This article appears in the February 2004 edition of the Catholic Medical Quarterly

Dilemmas in Pre-implantation Genetic Diagnosis

Report compiled by Dr Andrew Papanikitas MA MBBS

What is PGD?
Ethics of PGD
The argument for PGD
An argument against PGD
Genetic Futures, Genetic Ideologies
Further reading
GKT Medical Ethics Group


This joint meeting between the Guy's King's and St Thomas's Medical Ethics Group and Royal Society of Medicine Student members' Group took place on the evening of January 20th 2004. Once again, a number in the treble figures showed up to hear the panel of speakers, and join in discussion afterwards. It was advertised as 'Genetic Dilemmas at the Beginning of Life: Designer Babies' because, as GKT Medical Ethics Group president Omar Pathmanaban stated, 'At GKT, PGD (Pre-implantation genetic diagnosis) is not specifically discussed until Year 4 of the medical curriculum. We recognise that PGD does not constitute the 'design' of babies and the meeting is not intended to stray into the realm of genetically modified humans although the distinction between embryo modification and embryo selection is muddled in many accounts to be found in the press and on the internet.'

What is PGD?

PGD is a technique by which one or two cells are removed from a blastocyst generated by in vitro fertilisation so that the embryos can be tested for (for example) single gene disorders or chromosomal abnormalities. It was first performed by Dr Allen Handyside in Hammersmith Hospital in 1989. The main indication is for couples where one or both is a carrier or affected by a specific genetic condition the genes for which have been identified. Most of the conditions currently diagnosable have severe effects e.g. aneuploidy, B-thalassaemia; cystic fibrosis; Huntington's disease; muscular dystrophy amongst others. It has been described as the, 'beginning of the end of genetic disease that should have the same impact that antibiotics had on bacterial disease.'

Introductory comments on the Ethics of PGD

The topic was introduced by Professor Gordon Stirrat, Emeritus Professor of Obstetrics & Gynaecology at Bristol University. He stepped down from the chair in 2000 to become Senior Research Fellow in the Centre of Ethics in Medicine. In addition he is currently Chairman of the Ethics Committee of the RCOG and a director of the Institute of Medical Ethics. Among his areas of interest are education in ethics and patient-doctor autonomy.
He discussed whether or not PGD is indeed 'the beginning of the end of genetic disease'.  Some heated debate has taken place about whether it can and should be used to allow couples to choose such characteristics as sex (in the absence of any history of sex-linked disorders), deafness, hair colour, intelligence or sporting prowess. 

He suggests 'Each one of us is required to think ethically and act morally (i.e. we are all 'moral agents')...

Ethics is about individuals living and working in community. It is not just about 'me' and 'mine'. Individuals not only have rights but also duties/obligations towards others Moral judgements must be based on sound ethical theory and principles, identify all the ethical conflicts, be internally consistent and free of contradiction within and among cases, and produce answers that are both comprehensive and clinically relevant. Even when each of us does these things is it is most unlikely that we will all agree. There is seldom an absolutely 'right' or 'wrong' decision that covers all situations however similar they may seem.'

Prof Sirrat tells us that on one hand the situation indicating PGD is fraught with stress, and on the other PGD is a 'physically and mentally demanding process which does not bring any guarantee of success' (HFEA).

Prof. Sirrat discussed fundamental issues. What is the status of the embryo? Because something can be done does it mean it should be done? Is PGD ever justified? Are there circumstances when it might be permissible and others not? e.g. not to determine sex in absence of sex-linked disease or other desirable characteristics. How do we decide?

Do we consider the welfare of the created child and existing children? (We are legally required to consider this by the Human Fertilisation and Embryology Authority. How do you consider the welfare of someone as yet unborn?'

Stresses and strains on parents? Should PGD only available to those who can afford it? Will it lead to 'a slippery slope'?

Two key ethical pitfalls were identified by Prof. Sirrat. The 'compassion trap' involves use of the 'hard case' to influence public opinion. There is also the flawed argument e.g. Harris's 'heads I win; tails you lose' scenario: 'Either such traits as hair colour, eye colour, gender and the like are important or they are not. If they are not important why not let people choose? And if they are important, can it be right to leave such important matters to chance alone', says John Harris in Clones Genes and Immortality (Oxford, Oxford University Press; 1998).

