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Assisted reproduction, including preimplantation genetic diagnosis, has been subject to statutory regulation in the UK since 1991. The Human Fertilisation and Embryology Act (1990) based largely on the recommendations of the 1984 Inquiry into Human Fertilisation and Embryology (the Warnock Report) made it a criminal offence to carry out certain activities without a licence from the statutory regulatory body, the Human Fertilisation and Embryology Authority (HFEA). The activities that required a licence were:

  • The creation or use of human embryos in vitro, for treatment or research (including preimplantation genetic diagnosis)

  • The use of donated gametes or embryos

  • The storage of gametes and embryos

This list was extended in 2007 to include some other forms of fertility treatment and clinical procedures in order to comply with the EU Tissues and Cells Directive.

Regulating PGD Under the 1990 Act

The first successful application of PGD in two couples happened whilst Parliament was debating the 1990 Act. Although aware of the potential use of PGD for avoiding disability, it chose not to set out detailed criteria for its use in the Act. Instead it gave the HFEA the power to issue treatment licences to authorise, in the course of providing treatment services, ‘practices designed to secure that embryos are in a suitable condition to be placed in a woman or to determine whether embryos are suitable for that purpose’. This placed sole responsibility for setting the boundaries within which PGD could take place firmly within the remit of the HFEA, until Parliament revisited the issue in 2008 (see below). Consistent with the ‘special status’ of the embryo reflected in both the Warnock Report and the legislation, the HFEA decided at an early stage that embryo testing should be restricted to cases where a child would be at significant risk of serious harm – albeit the word ‘serious’ was not defined. This made the criteria for testing and the disposal of affected embryos consistent with the legal criteria, in the Abortion Act 1967 (as amended), for termination of an existing pregnancy on grounds of fetal abnormality. In line with this position, the HFEA also made clear that although the use of PGD to determine the sex of embryos in order to avoid serious X-linked conditions was permitted, the technique must not be used to select the sex of a child for social reasons.

Assessing Technical Proficiency

Any clinic undertaking PGD in the UK must be licensed by the HFEA to perform IVF treatment and meet all of the criteria set out in the HFEA’s code of practice. In addition, between 1999 and 2009, individual embryo biopsy practitioners were required to apply to the HFEA to be ‘registered’ to carry out the procedure. In order to achieve this status, they had to provide evidence of their competence and expertise, from the use of embryos donated for research, and to be inspected and assessed by an HFEA inspector. Only those practitioners registered with the HFEA for this purpose could undertake embryo biopsy procedures in clinical practice. The responsibility for ensuring the competence of embryo biopsy practitioners now falls to the ‘Person Responsible’ (who under the Act is the individual legally responsible for the practice in the clinic) who must ensure that their performance is regularly assessed.

Conditions For Which PGD May Be Used

The HFEA has always rejected the idea of producing a list of medical conditions that it considers sufficiently serious to justify the use of PGD. Rather each individual condition is considered as and when an application for its use is received. By law, each condition for which PGD is intended must be approved as appropriate by the HFEA before PGD may take place. Initially, individual clinics were required to apply for a licence for each condition for which it wished to test, but since October 2009, once a condition has been approved by the HFEA in principle, any clinic in the UK licensed to practice PGD was able to test for that condition without the need to submit its own separate application. A list of approved conditions is provided on the HFEA’s website.

Assessing Seriousness

The issue of ‘seriousness’ was addressed in a public consultation exercise undertaken by the HFEA in 1999. Whilst determined to maintain its approach of ensuring consistency with prenatal diagnosis, the Authority wanted to explore some of the boundaries and provide some general guidance about how seriousness should be assessed in this context. Much debate focused on whether there should be some form of objective test of seriousness or whether it was appropriate to take into account the experiences and perspectives of the individuals concerned. The HFEA concluded that the family’s own perspective of the seriousness of the disease for them, given their individual circumstances, was an important factor to take into account. This general principle guides both the HFEA’s decision making about individual conditions and the decisions of individual clinics about whether to provide PGD in a particular case. In its code of practice (HFEA 2009), the HFEA advises clinics to consider:

  • The views of the people seeking treatment in relation to the condition to be avoided, including their previous reproductive experience

  • The likely degree of suffering association with the condition

  • The availability of effective therapy now and in the future

  • The speed of degeneration in progressive disorders

  • The extent of any intellectual impairment

  • The social support available

  • The family circumstances of the people seeking treatment

Assessing ‘Significant Risk’

In the early days of PGD, the conditions tested for were congenital or childhood-onset conditions with near full penetrance. In all such cases there would be a ‘significant risk’ that a child born would suffer from the disorder. As our knowledge and understanding of genetics increased, however, the question arose as to how immediate or likely the risk had to be to be considered ‘significant’. The first challenge was a request for the use of PGD for Huntington’s disease, a serious disorder which does not manifest until well into adulthood – a late onset disorder (see Chaps. 3 and 4). Whilst the baby and later the child would not be at ‘significant’ risk of the disorder, the adult he or she grew into would be. Another challenge to the significance test arose in relation to testing embryos for conditions with a far lower penetrance, such as some forms of cancer where those with the mutation are at a 30–80 % lifetime risk of developing the condition. In such cases, the child or later adult, derived from an ‘affected’ embryo, may never develop the condition. In some cases, such as inherited forms of breast cancer, the condition would be both late onset, with the possibility of screening or treatment available, and of lower penetrance (discussed in Chap. 4).

