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Submission from CMF in response to the Human Genetics Commission on Choosing the Future: Genetics and Reproductive Decision Making

Published: 15th November 2004

Introduction

Christian Medical Fellowship is interdenominational and has as members more than 5,000 British Christian doctors in all branches of the profession. Through the International Christian Medical and Dental Association (ICMDA) we are linked with like-minded colleagues in well over 100 other countries.

We regularly make submissions on ethical matters to Governmental and other bodies and are grateful for this opportunity to comment on this consultation. Past submissions are available on our website at www.cmf.org.uk/ethics/submissions/

Summary

The main points in our submission are as follows:

1. All people with congenital disability, genetic or otherwise, should be treated with the utmost respect at all stages of development. Resources for their treatment, care and support should be a top healthcare priority. Any policy that has the effect of identifying and eradicating groups of individuals with certain conditions from our community, whether based on expectation, coercion or free choice, is essentially eugenic.
2. Screening of embryos and fetuses as a prelude to disposal or termination, if it is to be allowed at all, should only be carried out for disorders qualifying under section 1(1)(d) of the Abortion Act 1967 (ie. 'there is a substantial risk that if the child were born it would suffer from physical or mental abnormalities as to be seriously handicapped') In addition 'serious handicap' must be objectively defined.
3. Provision of screening tests for termination for any given condition should never be carried out at the expense of providing proper treatment, support and palliation for existing individuals with that condition (see later comments on cystic fibrosis).
4. No screening for any given condition should be offered unless there is proper provision for all parents being screened to give fully informed consent to screening, to discuss with a fully trained genetic counsellor the implications of the diagnosis, prognosis and intervention/treatment options, and to have the time and support to consider available options and come to a decision.
5. We believe that most antenatal screening currently being carried out in General practice and in antenatal clinics is being done without fully informed consent or adequate counselling and that a conveyor belt system of 'prenatal eugenics' already operates. This needs to be urgently addressed before genetic screening is made available for more parents or for a broader range of conditions.
6. We are gravely concerned that widely available prenatal screening for termination will lead to the eradication of whole categories of people with specific genetic disorders from our community and subsequent stigmatisation, discrimination against and inadequate support for individuals and families who are perceived as 'escaping through the net' and thereby creating an intolerable burden for society.
7. Primary prevention (ie. genetic screening of sperm and eggs or advising parents not to have children), encouragement of adoption, and tertiary prevention (treatment of handicapped individuals prenatally or postnatally) are ethical alternatives to so-called secondary prevention (prenatal diagnosis and disposal/abortion) that should be vigorously promoted and adequately resourced.

A. Population screening in pregnancy

Question 1

Prenatal screening tests for fetal abnormality enable doctors and parents to make choices about treatment options (in the case of anomalies that are amenable to prenatal medical or surgical correction, for instance) and the timing (elective procedures such as Caesarean section, induced labour or abortion as opposed to spontaneous labour), mode (normal, instrumental or surgical delivery), and place of delivery (eg. a neonatal intensive care unit or hospital with the trained personnel and facilities to perform sophisticated surgical procedures antenatally or neonatally). They also help parents to prepare (physically, emotionally and mentally) for a baby with short, medium or long-term medical and/or educational needs.

Any antenatal screening tool that allows for health benefits to the child and/or mother is to be welcomed. However, as always, risks to patient and fetus have to be balanced against benefit. The varying degrees of sensitivity and specificity of specific tests within the constraints of the technology available also need to be taken into account. The UK National Screening Committee Criteria for appraising the viability, effectiveness and appropriateness of any screening programme should in general be followed.

Most controversially, prenatal screening also offers the choice to terminate a pregnancy or discard an effected embryo. For many Christians, termination of pregnancy is unacceptable for ANY fetal abnormality. For others, it is only acceptable for very serious disorders or those that are invariably fatal. Whilst accepting that the 1967 Abortion Act allows abortion for serious handicap we have particular concerns about the increasing number of non-serious conditions for which both PGD and PND will become available.

