Regulatory legitimacy: the case for controlling and restricting access to PGD for sex-selection purposes
7 Regulatory legitimacy: the
case for controlling and
restricting access to PGD
for sex-selection purposes
Pre-implantation genetic diagnosis embryo screening and assisted reproductive technology
Thirty years after the first birth using in vitro fertilisation (IVF), the assisted reproductive technology (ART) debates have continued, raising issues concerning embryo experimentation, including the use of pre-implantation genetic diagnosis (PGD) to screen embryos for genetic characteristics and conditions.
PGD is used to screen embryos to assist in deciding which may be judged suitable for implantation. Those not deemed suitable are generally discarded, although they may be used for research purposes, given that any required consent has been obtained. This chapter examines the regulatory regime for PGD in Australia which can be found principally in the National Health and Medical Research Council’s (NHMRC) Ethical Guidelines on the Use of Assisted Reproductive Technology and Clinical Practice and Research (2007). Where PGD is used in embryo research, the regulatory regime established by the Research Involving Human Embryos Act 2002 applies. An Australian government committee1 reviewed this regime, which resulted in revisions to the NHMRC guidelines and to the legislation. This chapter focuses on PGD embryo screening and the regulatory justifications for controlling and restricting access to PGD in ART clinical procedures, with specific reference to its use in sex selection for non-medical reasons.
Towards liberalisation in ART regulation
Following the first ART births at the end of the 1970s, enquiries were established (early examples were Waller2 in Victoria and Warnock3 in the UK) and regulation was introduced. From the outset, there was a community tolerance of ART procedures, but the regulation introduced had a restrictive tilt,4 with carefully regulated licensing authorities such as those in Australia,5 the United Kingdom6 and Canada.7 There are parallels between the predominantly public healthcare systems in these three countries and their legislative ART schemes, with licensing regulatory authorities and regulated standards of clinical practice.8 At the other extreme, the free market United States relies on professional self-regulation,9 has little regulation beyond the federal Fertility Clinics Success Rates and Certification Act 1992 and has been described as a ‘patchwork, with authority divided among numerous sources of oversight’.10 However, ART is regulated in most countries by a system of licensing or professional codes of practice, with regulation covering:
• ART clinic licensing (or professional accreditation)
• clinic requirements to follow prescribed clinical and professional standards of treatment, patient care and record keeping
• written consents from the parties involved, including, if required, gamete donors and their spouses
• clinic requirements to maintain records, including consent forms and the outcome of the procedures (pregnancies, births, miscarriages)11
• counselling to be available
• certain procedures are excluded, such as cloning, mixing of gametes, research on embryos, or sex selection, except for medical reasons to avoid a genetic disease.
It should be noted that, even in those countries which have a national health service, the provision of assisted reproductive services is often left to the private sector, and there are real questions about the public interest, cost and appropriateness of rigid legislative models of regulation in a largely privatised area of clinical practice.12 Debates on the regulation of ARTs are compounded both by this and by the international trade in these services, with the capacity to avoid national prohibitions or restrictions by crossing borders and using services in less regulated jurisdictions. In addition to legislation, the development of Codes of Clinical Practice and Standards is a significant aspect of the regulation of ART clinics.13 For example, in Japan, ART is regulated under guidelines developed by the National Society of Obstetricians and Gynaecologists.14
The trend in recent years has been from restrictive to more permissive15 regulation and this continues as ART has become established as essentially a standard infertility treatment, accounting for an estimated 2–3 per cent of annual births in developed countries. Indeed, there are some who question whether this area should have been regulated at all.16 In the United Kingdom, the House of Commons Science and Technology Committee in 2005 proposed a balance between individual freedom in reproductive choices and the legitimate interests of the state, but argued that any intervention into reproductive choice must have a sound ethical basis and also take into account evidence of harm to children or to society.17 A more recent Victorian Law Reform Commission Report concluded that ‘our consultations revealed that almost everyone believes the promotion of the best interests of the child should remain the primary concern in the regulation and provision of ART services, even if they differ on precisely how a child’s interests should be protected in the context of access to ART’.18 The qualifying last words recognise the general importance given to the ‘best interests of the child’19 test, but also raise the possibility of the importation of judgemental tests for parenthood potential.20
Whatever the tests applied for suitability of access to ART, arguably a less restrictive and more liberalised approach to ART regulation can be seen, at least in those areas considered in the following sections.
