, Genetics and Disability Equality (1998) 13 Disabil Soc 665, 670.
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Conventional views of disability, while acknowledging the social manifestation of many disadvantages, tend to assume that since they would not arise in the absence of functional limitation, then those disadvantages must, and unproblematically, originate in functional limitation.170 But, so long as persons with Downs syndrome (and their families) are included in the major gap between the disabled and nondisabled in terms of education,171 income,172 housing, employment,173 social participation,174 and access to healthcare services,175 then it makes no sense to assume that Downs syndrome as a genetic condition is mostly responsible for the resulting suffering, diminished quality of life, and the life prospects of these people. Structural disadvantages in terms of unemployment (or underemployment) are especially acute for this population. For instance, a report entitled, The Invisible Workforce by the Downs syndrome Association (UK), along with other anecdotal evidence, shows that prejudice and social discriminationoften driven by fear, ignorance and misunderstandingas well as inadequate access to public transport are common barriers to the workplace as experienced by persons with Downs syndrome.176 Of the 15,000 persons with Downs syndrome of working age (18 60 years) in the UK, only 18% are currently in paid employment.177 This is so even despite the fact that in response
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172 173
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Hull (n 156) 203. R Hatcher, Social Class and Schooling Differentiation or Democracy, in M Cole (ed), Education, Equality and Human Rights (Routledge, New York 2006) 202. ME Snell and others, Characteristics and Needs of People with Intellectual Disability Who Have Higher IQs (2009) 47 Intellect Dev Disabil 220, 223. See C Barnes and British Council of Organizations of Disabled People, Disabled People in Britain and Discrimination: a Case for Anti-Discrimination Legislation (C. Hurst & Co, London 1991), 96; Waddington (n 159). E Emerson and C Hatton, Contribution of Socioeconomic Position to Health Inequalities of British Children and Adolescents with Intellectual Disabilities (2007) 112 Am J Ment Retard 140; Emerson and others (n 151); NHS Health Scotland, Health Needs Assessment Report: People with Learning Disabilities in Scotland (NHS Health Scotland, Glasgow 2004). See Alderson (n 112) 635 and 636. A Alborz, R McNally and C Glendinning, Access to Healthcare for People with Learning Disabilities: Mapping the Issues and Reviewing the Evidence (2005) 10 J Health Serv Res Policy 173; J Hogg, Essential Healthcare for People with Learning Disabilities: Barriers and Opportunities (2001) 94 JRSM 333; Jenkins (n 74). Downs Syndrome Association (UK), The Invisible Work Force (January 2008) , http://www.downs-syndrome.org.uk/images/stories/ DSA-documents/news/invisible_workforce_2008.pdf . accessed 4 December 2010. See Alderson (n 112). Anonymous, Opening Doors: Workers with Downs Syndrome Still Face Huge Obstacles to a Fullling and Rewarding Career (18 August 2007) , http://www.guardian.co.uk/money/2007/aug/18/discrimination. socialexclusion . accessed 4 December 2010.