Which conditions are serious enough to warrant testing or screening?
Much current research into genetic causation involves disorders and characteristics that do not qualify as 'serious handicap' in the accepted sense of the term. As a general rule testing should be only carried out for disorders qualifying under section 1(1)(d) of the Abortion Act 1967 (ie. 'there is a substantial risk that if the child were born it would suffer from physical or mental abnormalities as to be seriously handicapped') Performing tests for conditions that fall outside the domain of the Abortion Act not only wastes limited resources and poses unnecessary medical risks to mother and fetus, but also lends support to the false notion that destroying individuals on grounds of non-serious handicap is legally and ethically acceptable. This substantially moves us down the slippery slope to eugenics. There is an urgent need to define 'serious handicap' objectively for the guidance of health professionals, parents and society.

The recent public outcry about late termination of pregnancy for cleft lip/palate (Joanna Jepson case) and the screening of embryos for FAP and tissue type exemplify these worries. We are also gravely concerned that resources for care of patients with special needs will be redeployed to fund 'search and destroy' technologies. Recent publicity has highlighted, for example, that the care of patients with cystic fibrosis is grossly under funded on a national level (despite major treatment breakthroughs being made - the average survival of people with cystic fibrosis is now 31), whilst more and more resources are being directed towards eradicating individuals with the disease before birth. We therefore recommend that any disorders screened for be of such severity that they fall within section 1(1)(d) of the 1967 Abortion Act. We do not believe that Cystic fibrosis and Down syndrome fall within this definition.

What resources are involved? What is the best use of resources?
Increased prenatal screening will require considerable financial and human resources, not only to implement testing, but even more importantly to ensure that parents are in a position to give fully informed consent and also to carefully weigh intervention and treatment options. Patients' knowledge of complex genetics is usually rudimentary unless they have a medical background themselves. Explaining screening tests, along with diagnoses, prognoses and treatment options for various conditions in a suitable manner, without inducing undue fear or anxiety or being directive or manipulative in any way, will require time that most doctors do not currently have. If parents feel they are being coerced or forced into making decisions, without being properly informed or having time to think carefully through their options, there could be serious legal repercussions for the NHS.

Carrier screening
The antenatal clinic is a bad place from which to screen for heterozygotes for Sickle cell anaemia and Cystic fibrosis, as there is already a pregnancy underway - those found to have a 25% risk of having an affected child have fewer options and little time in which to make long-lasting decisions. More effort should be put into screening for carrier status at an earlier stage – in general practice, family planning clinics, and schools – despite the known difficulties of these approaches. Screening for Fragile X in particular should not be undertaken in the antenatal clinic, as carriers are often vulnerable women with little support who may feel easily coerced into action they later regret.

Question 2

• Is adequate counselling provided?
• Is sufficient and appropriate information offered at all stages of the process?
• Is the information provided fully accessible to all groups in the community?
• Is counselling non-directive?

We have grave concerns about the standards of information, counselling and support currently being offered in GP surgeries and antenatal clinics and believe that a major objective evaluation should be carried out. The above questions could be answered by random and surprise testing of antenatal clinics. Issues of concern are: the quality of the written information provided; whether the appropriate vernacular is used in areas with ethnic populations; availability of varying levels of information depending on the educational status and other abilities and needs of the patient population; the time allocated for doctor-patient dialogue; how thoroughly and in depth patients' questions are dealt with; and finally, patients' understanding after consultation. A before and after questionnaire would be appropriate in this regard - patients could be asked to fill out a form both prior to and after consultations - indicating to what extent their comprehension of the situation improved post-counselling.

Women who are pregnant for the first time often come to their GPs in an anxious state because they are unsure of the process of antenatal care. They have many questions and yet GPs only have 10 minutes or so to carry out a general examination and complete a booking form. There is little time to inform the woman of the tests that she will be offered at the antenatal booking clinic at the hospital and experience suggests that women could do with more advance warning and time to think through the implications of the tests, the risks associated with them and their ethical position in the various outcome scenarios.

The way most women are informed about the triple test and scans for Down syndrome gives them little room for manoeuvre. If the risk of having a baby with Down syndrome or spinal tube defect is greater than 1 in 200 women will generally be offered an amniocentesis which itself carries up to a 1% risk of miscarriage!

