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Ante Natal diagnosis |
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Genetic
testing, screening and 'eugenics'
A Genetic Interest
Group Policy Paper
Advances in genetic diagnosis—specifically, the ability to
test for a growing number of genetic disorders—combined with
new reproductive technologies, have made possible an expansion
of both ante-natal genetic testing and pre-implantation genetic
diagnosis (PGD). Whereas women in families affected by a genetic
disorder previously had to either rely on fate or forego having
children, they can now choose to have their fetus or fertilised
egg tested for the disorder. As a consequence, the reproductive
confidence of those affected by genetic disease has increased.
These procedures fall far short of the therapies and cures
that GIG looks forward to. Nevertheless, in our view they
do represent an important advance. We also view favourably
the enhanced choice experienced by women as a result of the
development of screening services offered to those without
a family history of a disorder.
However others—from the established churches and traditional
conservatives to some feminists, academics and disability
rights activists—see a negative side to testing and screening.
They believe that women are being coerced into testing, and
that pre-implantation and pre-natal testing encourages discrimination
against disabled people. A parallel between the new genetics
and the eugenics of old is often drawn. For example, a report
by the National Childbirth Trust published in 1997 claimed
that the 'right of parents not to have ante-natal testing
is being undermined by health professionals.' This message
was reinforced by a study by four leading UK authorities on
genetics in the same year. They claimed that professionals
in the field were not following the official policy of non-directiveness
in genetic counselling. In the press comment on both reports
an equation was made between directive counselling and eugenics.
Critics of the new genetics argue that the explicit form of
pressure exerted by directive counselling is reinforced by
more subtle economic and cultural processes. Indeed, whereas
in the past eugenics took the form of outright, state-led,
coercion, today, they argue, it results in the main from the
marriage of market forces and genetics.
In his book Brave New Worlds, the journalist Bryan Appleyard
puts it like this: 'so what we face here is, in fact, the
opposite of state-sponsored eugenics. This is the eugenics
that happens when the state is specifically excluded from
reproductive decisions. It is the eugenics of the free market,
and it results inevitably from a combination of the current
quasi-religious faith in the absolute virtues of unfettered
free markets and the rapid growth of the new genetic knowledge.
The whole point is that we are about to be deluged with offers
of choices… The free market takes over where Nazism left off.'
German sociologist Ulrich Beck is of a similar opinion. Contemporary
barbarism, he writes, 'does not appear on the political stage,
clothed in the familiar garb of brutality. It gains access
through the clinics, laboratories and factories of the new
biochemical industries. Its victory parade does not begin
with street brawls, the persecution of minorities or people's
assemblies, the dissolution of parliaments and the abolition
of constitutions. This time it steps onto the stage of world
history dressed in white coats, of self-confident research,
the good intentions of doctors and the desire of parents to
do their "best" for their children.'
For some, free markets mean free choices. But for the feminist
writer Hilary Rose, 'when medical interventions are particularly
heroic, as with infertility treatments, foetal surgery and
embryo genetic screening, women can find themselves having
"chosen", yet feeling that it was not "this" that they wanted.'
When this happens, she continues, 'both the rights of disabled
people and the complexity of decision are undervalued.' In
her view, in the age of genetics 'the old and powerful mechanism
of devaluing the victims and blaming mothers has been activated.'
The aim of this paper is to present a different, more positive,
picture of the origins, purposes and character of modern genetic
testing and screening. We begin with a brief overview of the
services offered, the patient needs they meet and the legal
position regarding the services in the United Kingdom.
Ante-natal testing and screening are now available for an
increasing number of genetic conditions. The tests are becoming
more accurate and can be carried out at earlier stages of
pregnancy than previously. Indeed it may soon be possible
to isolate a few fetal cells from the mother's blood, thus
removing the small risk of miscarriage that accompanies current
procedures. Broadly, three classes of women use the service
at present:
(1) Those who have already had an affected child or who have
a known family history of a condition and therefore know that
they are at high risk for producing another child with the
same condition.