to a survey posted by the Downs syndrome Association (UK), two-thirds of those polled who were not working expressed that they would prefer to be employed.178 According to Buckley, a leading UK Downs syndrome expert: With appropriate education, training and support some 60 70% of adults with Downs syndrome could nd some form of employment.179 This is not to deny that there are cases where individuals with Downs syndrome sustain impairments by way of their genetic endowments that have signicant, determining, negative consequences for their lives and the lives of their families. The degree of impairment cannot be predicted on the basis of PGD testing in advance of birth: as such, the risk of serious impairment does exist. But as Scully points out: Since no society . . . has entirely eliminated the social or cultural contributions to disablement, the magnitude of the intrinsic disadvantage is only really clear when it is so overwhelming that it renders the other contributions trivial. For many phenotypic variations, it is not yet possible to assess how much intrinsic disadvantage would be left over if social responses were different. Clearly there are also other questions to resolve, such as how to measure the different contributing factors, and then how to decide which factor or factors make the larger contribution or are more readily modiable.180 Only with a better grasp of what the experience of living with Downs syndrome is like (both from the perspective of individuals with Downs syndrome themselves as well as their family members) and what it can be like under changed conditionsonly then will we be on rmer grounds on which to base judgments about intrinsic and modiable disadvantages associated with Downs syndrome. In summary, the likelihood and extent of disabilities associated with Downs syndrome are a result of the interplay of individual impairment and contextual factors.181 Assumptions of a simplistic cause and effect relationship between Downs syndrome and individual and family suffering182 are not borne out in a review of the literature. The experience of families with members who have Downs syndrome is variable, and a pathological response is not inevitable. The argument here is that the
178
179 180 181 182
Downs Syndrome Association, Adults with Downs Syndrome Still Facing Barriers to Employment (1 June 2007) , http://www.downs-syndrome.org. uk/news-and-media/press-releases/2007/143-adults-still-facing-barriers. html . accessed 4 December 2010. Buckley (n 111). JL Scully, Disability Bioethics (Rowman & Littleeld, Lanham 2008), 1723. See Shakespeare (n 166) 2. See Reindal (n 160) 92.
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experience of social discrimination as well as prejudice, stigmatisation, and a general history of segregation have done much to constrict the life opportunities of persons with Downs syndrome. These prevailing negative conditions and social circumstances have been, and continue to be, dominant factors in the various experiences of, and expectations for, disadvantage on the part of persons with Downs syndrome as well as their families.183
V. RISKS OF COMPOUNDING SOCIAL DISCRIMINATION AGAINST PERSONS WITH DOWNS SYNDROME

The previous sections have pointed to the fact that there is suffering and disadvantage associated with Downs syndrome, both from the perspective of those directly affected by life with this condition as well as from the perspective of their family relations, but that much of the source of the experience of the disability is rooted in social sources that are remediable. I want in this next section to consider some of the ways in which the English regulatory system for assisted human reproduction threatens to compound the risks of prejudice and social discrimination against persons with Downs syndrome. To understand the gravity of this risk, we will need to look at the evolution of certain recent revisions to the HFEAs licensing procedures in response to the aforementioned changes to the HFEA Act 1990 (as amended, 2008). In November 2001, the results of a public consultation on PGD were released by the HFEA and HGC. At that time, the overwhelming majority (80%) of the public polled agreed that the seriousness of a condition should be a matter of clinical judgment based on general guidance.184 Alternatively, 20% of those polled felt that the seriousness of a genetic condition should be determined by referring to a list of specied conditions. Also at the time, the Joint Working Party (of the HFEA and HGC) agreed that the guidance given on the use of PGD should not comprise a prescriptive list of serious conditions for which the use of the technique was thought to be appropriate.185 They recommended that guidance should support difcult parental choices rather than appearing to discriminate against individuals with certain conditions.186 Since then, rather than regulating access to PGD according to an objective list, HFEA guidance has been oriented towards empha-
183 184 185 186
Waddington (n 159) 34. HFEA and HGC (UK) (n 55). Ibid, Pt 1, para 23. Ibid, Pt 1, para 22. See para 24.