The 20-week fetal anomaly scan is usually sold to the woman as an opportunity to see the baby moving in the womb. The shock of finding out that something may be wrong is often huge. 'Informed consent' has been the mantra of the last decade in medical practice but the average antenatal clinic falls a long way short of providing it. Several of our members have reported cases of Christian women who have thought things through and declined the triple test on the basis that even if amniocentesis proved positive they would not proceed to termination. In such cases the midwife and doctors have often seemed unable to comprehend why they would not wish to take the test because expectant mothers decline termination so rarely (currently over 95% of all Down syndrome children diagnosed antenatally are aborted). This has resulted in a 'conveyor-belt mentality' in clinics, making it very difficult for parents to make a choice other than termination as it seems to be built into the ethos of antenatal care that perfect babies are the ultimate goal. Responsible parenting, it is argued, starts by ensuring society does not have to carry the financial burden of a disabled child.

Parents are entitled to be given all the information and time they need to make an informed decision without any sense of coercion or expectation. We would like to see this happening across the country, certainly before screening for a greater range of conditions, or the use of PGD is introduced.

Counselling in genetic clinics is usually of a much higher standard than that offered in GP surgeries or antenatal clinics. Some general comments from geneticist members of CMF with regard to counselling in genetic clinics:

1. Counselling in genetic clinics is likely to be non-directive. More research is needed to see whether this impartial, neutral approach is maintained when midwives dispense counselling. We suggest that specially designated midwives trained at genetic clinics, be employed as part of a multi-disciplinary team directed by these clinics rather than by antenatal facilities that may have their own agendas based on ideological stances.
2. Regarding non-directiveness, although the counsellor may be non-directive themselves, there may still be unspoken pressures felt by parents - societal, financial, familial, or created through ignorance, fear and misunderstanding. Currently, due to prevalent distorted societal norms of perfection and disability, based in large part on media misinformation, there is an inherent perception by both mothers and practitioners that all individuals with abnormalities should be destroyed forthwith by abortion in order to eliminate all future disability in our population. This was highlighted in a recent Sunday Times article that quoted Sir John Sulston, vice-chairman of the Human Genetics Commission, as saying 'I don't think one ought to bring a clearly disabled child into the world'. Sadly this typifies the pressure that many parents feel. One of our members relates that he has met mothers of children with Down syndrome who have had people openly express their disapproval of their decision not to terminate. We are deeply concerned that with wide deployment of prenatal testing and abortion, the parents of disabled children will be increasingly stigmatised and discriminated against. This issue is discussed more under question 3.
3. There is a significant difference between routine prenatal screening offered to the pregnant population at large, and diagnostic testing available only to those at 'high' risk. It is important that women undergoing amniocentesis for chromosome testing be informed that this may detect chromosomal disorders other than Down syndrome, some of which are significantly less handicapping such as Klinefelter syndrome, Turner syndrome, etc.
   
   The tension in 2.11 of the document creates a real challenge for the genetic counsellor. It is important to ensure that it is not implied that the disability in question is not socially acceptable or that an abortion is best considered under the circumstances. In practice, the converse situation is difficult too – in a non life-threatening disorder unassociated with severe handicap, genetic counsellors might feel obliged to suggest testing so that families are offered 'informed choice'. However, the important thing to remember with regard to choice is, 'What choice does the fetus have?' and 'Who should be an advocate for the fetus?' The genetic counsellor/obstetrician often has to play this very significant role.
   