Status of children
Internationally, regulations have consistently removed legal doubts about the status of children born as a result of ART procedures where donor gametes were used.21
Access to programmes
At the outset, ART was often restricted to married couples and still may be in some countries.22 For example, in Japan, guidelines restrict the availability of ART to married couples.23 There are similar restrictions in a number of other countries,24 and this restrictive access regime extends in general to South American nations, Muslim nations and much of Africa.25 Gradually, however, access has been extended in other jurisdictions, particularly after legal challenges in the courts, often on the basis of discrimination. Such challenges have come from same-sex couples26 and single would-be parents.27 As an example of a more liberal approach in these cases, the Canadian Royal Commission on New Reproductive Technologies stated: ‘[E]xcluding single women or lesbians from DI programmes not only contravenes their equality rights it also puts their health at risk … if a service is to be available, women should be treated equally, unless there is good evidence that the best interests of the child will suffer.’28 More strongly, the Canadian Commission recommended that access to treatment be ‘determined on the basis of legitimate medical criteria without discrimination on the basis of factors such as marital status, sexual orientation or economic status’.29
Donor anonymity in ART was originally assured in many regulatory schemes. There have again been significant shifts over the decades towards abolition of anonymity for gamete donors. This abolition first occurred in Sweden in 1988,30 with a considerable initial impact on the recruitment of donors to ART programmes. The pioneering ART legislation in Victoria established a comprehensive scheme for access to donor information in an ART procedure for the child.31 Similar access rights to donor-identifying information have been introduced in New Zealand.32 In many jurisdictions, children are given the right to obtain access to non-identifying information about the donor. However, a number of countries, particularly the largely unregulated United States, still allow anonymity. The regulation of donor anonymity can be a decisive factor in reproductive tourism choices.
Research on human embryos: liberalisation with
a restrictive tilt
The liberalising trend in ART regulatory schemes33 has been reflected to a degree in embryo research, albeit more slowly and cautiously. Research and experimentation34 on embryos was and remains controversial, particularly because of religious and philosophical differences of opinion about the moral status of the embryo.35 In Australia, there was a generally strict regulatory approach to embryo research,36 before a national regulatory scheme was introduced in 2002 permitting embryo research.37
The Legislation Review Committee in Australia38 (the Lockhart Reports) considered whether non-transferred PGD embryos could be classified as ‘excess’ embryos and able to be available for non-medical treatment purposes with the consent of the gamete donors. The Lockhart Reports made a recommendation that embryos identified by PGD as carrying genetic diseases or other abnormalities and which would normally be discarded should be available for research, training and improvements in clinical practice.39 Originally only stored frozen embryos were able to be used in research but recommendations were made on the use of fresh ART embryos.40 However, the use of unfrozen, fresh embryos was recommended but required the prior development, by a group of experts, of an objective and revised biological definition of ‘human embryo’ for use in determining whether the embryo is unsuitable for implantation.41 The definition was to take account of emerging technologies in reproductive science rather than legal, moral, religious or social views,42 with the caveat that ‘it is important that the definition does not become so wide as to encompass human cells or cellular structures that traditionally have not been previously considered to be embryos’.43 The expert group settled on a revised definition that was later published.44
The Lockhart Reports were silent on the timing for consent for a PGD embryo to be declared ‘excess’ and therefore available for use in research. The ‘proper consent’ requirements under the NHMRC Ethical Guidelines (2007) normally require a two-week cooling-off period after consent was given for specific research.45 Such a two-week cooling-off period would, however, render the fresh PGD embryo unusable in research. Professor Agnes Bankier submitted to the Review Committee that couples undertaking PGD should receive genetic counselling and that it should be discussed with them what would happen to their embryos in the event of an adverse diagnosis. Therefore, in her view, ‘consent obtained before the PGD procedure would not need the cooling-off period’.46 The Research Involving Human Embryos Act 2002 was amended and the Licensing Committee developed a shorter consent cooling-off period for PGD couples.47
Australia is now in the company of countries such as the UK, Finland, Greece, Israel,48 the Netherlands, Singapore, Sweden and South Korea and the American states of California and New Jersey49 that have moved to approve embryo and embryonic stem (ES) cell research with a system of statutory licensing of the research on excess (surplus)50 ART embryos. Some other countries have permitted restricted research on surplus embryos but have done so by guidelines rather than legislation (for example, Japan).51
The legislation and guidelines in these countries include broadly similar provisions, permitting embryo research but in defined conditions, including:
• only surplus ART embryos allowed may be used (except in the UK);
• consent of the parties creating the embryos is required at two stages – consent that the embryos are no longer required for ART treatment and consent to research;
• the purposes of the research are restricted and must be explained and justified;
• the research purposes must be approved by ethics review committees;
• the research is generally required to be reported and research results published; and
In addition, it is also common in the legislation and guidelines to include restrictive tilt conditions in relation to the purposes of the embryo research. In Australia, for example, the research licence applicant must demonstrate that there is a ‘likelihood of significant advancement of knowledge or improvement in technologies for treatment’.52 In the UK, acceptable research purposes were originally restricted to understanding of the causes of infertility, miscarriages, congenital diseases, contraception and chromosome abnormalities but were later expanded to include research for the purposes of understanding the development of embryos, increasing knowledge of serious disease and the treatment of those diseases.53
So, like ART regulation, the trend in embryo research regulation has been towards liberalisation, albeit with a distinctly restrictive tilt. However, it must be noted that some countries have maintained strict bans on human embryo research, such as Austria, Ireland, Canada, the Philippines and Germany.