sising the importance of the views and experience of those seeking PGD for determining what counts as a signicant risk of a serious genetic condition.187 However, it is now a statutory requirement188 under the Act (as amended 2008) that the HFEA itself must be satised that PGD is carried out only where either there is a signicant risk that a child to be born will have or develop a serious condition or where a physical or mental illness or other medical condition is gender related and for which it can be screened against on this basis.189 Counsel to the HFEA has determined that: whilst the statute does not require the Authority to satisfy itself as to the risk and seriousness of genetic conditions in every individual case, it does require the Authority to determine signicant risk and seriousness, in general, for each genetic condition for which PGD is offered. There is no need for the Authority to base this decision on the facts of an individual case, even for the rst use of PGD for that condition.190 On the basis of this Counsel, the HFEA Heads of Research Regulation (OToole) and Policy (Tizzard) in an Authority Paper (18 March 2009) suggested that: The Authority could, therefore, agree in principle that PGD could be used for a particular genetic condition, based upon the nature of the disability, illness or medical condition which is likely to result from that abnormality in general.191 As of October 2009, the HFEA has proceeded to implement a two-tier level of assessment for determining appropriate grounds for accessing PGD treatment. Rather than the clinician in consultation with the people seeking treatment needing to be satised of the signicance of risk and seriousness of a condition,192 it is the Authority itself that needs to ascertain that the statutory requirements for risk and seriousness are principally met for a given condition. It is understood that the clinician or centre is then tasked with ensuring that PGD is only offered in cases of signicant risk of a serious condition.193 The HFEA Licence
187 188 189
190 191 192 193
OToole and Tizzard (n 12) s4.4. Ibid, s1, 1.1 1.4. C OToole and D Edwards, Licensing of Embryo Testing (8 July 2009) s1.3 ,http://www.hfea.gov.uk/docs/Item_7_-_Licensing_of_embryo_testing.pdf . accessed 4 December 2010. OToole and Tizzard (n 12) s 5.3. Ibid. HFEA (n 10). D Edwards, Case by Case Decision Making in PGD (15 December 2009) s3.19 , http://www.hfea.gov.uk/docs/2009-12-15_ELAC_-_Case_by_case_decision_making_in_PGD_-_Paper.PDF . accessed 4 December 2010.
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Committees have thus published a list of select conditions (that include Downs syndrome) that can, in principle, be considered sufciently serious to warrant PGD testing.194 The list is no longer necessarily client driven, and is not to be misconstrued as representative of already approved applications. More specically, treatment centres no longer apply for variations to their licences to carry out PGD for particular couples. Now instead, licenced centres may carry out PGD for any of the conditions listed on the HFEA website.195 When applying for a condition not previously licenced, unlike in the past, centres are no longer required to apply to the HFEA on the basis of a particular patient case. Instead, they can make an in principle application for a given condition, and the HFEA makes an in principle judgment about that condition.196 Given the evidence that so much of what makes Downs syndrome disabling is socially induced, it seems somewhat of a strain to consider that there is some in principle nature of this condition that makes it an inherently serious condition. As Hull points out, to underestimate the socially induced factors of disability, in the language of Luka ` cs, is to suffer from a reied view of disability whereby disability is mistakenly viewed as being natural and xed.197 I have argued elsewhere that the practice of designating and singling out a special class of genetic conditions as serious and therefore
194 195
196
197
HFEA (n 4). The list, according to the HFEA, serves as an informative reference point for clinics and patients. Obtaining IVF and PGD services can be a notoriously slow, involving process given the many barriers to access: for example, nancial costs, associated travel time due to the limited number of clinics, etc. Publication of licensable PGD conditions, besides meeting the goals of transparency, may also speed up the process of obtaining PGD services for any given couple. HFEA, Embryo Testing (21 August 2009) , http://www. hfea.gov.uk/5259.html . accessed 29 November 2010. Ibid. Defenders of the HFEAs approach here might argue that since the degree of impairment cannot be predicted in advance of a prospective life with a given genetic condition, an in principle decision to allow PGD for say, Downs syndrome, would be justied as taking account of the risk of serious impairment in, albeit, a small number of cases that are no less severe for being rare. Members of the HFEA 2006 Ethics and Law Committee are said to have recognized that if a condition is serious then any risk is signicant. (Minutes of the Eleventh Meeting of the HFEA (14 February 2006) s7.3 , http://www.hfea.gov.uk/docs/ELC__Minutes_Feb06.pdf . accessed 4 December 2010.) There is certain merit to this reasoning, and my position is such that I would denitely not wish to challenge prospective clients who are risk averse, so to speak. My challenge to the principlist approach to regulation according to seriousness is that it tends to place the emphasis on the condition itself rather than looking to environmental factors, thus sometimes overlooking the complexity of the involved causes and developmental contingencies for a life with trisomy 21. Hull (n 156) 208.