   Routine prenatal screening is testing offered to the general population for specific disorders such as Down syndrome that are deemed to be socially unacceptable. Such pan-populace testing of patients deemed not at risk, definitely gives credibility to the charge of eugenic testing with the idea being to eliminate all Down's children across society as a whole. The number of Down syndrome children currently being born has fallen by over 50% with over 95% of parents with affected pregnancies currently opting for termination. Making routine testing available would inevitably lead to the virtual eradication of all Down Syndrome children from our community and pressure to extend this policy to other genetic conditions.
4. Patients should be referred to the clinical genetics service only at their request and purely out of personal choice, because of a family history of a disorder – it is then the geneticist's role to discuss their risks and options, without judging or being directive in any way. In these circumstances, the medical and genetic counselling professions are being impartial and non-judgemental about the disability being tested for.
5. Those professionals involved in referrals to Clinical genetics facilities need appropriate training in exploring family history so as not to give the impression that any and all disorders or disabilities uncovered in the family should by default be considered for prenatal testing. When families are so referred, a genetics counsellor should initially seek to assess their existing perspective on the disorder, and this would influence the approach adopted in counselling them.
6. In clinical genetics the only time that one actively seeks to offer testing is in the genetics register situation. This is different from prenatal screening for Down syndrome etc. because:
   a. The people contacted are all at high-risk (as opposed to being members of the general population)
   b. Patients are contacted ideally BEFORE a pregnancy – this means that if they are at high-risk they can be offered a greater variety of choices. If testing is only supplied once a woman is pregnant, her only alternatives are test or no test, followed by continue or terminate pregnancy.
7. Overall therefore this approach provides choice without implying any devaluation of those who suffer the disorder. The idea that an anomaly is not socially acceptable is not usually stated in counselling situations, either by the counsellor or the family. The social issues discussed relate to how the family in question would cope with a handicapped child now and in the future, the impact on siblings, and other relevant issues.

Question 3

Prenatal screening followed by embryo disposal or abortion results in the ending of a human life. The very fact that we tolerate it at all as a society is evidence that many people believe it that it is better to end the lives of some individuals before birth than to provide care for them after birth. This is not because these people believe that the presence of a handicap makes life not worth living (although some do!), but rather because they believe certain categories of people constitute an intolerable burden to others – either to their families, society or a health system that is already overstretched – and therefore should not be born.

Because our society accords less value to life before birth than life after birth, we tolerate embryo disposal and abortion for some conditions when we would regard involuntary euthanasia for babies with the same conditions after birth unthinkable.

This has created a difficult dilemma for us as a society. Most people believe that people with specific handicaps should be given the best possible support and medical care. On the other hand, many people also seem to believe that it would have been better if they had been destroyed before birth.

It is inevitable in this strangely ambiguous moral environment that some people with handicap, or families with handicapped children, will come to believe that others regard them as an avoidable burden. It is also inevitable that they will suffer discrimination or abuse from some people. This will be accentuated if more screening is made available for more conditions. We begin with a legal right to abort a baby with handicap. As more embrace this right there is an increased expectation to abort – evident most clearly in parental responses to being told they have a baby with Down syndrome. The next step is that parents with Down syndrome perceive they have a duty to others to abort.

As we have argued above, those Christian doctors who believe that human life at all stages of development is worthy of the utmost respect, find the whole idea of aborting for handicap anathema. Rather we should be providing the best possible treatment, support and palliative care for those with handicap at all levels of development.

As increasing numbers of parents choose to abort those with handicap, parents who have strong reasons to choose differently (perhaps religious belief, personal experience of disability, strong caring nature) will become increasingly isolated in their choice. Social structures to help these parents may decrease, as there is less call for them, fewer people willing to support them, and an increased feeling that those children 'shouldn't' have been born anyway. We are especially keen to see improvements in the support offered to parents and carers of disabled individuals, and efforts must continually be made to raise society's awareness and compassion in this area. We note with regret the recent report from disability charities that the Disabilities Facilities Grant is in need of an overhaul.

B. Genetic services

Question 4

PND should be governed by the limitations of the current abortion laws ie. high risk of serious abnormality.

PGD - we commented on this in our recent submission to the Science and Technology Committee's Review of Human Reproductive Technologies and the Law, available on our website at www.cmf.org.uk/ethics/submissions/hfeareview_04.htm. Regarding PGD we stated in section 3:

• PGD should be kept for the detection only of serious single gene disorders, although even for this indication societal attitudes are changing with the rise of the disability rights movement and concerns about the use of genetic knowledge for eugenic ends.
• he number of children born following the use of PGD is still very small so its long-term safety has not yet been fully evaluated. PGD should not be used for tissue typing or sex determination. We endorse the overwhelming public support for rejecting sex selection for family balancing either by sperm sorting techniques or PGD.
• The use of PGD and embryo disposal to produce tissue matched donors for siblings with inherited genetic disease such as thalassemia is undesirable due to: the degree of stress on the mother because of the low success rate and need for many eggs; the destruction of embryos in the selection process; the unknown effects on sibling relationships; the expense and technically demanding nature of the laboratory work.