Harris's argument implies that there are only two states, important and unimportant, when in reality there are many gradations in between. On one hand it fails to define for whom these attributes might be important or unimportant and on the other hand Harris may argue that all that matters is what the individual considers to be important or unimportant. But if ethics is 'the activity of a community, persons bound together in a common pursuit and by shared or complementary values' it leads to a different conclusion.

Included with the traits specified are the seemingly innocuous words 'and the like'. Tacit acceptance of this extension of Harris's argument tends to nullify any subsequent argument about the importance or unimportance of other characteristics because they are said to be 'like' the others about which we have, by default, agreed. It is simplistic to consider that genetics works 'by chance alone' and that allowing choice on individual characteristics (e.g. sex) is an otherwise value-free decision.


The Argument for PGD

The argument for pre-implantation genetic diagnosis was provided by Professor Peter Braude, Centre for Pre-implantation Genetic Diagnosis, Guy's Hospital. In a compelling presentation which included video clips of the in-vitro techniques, Prof. Braude described the science and the dilemmas as he saw them. He showed a series of 'shock' newspaper headlines, before he stated that these were not describing PGD but in-vitro fertilisation, and that for most people both the science and the ethics had moved on. He described the tragedy of patient who had undergone IVF with repeated failure. He then described how PGD actually improved the success rate of IVF, and showed figures from the centre at Guy' and St Thomas' to demonstrate this.

Prof. Braude used a 'snowboarding' analogy when discussing the slippery slope. He told the audience that a slippery slope was not a bad thing, provided one knew and approved of what was at the bottom, and one was able to control the decent.

An Argument against PGD

Some objections to the use of Pre-implantation genetic diagnosis were raised by Dr Michael Jarmulowicz, Consultant Histopathologist and recent Master of the Guild of Catholic Doctors.

Dr Jarmulowicz suggests that we should start with a defined set of principles, and ask ourselves 'How does the situation I am faced with and my proposed action fit with these principles?'

Conscience is more than 'how we feel'; it should be an analysis of the degree of agreement between action and principles. Dr Jarmulowicz cited the oft-quoted Four Principles of Medical Ethics (Beauchamp and Childress), that one should aim to: benefit, do no harm and promote autonomy and justice (fairness in the distribution of benefits and risks). However Beneficence is the obligation to provide benefits balanced against risks, respect for autonomy is the right of the individual to make choices about his or her own life in the context of equal respect for everyone else involved.

Principles can sometimes be in conflict. They cannot logically be of equal value and be in conflict, and therefore there must be a hierarchy of values. Without life, you cannot benefit from any other human 'goods', and so 'right to life' must be the primary right, Dr Jarmulowicz argues. This then begs the question of what Human Rights and who is eligible? What is a person? The definition of personhood has logical consequences. He argued that to be of any meaning or value, Human rights must be universal and derive from our nature. Rights cannot be 'granted' by a state. True 'human rights' are inalienable.

One of the objections which have been raised to IVF and PGD has been that it accords a low value to the human embryo. Evidence of this is that the process is wasteful. To illustrate this Dr Jarmulowicz cited the European Society for Human Reproduction and Embryology 3 year summary of PGD cycles (excl screening for aneuploidy). Of 10168 embryos fertilised, only 2% resulted in a live birth.

He also discussed this issue of saviour siblings, children born as a result of selection on the basis of being a potential donor of blood or stem cells for a sick sibling. HLA typing in UK for this purposed is not authorised on its own, but it has been allowed in conjunction with genetic testing. He cited the case of HLA typing for Fanconi's anaemia used by Nash family (USA): 30 embryos were tested from 4 IVF cycles and 24 found to be unaffected. Only 5 were unaffected and of compatible HLA type. A daughter was born after 4 attempts at implantation at cost of US $40,000.

Finally Dr Jarmulowicz raised the spectre of the 'Slippery Slope'. PGD, he argued is for 'Serious genetic disease' If this includes Huntingdon's disease or breast cancer, then what is the logical bar to prevent an increasing range of conditions to be included?

Dr Jarmulowicz concluded that the right to life is inalienable ' it has little meaning if it can be granted or revoked by the powerful. Problems of defining qualities of personhood have logical consequences across the whole of life, 'Once objectivity is lost, then progression down the slippery slope is inevitable and a logical progression.