(2) Those with no family history but who are at higher than
average risk of having a child with a specific condition for
a particular reason. Examples include maternal age and exposure
to noxious agents.
(3) Those undergoing ante-natal screening, during which a
problem with the fetus is detected.
Pre-implantation genetic diagnosis is a more recent development,
and is less widely available. In her new pamphlet for the
Progress Educational Trust—Designer myths: the science, law
and ethics of preimplantation diagnosis—Kay Chung explains
the science upon which PGD is based. Crucially, 'the introduction
of gene amplification techniques, which enable diagnosis using
tiny amounts of DNA, means that genetic tests can now be performed
on a single cell taken from the early embryo.' This does not
destroy the embryo, as cells are pluripotent at this stage
of development, which enables the loss to be made up. Approximately
three embryos free from the condition are then implanted.
The process was pioneered at the Hammersmith Hospital in London
in the period 1990-2. It is still a highly specialised service;
in the UK it is only performed at four centres. The first
conditions to which it was applied were X-linked disorders
such as Duchenne muscular dystrophy. Since then it has been
used to test for around ten single-gene disorders. Most recently
PGD has been applied to familial breast and ovarian cancer
as well as some other late-onset cancers.
Primarily, families use the service because they know they
have an increased risk of having a child with a genetic condition,
want to have a child free of the condition, but also wish
to avoid abortion. Technical difficulties notwithstanding,
the invasive and expensive character of the procedure (it
is not provided on the NHS) limits demand for the service.
Unlike ante-natal testing, health services do not offer a
screening service using PGD.
The Legal Position
The law on termination for fetal abnormality is set down in
The Abortion Act 1967 as amended by the Human Fertilisation
and Embryology Act 1990. Prior to 1990, the maximum gestation
at which abortion for fetal abnormality could be provided
was limited by the Infant Life (Preservation) Act 1929, but
this restriction was lifted by the Human Fertilisation and
Embryology Act, and such abortions are now possible at any
gestation if the specified criteria are met. The Royal College
of Obstetricians and Gynaecologists spells out what those
conditions are and what they are taken to mean:
The amended Abortion Act allows two medical practitioners,
acting in good faith, to certify that a pregnancy can be terminated
at any gestation if '… there is a substantial risk that if
the child were born it would suffer such physical and mental
abnormalities as to be seriously handicapped'. If these criteria
are not met, termination after 24 weeks is permissible only
if necessary to prevent grave permanent injury to the physical
or mental health of the pregnant woman or if the continuation
of pregnancy would involve risk to the 'life' of the pregnant
woman, greater than if the pregnancy were terminated. By contrast,
up to 24 weeks, the Act allows a pregnancy to be terminated
if 'the continuation of the pregnancy would involve risk,
greater than if the pregnancy were terminated, of injury to
the physical or mental health of the pregnant woman or any
existing children of her family.'
PGD is legal in the UK. It is subject to regulation by the
HFEA, although the exact terms of regulation are currently
evolving. There is no specified list of conditions for which
PGD is or is not allowed. In a joint report on the subject
published recently, the HFEA and the Advisory Committee on
Genetic Testing outlined a serious of issues on which they
want to hear the views of the public.
There have been attempts both to tighten the law on selective
termination and to define it more sharply: attempts have been
made to define 'serious' as 'whether or not the 'child to
be' would have a life worth saving through medical intervention',
and as 'whether or not it would be legitimate to withhold
treatment from a child in the same state as the embryo, even
though this might result in death'. But if conditions were
drawn up for which ante-natal testing and termination on the
grounds of fetal abnormality were or were not allowed, people
would be denied the opportunity to make the choices appropriate
to their family. Such a denial of choice would be discriminatory.
Moreover, if, in particular, women were denied the opportunity
to be tested ante-natally for certain conditions, it might
put pressure on some to have abortions who otherwise would
not. Accordingly, GIG opposes any attempt to set down conditions
for testing and termination.