Pre-implantation genetic diagnosis and the reasons
for its use
Within ART programmes, techniques have been developed enabling the genetic analysis and diagnosis of embryos before transfer and implantation (pre-implantation genetic diagnosis or, PGD, for short).54 These PGD techniques were preceded by the introduction of two post-fertilisation prenatal diagnostic procedures in the latter half of the twentieth century, namely, amniocentesis and chorionic villus sampling.55 These procedures may be used during pregnancy to diagnose the health of the child in utero with the possible consequential, and often controversial, choice of abortion if a serious genetic condition is identified. As is now the case with PGD, these procedures were subject to early criticisms over their potential use for sex selection.56 The American College of Obstetricians and Gynecologists (ACOG) accepted these procedures as ethically permissible to prevent the birth of children with serious genetic disorders,57 but there was less unanimity on how test results were dealt with, principally in terms of the possibility of abortion.58
PGD offers an alternative to prenatal diagnostic procedures for those concerned about genetic conditions.59 It enables clinicians to screen and to identify embryos that may be considered unsuitable for transfer and implantation because the diagnostic test results on the embryo indicate adverse genetic conditions.60 Arguably, PGD is more acceptable than using prenatal amniocentesis or chorionic villus sampling as PGD61 can avoid the use of selective abortion where a genetic disorder is identified during the pregnancy. Decisions to terminate a planned and wanted pregnancy are inevitably more traumatic than a decision not to transfer an embryo initially.62 The Legislation Review Committee Reports in Australia63 made a number of specific comments about the technological development of PGD within ART and stated that it was generally used ‘to help couples with a specific genetic disease to have a baby free of the disease’,64 but cautioned that, ‘[s]tudies indicate that the technique is efficient and safe, but PGD requires removing a sample of the embryo, and the long-term effects of decreasing the mass of an embryo by removing cells at the cleavage stage are unknown’.65 The potential applications of PGD are likely to increase as more genes associated with serious genetic conditions are identified. There are some indications that this is in fact already the case.66
PGD is employed where there are medical indications for its use and there is general ethical agreement that PGD is acceptable in these circumstances. Medical reasons provide the primary motivation for couples requesting sex selection. Clinical ethical guidelines in Australia support the use of PGD for medical reasons to reduce the risk of transmission of a serious genetic condition.
PGD is currently used to detect serious genetic conditions, to improve ART outcomes and, in rare circumstances, to select an embryo with compatible tissue for a sibling. These uses have profound ethical significance consequent of:
• what counts as a serious genetic condition is controversial; and
• the procedures involve the disposal of some healthy embryos.
Clinics must ensure careful evaluation of these and all other relevant issues before the use of PGD.67
Regulations regarding the use of PGD vary from country to country but are generally consistent with the Australian stance that PGD is only permitted for medical reasons and indications. This is the position in Germany,68 Italy,69 Turkey,70 New Zealand71 and Canada72 where PGD is permitted for medical reasons, including the prevention, diagnosis or treatment of sex-linked diseases or disorders. PGD is not permitted for non-medical sex selection. The pattern of genetic inheritance means that some such conditions are sex linked. For example, hydrocephalus – an abnormal accumulation of cerebrospinal fluid in the skull – is an inherited condition, which is likely caused by a faulty neural adhesion gene on the X chromosome. The trait is X-linked recessive, which can be passed on to boys who inherit the chromosome with the flawed allele from their mother. Similarly, for a couple at risk of having children affected by the X-linked recessive condition of haemophilia, identifying that their embryo has an X chromosome may be critical, as the disorder causes symptoms in males whereas females are, save in unusual circumstances, only carriers of the genetic condition. Such genetic conditions may be serious, debilitating and even life-threatening and diagnosis by PGD is likely, after counselling, to lead to a decision not to transfer the embryo. But other conditions may be arguably wrongly classified as ‘serious’ or even undesirable. Such a case of controversy involves Down syndrome,73 and there has been concern that the use of PGD to identify the condition may serve to ‘reinforce prejudices, stigmas and unjust social discrimination’ against persons living with the condition.74 It has, for example, been argued that the intellectual and social impairments associated with the syndrome have been arguably exaggerated and fail to take account of the fact that the disadvantages associated with the syndrome can be ‘significantly alleviated by way of changes to family circumstances, the provision of social supports, and various forms of societal reform’.75 There is a clear need to be more precise about what is a serious and non-serious genetic condition when PGD is used to determine the fate of embryos.