appropriate to test for, holds the risk of giving medical imprimatur to some of societys strongest fears and prejudices about what it is to relate to, live with, and support persons with these conditions or other disabilities.198 By delineating this special class of genetic conditions and naming them serious, as with the case of Downs syndrome, we allow ourselves to think that selecting against having a child with a serious condition is on the face of it more legitimateas validated, ultimately, by the authority of the HFE Act 1990 (as amended 2008)than choosing to resist this established, widespread prejudice in society.199 As Asch asks: Why should parents be told by test designers: We think that cystic brosis, or muscular dystrophy, or deafness, or Downs syndrome should make parents think at least twice before contemplating childraising; but other conditions are too trivial for parents to object.200 According to Asch and Wasserman, a policy that promotes selection against embryos with disabling traits conveys the strong impression that the problem is the disability itself rather than the society that could do so much more to welcome and include all its members.201 In this regard, the continuous focus on the genetic quotient202 to factor the effects of disability causes us to bypass the important question of whether the impairments that come with Downs syndrome have to be disabling, and to what degree social conditions are the primary cause of the resulting disabilities.203 The burden of this paper has been to force a pause in answering this question to consider the evidence. Weighing the evidence, I want to suggest that most (though not all) of what is debilitating and limiting about living with Downs syndrome (or being in a family with a member with Downs syndrome) has been in the past, and importantly still is, either exacerbated by, or the direct product of prejudice, stigma, and unjust discrimination and can be redressed by way of social, political, and legal reforms.204 The argument could be made that even though many negative aspects associated with living with Downs syndrome (as an individual) or caring for a Downs syndrome child (as a parent) can be
198
199 200 201 202 203 204
T Krahn, Where Are We Going with Preimplantation Genetic Diagnosis? (2007) 176 CMAJ 1445; D Wasserman and A Asch, The Uncertain Rationale for Prenatal Disability Screening (2006) 8 Virtual Mentor 53. Krahn (n 199). A Asch, Disability Equality and Prenatal Testing: Contradictory or Compatible? (2003) 30 Florida State Univ LR 315, 339. Wasserman and Asch (n 199) 54. A Lippman, Prenatal Genetic Testing and Geneticization: Mother Matters for All (1993) 8 Fetal Diagn Ther 175. See Asch (n 201) 318. Wasserman and Asch (n 199); Waddington (n 159) 338.
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addressed through the provision of adequate social supports and provisions for living, historically speaking, there is a long-standing practice of inadequate social provisions to persons with Downs syndrome as well as their families. Given this context, what is the HFEA to do in the meantime? Knowing that there will be inadequate support for people living with Downs syndrome (and their families), what weight should be attached to the fact that the effects of a disability could be ameliorated by adequate support when making a judgment about the seriousness of that disability? In responding to this question, it is important to re-emphasise that the language of seriousness as promulgated by the amended HFE Act and used in HFEA policies in these matters, tends to place emphasis on the in principleunderstood as inherently incapacitatingnature of the impairments that come with a given condition. The criticism just stated, then, actually underscores the social rather than genetic character of the disabilities which persons with Downs syndrome and their families face. The pragmatic concern of where adequate social and political support is to be found to address the needs of persons living with Downs syndrome and their families, is of course valid and the position of this paper is not to dispute the extension of PGD for those who wish to utilise this technology to prevent offspring with Downs syndrome.205 Critics of the position put forth in this paper might further rejoin that the evidence given, which seems to normalise much of the experience of having and raising a child with Downs syndrome, reects an exceptional ability of certain families to cope with the relevant difculties, but that this is not evidence of the comparative neutrality of living with, or raising a family member with, Downs syndrome. Retrospective judgments concerning whether the experience was rewarding or worthwhile as opposed to laden with suffering, are quite different from prospective judgments concerning what one might want to attempt to undertake. That many families with members with Downs syndrome are resilient and able to cope well (for the most part), does not prove it would be a mistake in reasoning (moral or otherwise) for prospective parents to want to avoid such challengeschallenges that may be perceived as holding too great a risk of suffering for the family, even if
205
Questions concerning the lines of responsibility for assuming the extra social supports and economic costs incurred in raising a child with Downs syndrome are also issues that need further exploration and research. For a critique of the lack of economic and social support for prospective parents choices to raise: (i) children with disabilities and (ii) children with Downs syndrome, see, respectively, Shakespeare (n 170) and Alderson (n 73).