In relation to pre-implantation diagnosis, the issues are
more straightforward: if it is a matter of implanting three
fertilised eggs out of a greater number, it seems to GIG sensible
to implant those free of known genetic conditions. Most people
would want to make that choice, and when it is possible to
maximise the chances of a healthy child it appears to GIG
to be perverse not to do so. There is no 'slippery slope'
because there are no difficult cases: it is good to avoid
any and all disease, and that includes predisposition to disease
in later life. Accordingly, GIG opposes any and all attempts
to restrict the range of medical conditions for which pre-implantation
diagnosis can be performed. Of course, PGD is not an easy
procedure, therefore it is highly unlikely that women will
start requesting PGD for what the critics of the procedure
call 'trivial' reasons.
Under Pressure to Test and Terminate?
The critics of genetic testing would regard the picture painted
above as unduly rosy. Part of their argument is that women
are pressurised first into genetic testing and then into termination
if the test is positive. One result of this, they argue, is
a high level of anxiety and distress for the woman and her
family.
Meg Stacey presents evidence of direct pressure to terminate
in her article 'The new genetics: a feminist view'. She draws
on Jo Green's 1993 survey of the attitudes of obstetricians
to access to prenatal diagnosis. Obstetricians were asked,
'Do you generally require that a patient should agree to the
termination of an affected pregnancy before proceeding with
amniocentesis/chorionic villus sampling (CVS)?' A third (34%)
of 375 consultants said 'yes'. Ruth Hubbard makes a more general
argument along the same lines. It is her belief that while
society does not uphold the collective against the individual,
'we come mighty close when we once again let scientists and
physicians make judgements about who should and who should
not inhabit the world and applaud them when they develop the
techniques that let them implement such judgements.'
Disability rights activist Tom Shakespeare highlights the
anxiety he believes is caused by such testing and pressure:
'I support a woman's right to choose, but believe that abortion
is a traumatic route of last resort. Now that pregnancy is
increasingly "provisional", and thousands of couples are offered
information leading to termination, the area of reproduction
is becoming filled with anxiety and ethical complicity.' Prospective
parents, he adds, 'join a conveyor belt without having the
opportunity to consider their situation. Prejudice becomes
the basis for policy. Genetics becomes the pretext for discrimination.'
In Hubbard's view, taking the example of Huntington's disease
to illustrate a more general point, 'the existence of this
test puts people with a family history of Huntington's disease
in an outrageous position.'
Meg Stacey is undoubtedly right: some obstetricians do put
such pressure on women, and GIG is firmly opposed to this.
But two corrections are needed to the impression that might
be given by the 1993 survey. Firstly, other medical professionals
working in the field are more sensitive to the needs of women
undergoing ante-natal testing, geneticists in particular.
Secondly, as Stacey herself points out, the proportion of
obstetricians who operate in such an explicitly directive
way is falling quite rapidly—in 1993 the proportion was 34%,
but in 1980 it was 75%.
Another way to examine the issue of direct pressure is to
take notice of the experiences of the women concerned. Helen
Statham and Wendy Solomou at the Centre for Family Research
in Cambridge are engaged in a project which is doing just
that. Writing in The Lancet they report that so far their
study has shown that 'most parents do not report pressure
from doctors to terminate affected pregnancies.' The National
Childbirth Trust argued the opposite when they presented their
research on the subject in 1997. However, their own evidence
does not seem to support their stronger claims: only 10% of
women said they felt pressurised into taking a test, and only
1% refused.
It is GIG's view that in general women are not pressurised
either into testing or termination. Women are glad that the
service is available because they genuinely want to have the
choice whether or not to take the tests that are on offer.
In GIG's experience this is particularly true for those with
a family history of a disorder. Of course Hubbard is right
that deciding whether or not to test for a terrible disorder
such as Huntington's disease is very stressful, but it is
not the existence of the test which places the family in an
'outrageous position'. Rather, it is the fact that the disease
runs in the family that is the problem and the primary cause
of anxiety. The availability of the test, and for some the
taking of the test, is a means to resolve some of the dilemmas
created by this fact. For women without a family history of
a disorder, the high uptake of screening tests for conditions
such as Down's syndrome by those who face a higher than normal
risk simply because of their age suggests to GIG that most
women would prefer these services to be available.