When in doubt, we must accord personhood, unconditional dignity, and inalienable rights to all beings of human origin, lest we cause unconditional harm to both individuals and the culture.'

'Genetic Futures, Genetic Ideologies'

Finally everyone's ethics of the situation were challenged and analysed by Dr Richard Ashcroft from Imperial College, London, with a talk entitled 'Genetic Futures, Genetic Ideologies'. He described four Key Ideologies in 'Genethics': Liberty, Perfectibility, Utility, and Dignity.

Autonomy, freedom, choice holds that people should be free to pursue their vision of the good life in their own way, without undue interference from other individuals, groups or the State. It is limited by a harm principle. PGD should be permitted unless there is probable harm to some party, over and above 'baseline'. Dr Ashcroft asks of libertarians 'Can the harm principle admit of objective testing? What is a harm, who is to judge, are all harms commensurable? Do unintended consequences of free choices matter? Do aggregate consequences of free choices in communities matter?'

Perfectibility holds that human perfection in all its forms should be pursued and it is possible to define perfection(s).

Perfectionists hold that even if perfection is unattainable, it sets a standard for improvements, which should be pursued energetically and PGD should be encouraged, subject to perfectionist tests of the aims to which it is put. He asked Perfectionists, 'Do we share a common conception of the good or the perfect? Is the pursuit of perfection self-defeating? Does the pursuit of perfection actually lead to oppression and misery? Would 'the perfect human' be human at all, and if not, would that matter?'

The utilitarian view holds that we should act so as optimally to promote aggregate (or average) human welfare

'Each person counts for one, and none for more than one' Preventing preventable illness or mortality is obligatory and therefore PGD is obligatory to prevent serious probable harm, and permissible to promote welfare-enhancing traits.  The latter may become obligatory. He asked the following questions of Utilitarians, 'Can we agree on a common conception of welfare? Is welfare unitary? Or are there different 'goods'? Can what is good for all really involve harming some?'

Dignity (sanctity, property X) is what all and only humans possess, conferring absolute value on us. PGD implies that some of us are more to be valued than others, and is therefore inconsistent with respect for dignity. Respect for dignity may permit killing in self-defence or in situations of 'tragic choice'. Respect for dignity might require respect for autonomous choices of rational agents, but still reflects a constraint on such choices. He asked Dignitarians 'Is there really something which all and only humans share which grounds a value? Can 'dignity in agency' and 'dignity in vulnerability' be reconciled? Does 'dignity' collapse into autonomy? Is dignity just a 'conversation stopper'?'

Dr Ashcroft told us that some 'thick' issues not touched directly by the Four Ideologies, such as the range of values considered (e.g., libertarians tend to emphasise values instrumental to personal effectiveness), the relative emphases on values considered, the social context of choices and power relationships and the 'thickness' of descriptions of what we value and why. He concluded that moral values in practice are thick conceptions of the good. Different ethical practices and combinations of value may be consistent with such values. PGD may not be unethical, but it will involve some re-conceptions of 'the human'. The fundamental requirement on rational agents in moral uncertainty is respectful discussion.

At about 9 p.m. the meeting belatedly closed with a reception.


In the Guy's King's and St Thomas's Medical School Curriculum, Ethics & Law relating to Human Reproduction is covered as a 'vertical strand' subject introduced during the pre-clinical course and then continued in the clinical course during the second clinical year. The topics are taught in a mixture of lectures, tutorials, seminars and multi-disciplinary symposia. They include:

Some reading suggested by Prof. Sirrat for anyone interested in this area:

Ethics and law in Obstetrics and Gynaecology, Stirrat G et al. Notes on O&G 5th edition. Churchill Livingstone 2003 How to approach ethical issues- a brief guide, Stirrat G. The Obstetrician & Gynaecologist 5; 214-7, 2003

 To find out more about the GKT Medical Ethics Group, please visit

The GKT Medical Ethics Group is a forum for ethical discussion and debate run by Students and Staff at Guy's King's and St Thomas's School of Medicine, Dentistry, and Biomedical Science, it is unaligned with respect to politics, religion or denomination.

The Student Members' Group is the representative body for student members for the Royal Society of Medicine. To find out more visit