these challenges might be benecial either on a personal scale or to family life more generally.206 This criticism has certain force insofar as it makes sense of parents preferences for what sorts of challenges they wish to take on, what kinds of children they want to have, and what their expectations are for the kind of family life they hope to have with their child or children. To reiterate, the point here is not to argue for a ban on access to PGD for Downs syndrome, nor to question prospective parents reasons for selecting against embryos that carry a strong likelihood of yielding offspring with Downs syndrome. But in licensing PGD for Downs syndrome the HFEA is not to be understood as making available a tool for clients to simply better guarantee the results of their preferred reproductive projects; instead, the HFEA licensing of PGD for Downs syndrome according to the standards established by the HFE Act 1990 (as amended 2008), sends the message that this is a serious condition207 that carries with it a signicant risk of imposing signicant suffering (or other compromising features) for quality of life for the affected, prospective offspring and the families of these affected offspring. Given the evidence available, judging Downs syndrome to be a serious genetic condition for which PGD testing is deemed in principle appropriate, risks propounding a misconception of what life is really like for persons with Downs syndrome and their families. This negative attitude to Downs syndrome is now strongly entrenched within prevailing social norms, both in the UK and throughout the Western world.208 The argument being put forth here is not so much that allowing PGD for Downs syndrome is wholly responsible for creating the impression that Downs syndrome is an inherently negative genetic condition; rather, allowing PGD for Downs syndrome under the auspices of the present HFE Act and relevant system of guidance, wrongfully lends credibility to this impression, thus abetting forces of prejudice, stigma and unjust discrimination against persons with Downs syndrome and/or their families. Having a child with Downs syndrome is not necessarily regrettable in fact, its not even likely to be regrettable. This is not to deny that a life with Downs syndromeas also for a life with a family member who
206 207 208
E Parens and A Asch, Disability Rights Critique of Prenatal Genetic Testing (2003) 9 Ment Retard Dev Disabil Res Rev 40, 434. Ibid s10.5; HFE Act 1990. As Amended (2008) (n 6) Sch 2, s1ZA(2)(a b); Code of Practice (n 14) s10.5 10.6. R Grant and K Flint, Prenatal Screening for Fetal Aneuploidy (2007) 29 J Obstet Gynaecol Can 580; C Julian-Reynier and others, Attitudes Towards Downs Syndrome: Follow Up of a Cohort of 280 Cases (1995) 32 J Med Genet 597.
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has Downs syndromeforecloses certain opportunities. As outlined above, some of the disadvantages accruing to persons with Downs syndrome and their families stem from impairment-induced disabilities that social supports may prove practically powerless to redress. The point here is simply to say that most of what is disabling in most cases of Downs syndrome is socially induced and there needs to be much more public debate over how we as a society will choose, or not choose, to practically address these needs. In lieu of this, we are allowing what are probably social preferences to drive regulatory decisions that underwrite restrictive (not open) access to PGD testing for Downs syndrome, and ex post facto giving ourselves a story about serious genetic conditions that makes it seem as if that which is serious about the resultant disabilities is much more determined and life-compromising than is actually the caseneither for the affected individual, nor for the family.
VI. CONCLUSION
In conclusion, I have argued that according to the factors for assessment given in the Code of Practice section 10.6, approving applications for the use of PGD for Downs syndrome is (considering the evidence) problematic, or at the very least debatable. Those aspects of the syndrome which result in compromises to health can in most instances be successfully managed (or treated) through the provision of adequate medical care, while other aspects can be addressed through the provision of adequate social supports and provisions for living. The intellectual impairments associated with Downs syndrome have been exaggerated and the evidence points to systemic gains in terms of the intellectual and social capacities of persons with Downs syndrome by way of educational and other kinds of social reforms or interventions. The evidence also argues against any presumption that either persons with Downs syndrome or their families are likely to have lives dominated by suffering. In fact, most (though not all) suffering and disadvantage associated with Downs syndrome for the affected individuals and their relatives is either the product of social conditions (including, most notably, prejudice, stigma and social discrimination) or can be signicantly alleviated (or ameliorated) by way of changes to family circumstances, the provision of social supports, and various forms of societal reform.