The use of PGD is controversial. As a country, we are still divided about the status of the embryo, and the value and protection that should be given to human life from the time of fertilisation. Decisions about embryo usage have been grounded predominantly in utility arguments, suggesting that there are no ethical limits but boundaries purely dependent on how useful a new technology may seem at the time.

For many Christians, any 'selection' of an embryo as unsuitable for implantation (and hence only suitable for destruction) is unacceptable. Other Christians however view PGD as a genuine alternative to avoiding prenatal diagnosis and termination. On balance we feel that the same conditions of testing should apply to PGD as to PND. In other words, testing should only be available for conditions qualifying under section 1(1)(d) of the Abortion Act 1967 (ie. substantial risk of serious handicap).

Should people have the right to request testing for particular conditions?
At present, professional judgement is based on whether a disorder is considered potentially and clinically serious. However, this is too complex a topic to draw rigid guidelines – counsellors should be advocates for the fetus as well as for the family. But it would help if testing was restricted nationally for conditions within the bounds of Section 1 (1) (d) of the 1967 Abortion Act.

What limits should be set?
In a sense, limits are already currently set by individual doctors – we have certainly had situations where families request consideration of termination late in pregnancy for possible skeletal disorders that Obstetricians have refused to carry out.

We recommend that a line be drawn based not just on pragmatism but on ethical and other considerations that are not utility-based (the latter being the perceived 'usefulness' or otherwise of a handicapped or well child to society) but within the confines of the current Abortion Act.

Question 5

Christian doctors are divided on the issue of donor gametes, with many feeling that any donation of egg, sperm or embryos is unacceptable. However we accept that is legal under the present regulatory framework.

Good donor selection in these circumstances should aim to match for parental characteristics. Selection for different or better than parental characteristics is not acceptable and may not be in the best interests of the child. It seems reasonable that the donor be appropriate for the family background, rather than for any hypothetical 'good' qualities such as intelligence, height, musical or sporting abilities

Deliberately selecting for impairment is not in the best interest of the child either, whatever the parents may feel.

C. Developments in genetics

Question 6

Sperm could be screened to select out those with a genetic disorder. This would make PGD and PND unnecessary for recessive and dominant disorders carried by the father. We are much happier with screening of gametes than we are with screening of embryos, because a human life is not taken in the process.

Microarrays and other technologies may enable/encourage wider screening for less serious genetic characteristics and disorders. The idea of such methods becoming standard for PND (and perhaps even PGD in the future?) is somewhat disconcerting. Is this really the way we want to go? (see previous concerns about the medicalisation of pregnancy).

If extensive testing is to be offered, the less invasive the better - such developments would be welcome providing they offer accuracy (ie. high specificity) and are used wisely and well.

There are real concerns about the application of genetic developments for 'screening' – eg. microarrays. Traditional gene sequencing technology is very slow and expensive and has therefore impeded the widespread use of SNPs as a diagnostic tool. DNA microarrays (or DNA chips) are an evolving technology that would make it possible for doctors to examine their patients for the presence of specific SNPs quickly and affordably. A single microarray can now be used to screen 100,000 SNPs found in a patient's genome in a matter of hours. We feel this would be a counselling nightmare. How does one achieve informed consent for testing for scores of different diseases that the couple have never even heard of?

It would be highly inappropriate to use microarrays to test for SNPs that only 'predispose' to disorders. We have very little idea how individual SNPs interact with other genetic and postnatal environmental factors in the contribution to common disease. We have even less idea how they will interact with in utero factors prenatally - particularly if the 'Barker hypothesis' that the in utero environment is very important in predisposing to many of the common disorders of adult life, is valid.

Question 7

There is a need to focus on serious disorders rather than on the pursuit of trivial matters sought by parents who desire a child 'better' than the normal.

Therefore careful regulation should continue, rule breakers should be brought to book, and development of pre-implantation tests for minor or multi-factorial traits should be disallowed.

Constant vigil needs to be exercised over the question of cost and accessibility, so that we do not become a society where the rich can bear 'better' children than the poor.