None of the above should be taken to imply that GIG believes
that the service is free from problems, but GIG does believe
that the problems should not be exaggerated. There also needs
to be a recognition that however much women want the service,
the process is bound to cause them some anxiety: professionals
see their job as being on the lookout for problems; women
go into the process assuming that everything is fine in the
case of a routine process or hoping that everything is fine
if they are at high risk. These different expectations inevitably
colour attitudes towards the service.
But what about more indirect forms of pressure? The point
is often made that women are pressurised into being tested
in more subtle ways; more specifically that social and cultural
norms, or simply the lack of resources afforded to people
with disabilities, inevitably create a pressure on women to
test and then terminate affected pregnancies. The suggestion
is that screening in particular does not extend choice but
rather restricts it by demanding conformity.
So for Ruth Hubbard, 'to the extent that prenatal interventions
implement social prejudices against people with disabilities
they do not expand our reproductive rights. They constrict
them.' Similarly, Abby Lippman suggests that if there were
greater support from society for people with disabilities,
women might be more likely to choose not to terminate affected
pregnancies, but that at present technological advance combined
with insufficient social support implicitly force women to
undergo testing and termination, which they find a burden.
Accordingly, argues Tom Shakespeare, 'although antenatal testing
supposedly offers choice and information to pregnant women,
there is implicit pressure to eliminate affected fetuses:
decisions are not taken freely or on the basis of balanced
information about disability.'
It is undoubtedly the case that for many women the decision
to terminate an affected pregnancy is a difficult one. In
this sense it is a burden for them. But it would be wrong
to conclude that it is a decision they feel they have been
coerced into. As Dorothy Wertz and John Fletcher, two American
specialists on the subject, have pointed out, pressure from
women helped to create many of these services in the first
place. Interestingly, Wertz and Fletcher make the further
point that women exercise more choice and control in this
area than they do in other areas of medicine.
The notion that women are implementing social prejudice if
they decide to terminate, acting in ignorance of the realities
of disability, makes little sense in the context of the families
represented by GIG, many of whom already have a child with
a genetic condition and decide to terminate a later pregnancy
so that they can offer the necessary care to the first child.
They may find it a difficult decision to make, but it is a
decision that is made based on a combination of concerns for
their own future and first hand experience of the quality
of life a child with the disorder would have.
If society were to devote more resources to helping people
with disabilities then some women might make different decisions,
but it is reasonable to assume that many women would simply
want a healthy child regardless of social attitudes towards
and resources allocated to disabled people. In any case, it
would be wrong to restrict testing in order to make families
at risk of a genetic disorder play the role of 'trail-blazers'
for better resources.
In GIG's view, the danger may lie in the opposite direction
to the one highlighted by the critics of ante-natal genetic
testing and screening. It is our experience that many parents
are left to make their decisions in a vacuum because health
professionals fear being seen as directive if they fully discuss
the available options. Genetic counselling is concerned with
facilitating informed reproductive decisions. Following the
eugenic experience prior to World War II, the emphasis has
always been placed firmly on the 'non-directive' part of 'non-directive
genetic counselling'. This is as it should be. But we would
introduce some caveats:
(1) There is a danger of making anything appear directive:
some say presenting testing as part of ante-natal care is
directive, or that clarifying likely implications of a condition
is directive; or that ensuring that risks are properly understood
is directive. All these procedures should rather be seen as
perfectly reasonable features of patient care, and quite consistent
with the goal of informed choice. We note that in a recent
study patients expressed satisfaction even when they thought
aspects of their care were 'directive'.
(2) We cannot avoid the fact that the primary choice offered
by these services is the choice to avoid having a child with
a genetic condition—and that this is the choice made by most
people. If this is directive then non-directive genetic counselling
is impossible (a majority of delegates to the Third European
Meeting on the Psychological Aspects of Genetics, held in
1992, took this point of view).
(3) A rigidly applied policy of non-directiveness may not
meet patients' needs in all circumstances. If a family is
unaware of the nature and implications of the condition that
may affect a future child and if the goal is indeed informed
choice, then it is the duty of the health professionals to
present the family with the facts; to inform them about the
reality of the condition.