Pre-implantation genetic diagnosis for non-medical
reasons: sex selection
ART programmes experienced early criticisms over prenatal procedures and their potential for sex selection.76 In the development of ART, PGD remains ethically contentious given its potential use for non-medical sex-selection purposes. A controversial line is drawn where couples are not seeking PGD for medical reasons but to select a particular sex for their child.77 Sex selection can be achieved through PGD, with a high degree of reliability.
Broadly speaking, there seems to have been general acceptance of the need to regulate to prevent the use of PGD for sex selection for non-medical reasons in most Western countries. The Victorian Parliament introduced the world’s first legislation on reproductive technology,78 and its latest legislation bans the procedure except for medical indications for serious genetic conditions ‘to avoid the risk of transmission of a genetic abnormality or a genetic disease to the child’.79 Guidelines in Australia, as in many other countries, prevent the use of PGD for non-medical sex selection. These guidelines are recognised by the Fertility Society of Australia in their professional codes of practice and must be complied with. The NHMRC Ethical Guidelines (2007), state as follows:
11.1 Sex selection is an ethically controversial issue. The Australian Health Ethics Committee believes that admission to life should not be conditional upon a child being a particular sex. Therefore, pending further community discussion, sex selection (by whatever means) must not be undertaken except to reduce the risk of transmission of a serious genetic condition.
12.2 Pending further community discussion … PGD must not be used for:
prevention of conditions that do not seriously harm the person to be born;
selection of the sex of an embryo except to reduce the risk of transmission of a serious genetic condition; or
selection in favour of a genetic defect or disability in the person to be born.80
These NHMRC guidelines operate nationally and are the principal source of regulation in the states and territories that have not introduced specific legislation. These guidelines have been approved and recognised by the Reproductive Technology Accreditation Committee (RTAC) of the Fertility Society of Australia,81 which can remove accreditation of clinics for breach of these guidelines.82 However, a decision83 of the Victorian Civil and Administrative Tribunal considered these guidelines and cast some doubt on the generally accepted view that they are considered mandatory by the ART clinics. The decision84 of the VCAT concerned the transfer of sperm from a deceased husband from a Victorian to a New South Wales clinic to be used by the deceased’s wife to conceive a child. While the Victorian legislation prohibited the export and use of a deceased person’s sperm, except to places with similar procedures, the transfer was permitted under the NHMRC guidelines. The consent provisions in the Victorian Act and in the NHMRC guidelines were accepted as essentially equivalent. In his decision, the President of the VCAT stated that the ‘NHMRC guidelines … do not have the same status as a statute; and should not be interpreted or applied like a statute. The guidelines are intended to be just that – guidelines’.85
Objections to non-medical sex selection often centre on concerns that a distinct preference for one sex (usually male) over the other will result in problematic demographic outcomes and reinforce sex-based discrimination. In some countries, however, there is evidence of bias and discrimination against women,86 with a significantly higher ratio of male births to female births in Bangladesh, Pakistan, South Korea, China and India87 where sex-selection techniques are available and used. The problem arises that sex selection may lead to an imbalance in the sex ratio with the consequent social problem of individuals without marriage partners. This has been recorded in China88 with its widening sex imbalance, which may not be sustained, however, into the future.89 Equally, while this may be a plausible outcome in some countries, where the preference for male children is culturally embedded, there is less reason for concern in the liberal Western democracies. In fact, there is evidence from surveys in the USA and Germany that, rather than there being a distinct preference for one sex over the other, in fact, interest in non-medical sex selection, while rare,90 is generally related to family balancing.91 In addition, a UK survey demonstrated that there was no overall preference for either sex.92 There is, finally, evidence based on the findings of other surveys which supports the view that the sex ratio would not be altered significantly were sex selection for non-clinical indications permitted, at least in Western countries.93
Historically, sex selection by parents could be achieved by resort to the grizzly practice of infanticide. Other folkloric sex-selection techniques are supplemented by various quasi-scientific methods, such as altering the pH balance of the vagina before intercourse, timing intercourse to coincide exactly with ovulation and even special positioning of the couple during coitus. In the late 1990s, an Anglo–French company marketed a sex-selection technique which claimed to be nearly 99 per cent successful. The system had a quasi-scientific spin, suggesting the Y chromosomes carried a positive charge whereas X chromosomes carry a negative charge,94