Question 8

Selection vs enhancement
Of those Christians who would accept selection by PGD at all, we feel the vast majority would only do so for the avoidance of serious genetic disorders, and not for so-called 'desirable' traits such as height, intelligence and the like. God made us as we are and we thank Him for our individuality and uniqueness. As Christians, we seek to see ourselves as God sees us and to offer back to Him the gifts He has given us, not ones we wish He MIGHT have given us if we were 'perfect'.

Treatment vs enhancement
If in utero therapy became acceptably safe, we consider that the vast majority of Christians would only agree to its use for treating disorders rather than for enhancement of normal phenotypic variants. Under these circumstances, a case could be made for treatment of less serious conditions such as cleft palate or hearing loss if it avoided surgery or replaced the requirement for hearing aids etc. after birth.

Welfare of future child
This is a thorny issue that arises in situations where one member of a couple has a genetic disorder that is highly disruptive to families, such as Huntington's disease. Is it right to use artificial reproductive technologies to allow that couple deliberately to conceive a child who would be brought up in a potentially emotionally difficult environment or where the affected parent may die during their early childhood? One can only say that these questions have to be discussed thoroughly and sympathetically with couples who are seeking such interventions in order to enable them to have unaffected children. We recommend that a more ethically valid option would be to suggest adoption to couples such as these. In the latter case, there is a pre-existing child in need of a loving home as opposed to one that is being specially created solely to fulfil the parents' need to procreate.

Our duties towards future people and future generations
Just as we have a duty of care to our environment in response to God's gift to us of dominion over His Creation, so too we have a moral obligation towards future human generations secondary to His giving us the privilege of creating children. This responsibility includes desisting from tampering with the existing gene pool or seeking to 'improve' it. Hence there have to be objections to in utero and other gene therapy where genes are inserted into the germ-line and passed on to subsequent generations. There are some Christian authors who are accepting of this technology, but we feel the vast majority of Christians would be opposed to such trait-enhancing 'therapy'.

Societal vs individualistic approaches
As Christians, we need to focus on, and prioritise, the needs of society before those of the individual, as it is part of our ethic that individuals prosper who are thriving members of a supportive and loving community rather than a self-centred, self-seeking, individualised one. Therefore we suggest that it is inappropriate to allow legal testing privately, outside the purview of the conditions agreed upon after consultation.

Discrimination and Disability issues
As Christians we are opposed to any tests or enhancements that seek to discriminate against the short, the less intelligent or those with perceived 'undesirable' traits.

The contention that prenatal screening implies an undervaluing of disabled people is a real one. As Christians, we are supportive of all calls for improvements in the facilities and opportunities available to disabled people (including within the church) and opposing any suggestion that such individuals are a burden on society.

Equity – resource allocation
As Christians, we have to be concerned that valuable resources that could be employed for the greater good of the poor, could potentially be spent on high-technology 'designer' treatments for the rich few in poorer countries, or for those who live in wealthy developed nations, to the detriment of those in real need.

The extent of acceptable limitations – reproductive freedom
We would welcome an open debate in society as to what conditions might be considered severe enough to warrant prenatal testing and termination of pregnancy. Many Christians view termination of pregnancy as always wrong whatever the circumstances. At the same time they accept that it is legal in the UK under the provisions of the 1967 Abortion Act. We consider that, at very least, prenatal screening should not be offered to detect genetic abnormalities which would not qualify as 'serious' under paragraph 1.1 (d) of the Abortion Act, unless there is a prenatal intervention other than abortion which could be carried out to improve the health of the baby.

Commercialisation of genetic technologies
We would be very concerned about the availability of testing kits that private practitioners and laboratories could use to offer tests beyond those agreed in the NHS by the National Screening Committee. We recommend that such private testing be disallowed.

For further information:

Steven Fouch (CMF Head of Communications) 020 7234 9668

Media Enquiries:

Alistair Thompson on 07970 162 225

About CMF:

Christian Medical Fellowship (CMF) was founded in 1949 and is an interdenominational organisation with over 5,000 doctors, 900medical and nursing students and 300 nurses and midwives as members in all branches of medicine, nursing and midwifery. A registered charity, it is linked to over 100 similar bodies in other countries throughout the world.

CMF exists to unite Christian healthcare professionals to pursue the highest ethical standards in Christian and professional life and to increase faith in Christ and acceptance of his ethical teaching.