A New Eugenics?
For GIG, selective termination and pre-implantation genetic
diagnosis do not imply a negative judgement about the worth
of people living with disabilities. Nor do they imply a neglect
of the needs of disabled people. But for the critics of genetic
testing, unfair discrimination and a broader 'eugenic' mind-set
is an integral part of modern genetics. There are a number
of aspects to the argument, which is put with varying degrees
of vigour by different critics; and clearly, whether or not
modern genetics is thought to be 'eugenic' will depend on
what that emotive term is taken to mean. In this section we
cannot hope to do justice to the full range of opinion and
writings on this subject, but we do hope to establish that
the values of modern medical genetics are fundamentally different
from those of the main strands in historical eugenics, and
that approval for genetic testing prior to birth is compatible
with equal treatment for people living with disabilities.
Francis Galton defined eugenics as 'the scientific study of
the biological and social factors which improve or impair
the inborn qualities of human beings and of future generations.'
Such 'study' suggests a practice of eugenics. A modern definition
might be any policy that alters the composition of the human
gene pool. The philosopher Philip Kitcher develops this interpretation
in his thoughtful book The Lives to Come: the genetic revolution
and human possibilities. He then subdivides the notion into
different types. Interestingly, he also characterises doing
nothing when we have the ability to do something as eugenic.
At this point the critics of genetic testing part company
with him. For them, eugenics is about humanity changing the
gene pool, specifically reducing the incidence of genetic
disorders, whether government policy or the aggregate of individual
decisions brings this about.
Both Kitcher's and the critics' notions have their merits.
But posing the issue in such a general way also tends to obscure
crucial differences between historical eugenics and modern
genetics. At the turn of the century there was a widespread
belief that genetics influenced morals and personality traits.
The preoccupation was with controlling the spread of these
traits, rather than medical conditions. Eugenics of old was
a programme for a coercive, state-led drive to alter the gene
pool. It was used to justify the sterilisation, and even murder,
of people classed as mentally insane and genetically inferior.
At the time, not enough was known about genetics and disease
/ behaviour to highlight the scientifically irrational character
of many of the eugenic proposals. However, enough was known
about population genetics by 1920 to invalidate, on scientific,
never mind humane grounds, eugenic arguments for sterilisation.
That such programmes continued regardless highlights perhaps
the most important point to understand about the dominant
strand of old eugenics: it was driven neither by science nor
by humanitarian concern but by a strong political belief and
fear—of national, racial, and social decline. As the historian
Daniel Kevles puts it, using the example of Britain at the
turn of the century: 'To many British, the general fiber of
the nation—its overall moral character, intelligence, energy,
ambition, and capacity to compete in the world—was declining.'
After the Second World War, eugenic practices did continue
for some time, up until the 1970s in the case of Sweden. Eugenicists
did seek to pursue their goals through the new field of reproductive
and genetic counselling. And some people do still believe
that the moral worth and future of nations depend upon genetics.
But in GIG's view the predominant ethos of all work in human
genetics today, and in medical genetics in particular, has
little or nothing in common with historical eugenics.
The new genetics is concerned more with identifiable medical
diseases than with personality traits and behaviours. It represents
a biological approach to biological problems, not a reductionist
approach to the whole human being This is not to say that
modern behaviour genetics and the genetics of mental health
are marginal fields of inquiry; they are not. But leading
researchers in the field understand the limited contribution
of many different genes. Their study is primarily individual
variation, not purported race or social-group differences,
and very few working in the field link genetics to ideas of
racial or national success and failure. Finally, these fields
do not impinge on services offered prior to implantation or
birth.
Of course, and to repeat the point, some people do interpret
some areas of genetics in ways akin to historical eugenics—although
cultural theories of group difference and degeneration are
more popular today than genetic ones—but that is purely an
interpretation of the science and not the science itself.
To conflate the science with historical eugenics does a disservice
both to modern genetics and to history.