Justications for extending PGD testing for Downs syndrome209 under the current regulatory instruments as an appropriate application of this technology do not follow from a consideration of the evidence as given in the relevant literature concerning the capacities and quality of life possible for most persons living with Downs syndrome. As such, by allowing access to PGD testing for only serious genetic conditions and labelling Downs syndrome as one such condition, in effect the current regulatory system in this instance risks participating in a form of social discrimination, possibly compounding forces of stigma, prejudice, and general misinformation about the capacities and quality of life possible for persons living with Downs syndrome. In arguing that PGD for Downs syndrome be considered inappropriate under the current regulatory instruments set out in the amended HFE Act as well as the relevant guidance provided in the Code of Practice (8th edition), I do not mean to imply that we ought therefore to disallow access to PGD services for Downs syndrome.210 But if we do continue to use PGD for Downs syndrome, we should be clear that we cannot honestly think to do so because Downs syndrome is an inherently serious genetic condition.
209
210
It is an interesting question whether there should be any justications relevantly required for accessing PGD services over and above considerations involved with factor (a1), namely the views of prospective parents seeking the treatment. Some have argued that where the future child would have a reasonable chance for a life worth living despite the associated impairments, there are no good grounds over and above parental preferences for restricting access to genetic information and the use of medical technologies to select against affected embryos or foetuses any more so than in cases with normal embryos or foetuses. Perhaps in those rare cases where the prospective child would not have a reasonable chance at a life worth living, then selecting against the relevant foetuses or embryos could be justied by concern to avoid undue suffering in a child. This line of argument would also stand to challenge the criteria in the Abortion Act 1967 (c.87) (amended by the HFE Act 1990) for selective termination of pregnancy for foetal abnormality (s37(1)(d)). These are important issues but beyond the scope of this paper. For relevant discussions, see Asch (n 201); S Sheldon and S Wilkinson, Termination of Pregnancy for Reason of Foetal Disability: Are There Grounds for a Special Exception in Law? (2001) 9 Med L R 85; D Wasserman, A Choice of Evils in Prenatal Testing (2003) 30 Florida State Univ LR 295. T Krahn and SI Wong, Preimplantation Genetic Diagnosis and Reproductive Autonomy (2009) 19 Reprod Biomed Online 34.
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Medical Law Review, 19, Spring 2011, pp. 157191 doi:10.

1093/medlaw/fwr009 Advance Access Publication April 29, 2011

REGULATING PREIMPLANTATION GENETIC DIAGNOSIS: THE CASE OF DOWNS SYNDROME

II. ENGLISH LAW AND POLICY ON APPROPRIATE USES OF PGD

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D. Associated Suffering 1. Associated Suffering from the Perspective of the Individual

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V. RISKS OF COMPOUNDING SOCIAL DISCRIMINATION AGAINST PERSONS WITH DOWNS SYNDROME

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