The HFEA once again set out to gauge public and professional opinion before ruling on such cases (HFEA 2005). Guided by this consultation exercise, and the views of its own Ethics and Law Committee, it concluded that, in principle, it was appropriate that PGD should be available for serious, lower penetrance, later-onset genetic conditions such as inherited breast, bowel and ovarian cancer. Initially it required each request to be considered by the Authority on a case-by-case basis but this requirement was removed in 2010 when approval for lower penetrance disorders was brought into line with the main PGD licensing system.

Who Is ‘the Child’ at Risk?

The HFEA’s aim for consistency with prenatal diagnosis, with its requirement that the child is at significant risk of serious harm, came under further challenge by requests for the use of PGD combined with HLA testing to produce a child who would be a compatible cord blood or tissue donor for a very sick sibling (see Chap. 13). In some of these cases, the child to be born itself was at risk of the condition and so the criteria for PGD were met. However, additional testing was requested to ensure that, of the unaffected embryos, preference should be given to those that would result in a compatible donor for a sibling. In other cases the child to be born was not at risk at all, but was tested solely to ensure compatibility. This not only challenged the HFEA’s desire for consistency with prenatal diagnosis but also the legal obligation of all clinics to take account of the ‘welfare of any child who may be born or affected by the treatment’. After much deliberation the HFEA concluded that, in principle, it was willing to accept PGD with HLA testing, but initially restricted such testing to cases where the child itself was at risk. This distinction was subsequently removed. Whilst the welfare of the child provisions of the legislation were satisfied by the fact that the treatment was of benefit to another child ‘affected by the treatment’, in this case, the HEEA had to set to one side its adherence to the principle of consistency with prenatal diagnosis.

Parliamentary Review

In 2008 Parliament had the opportunity to scrutinise the way in which the HFEA had managed the responsibilities delegated to it in respect of PGD. The decisions made by the Authority in the intervening years, and the framework for decision making that had been established, were subsequently endorsed and integrated into the legislation. In place of the general statement about ensuring embryos were suitable for transfer came a new detailed section explicitly addressing PGD. In line with the HFEA’s rulings, sex selection other than for medical reasons is prohibited, PGD with HLA testing is permitted and the HFEA can approve testing where there is a risk that the child would have or develop a serious disability, illness or medical condition. The legislation also specifically prohibits the deliberate selection for the purpose of replacement of affected embryos. This follows publicity given to a case in the USA where a deaf couple wanted to use PGD to select a deaf child.

Regulation in Other Countries

The USA does not have federal law that specifically dictates how PGD may be practised and which diseases are or are not suitable for this purpose. The regulatory framework is largely by professional self-regulation or by legislation in individual states. The American Society of Reproductive Medicine issues practice guidelines and, unlike the UK and many other countries in Europe, condones sex selection for non-medical purposes – ‘family balancing’ (see Chap. 15). The use of PGS thrives there with a number of companies established to provide testing services for multiple conditions using sophisticated molecular techniques (see Chap. 19).

Because individual states in Europe have diverse albeit linked histories, and varying degrees of religious influence, laws about PGD are not unified. In France PGD is regulated by a law that allows healthy embryos to be selected when a parent or other close relative has a serious genetic disease and PGD to provide a tissue match for an ill sibling is also allowed. Sex selection is legal for medical purposes, but not for cultural reasons or family balancing. Italy’s Law on Assisted Reproduction 2001 only allows ART for infertile heterosexual couples and also makes it illegal to freeze or destroy human embryos. This was in 2007 successfully challenged in 2007 over a landmark case of PGD for thalassaemia and again in 2012 by the European Court of Human Rights over a PGD case for cystic fibrosis which is being appealed by the Italian government.

In Austria and Germany, neither PGD nor PND was allowed for the purposes of selecting against embryos that may be considered to carry disabling disorders (embryopathic indications). Germany’s Embryo Protection Act protects a fertilised egg from the time of fusion of pronuclei and made it a criminal offence to use embryos in a way that does not promote their survival, thus precluding biopsy and PGD. The recent change by free vote (2011) following a landmark case now allows PGD in restricted centres if the chances of a miscarriage or stillbirth are high for genetic reasons or if the parents have strong likelihood of passing on a genetic defect.

Key Points

  • It is a criminal offence in the UK to carry out PGD without a licence from the Human Fertilisation and Embryology Authority.

  • The HFEA must approve each condition before it is used for the first time in PGD; once approved, other clinics licensed to offer PGD may test for the same condition without seeking approval.

  • In most cases, the HFEA will only approve conditions where there is a risk that a child would have or develop a serious disability, illness or medical condition; this could include adult-onset disorders and predisposition to serious conditions.

  • The exception to this general rule is PGD with HLA testing in order to select a suitable donor for a very sick sibling, which the HFEA will consider.

  • It is unlawful to use PGD to select the sex of a child for social reasons or for the deliberate selection and replacement of affected embryos.

  • The law in the rest Europe is varied but changing in favour of allowing PGD. In general sex selection for non-medical purposes is outlawed, unlike the USA where gender selection for family balancing is allowed.