In GIG's view, both the ethos and the science of medical genetics
are quite different from historical eugenics. Medical genetics
is neither 'reductionist' nor morally discriminatory. Rather,
the underlying spirit of the field is to consider people equal
as human beings, while recognising that some have, or are
at risk of producing children with, a medical condition. Clearly,
selective implantation and termination are not 'cures'. However,
the spirit of the new genetics is a search for the alleviation
of disease and suffering, which often takes the path of pre-implantation
diagnosis or selective termination of pregnancy precisely
because cures are not available. The attitudes of parents
and, in large part society as a whole, to fetal abnormality
reflect attitudes towards illness—we feel sympathy for the
ill and we want to cure them. We do not want to eradicate
them.
The individual choices parents make may alter the gene pool
in a very limited way. But the spirit driving those choices
has nothing in common with that which drove the old eugenics.
Governments provide genetic services with expectation of health
gain from the avoidance of disability. There is nothing wrong
with this, so long as, unlike under the eugenics of old, parents
remain free to make their own choices.
Choices and Discrimination
Diagnosable genetic disorders are always likely to remain
a small proportion of the causes of disability. Even in principle
therefore, pre-birth genetic diagnosis could never be seen
as an alternative to providing resources for disabled people.
But more to the point, given that the motivation underlying
attitudes towards testing before and during pregnancy is not
to marginalize or ignore disabled people, there is no reason
that genetic testing should promote such an attitude. Indeed
in GIG's view genetic testing and screening are not encouraging
neglect of the needs of disabled people. On the level of attitudes,
society today is more supportive towards people with disabilities.
On the level of resources, the problems seem to GIG to be
more to do with government's desire to control public spending
than anything to do with genetics and overt prejudice. That
is why, through our work, we seek both to promote advances
in genetics and to secure equal treatment and better resources
for those living with genetic conditions.
NOTES
Michie, S. et al (1997), 'Nondirectiveness in Genetic Counselling:
An Empirical Study', Am. J. Hum. Genet., 60: 40-47.
Appleyard, B., Brave New Worlds: Genetics and the Human Experience,
London, HarperCollins, 1999: 86.
Beck, U., Ecological Politics in an Age of Risk, Cambridge,
Polity Press, 1995: 32.
Rose, H., Love, Power and Knowledge, Cambridge, Polity Press,
1994: 175, 196.
Chung, K., Designer myths: the science, law and ethics of
preimplantation genetic diagnosis, London, Progress Educational
Trust, 1999: 9. Royal College of Obstetricians and Gynaecologists,
Termination of Pregnancy for Fetal Abnormality, in England
Wales and Scotland, London, 1996: 5. Available at http://www.hfea.gov.uk
Stacey, M., 'The new genetics: a feminist view', in Marteau,
T. and Richards, M., The Troubled Helix: social and psychological
implications of the new human genetics, Cambridge, Cambridge
University Press, 1996: 342.
Hubbard, R., The Politics of Women's Biology, New Brunswick,
New Jersey, Rutgers University Press, 1992: 196.
Letter to The Guardian, 19 February 1997.
Hubbard, R., op. cit.: 197-198.
Statham, H., Solomou, W. (1998), 'Antenatal screening for
Down's syndrome', The Lancet, 352: 1862.
Hubbard, R., op.cit.: 199.
Lippman, A. (1992), 'Mother Matters: A fresh look at prenatal
genetic testing', Issues in Reproductive and Genetic Engineering,
5(2): 141-154.
Shakespeare, T., 'Eugenics? Slipping down the slope', Splice
of Life, December 1998/January 1999.
Wertz, D., C., and Fletcher, J., C., 'A Critique of Some Feminist
Challenges to Prenatal Diagnosis', www.shriver.org/Research/SocialScience/Staff/Wertz/critique.asp.
Michie, S. et al (1997), 'Nondirectiveness in Genetic Counselling:
An Empirical Study', Am. J. Hum. Genet., 60: 40-47.
Kevles, D., In the Name of Eugenics, University of California
Press, Berkeley and Los Angeles, 1985: 73. |
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