difference and choice: exploring prenatal testing and the use of genetic information with people...

O R I G I N A L A R T I C L E

Difference and choice:exploring prenatal testingand the use of geneticinformation with people withlearning difficulties

Linda Ward, Joyce Howarth and Jackie Rodgers Norah Fry Research Centre, University of

Bristol, 3 Priory Road, Bristol BS8 1TX, UK

Summary Developments in genetics have huge implications for disabled people (including

people with learning difficulties) and their families. On the positive side, there is the

potential for greater understanding of – and ultimately, perhaps, treatments for –

serious conditions like cystic fibrosis and sickle cell anaemia, but there are also

concerns about the negative implications, including the potential for discrimination in

insurance, employment and even life itself. Yet, the voices of those most affected by

these developments – people with learning difficulties and their families, and

disabled people generally – have been conspicuously absent from these debates.

The present article describes two workshops that explained the use of prenatal testing

and genetic information to inform choices in pregnancy to people with learning

difficulties, and then explored the issues with them and the contribution subsequently

made by these people to a national conference on this subject. Methods for explaining

the complex issues involved in an accessible way and exploring them in a supportive

environment are described along with the views of people with learning difficulties

on these issues.

Keywords Abortion, accessible information, Down’s syndrome, genetics, prenatal

testing

‘People with learning difficulties are different to other

people. We get picked on – others make fun of us. People

shout at us in the street sometimes. Black people with

learning difficulties get picked on even more. People

with learning difficulties should be treated fairly and not

discriminated against. Scientists should find the gene

that makes people pick on those who are different. Then

our lives would be better.’ (Participant with learning

difficulties at the ‘Difference and Choice’ workshop,

Bristol, UK)

Introduction

Five years ago, few people who were not professionally

involved in the science of genetics and the areas related to

it (such as bio-ethics) had even heard of the Human Genome

Project. Now, saturation media coverage means that most of

us know that this project aimed to map all the genetic

material contained in human beings. We have heard of the

high hopes held by scientists and others of developments in

the new genetics for understanding and treating conditions

50 # 2002 BILD Publications, British Journal of Learning Disabilities, 30, 50–55

like cystic fibrosis, sickle cell anaemia, and ultimately, com-

monplace but serious diseases like cancer.

At the same time, some of us will have become aware of

the possible negative implications of some scientific advan-

ces: the general suspicion surrounding genetically modified

crops and the revelation that some new scientific interven-

tions with individuals may be less safe than we had hitherto

presumed. For example, 18-year-old Jessie Gelsinger, who

volunteered for a gene-based medical treatment in Arizona,

died during trials in September 1999, amid revelations of

alarming examples of unethical practice in the conduct of

those trials, including the lack of full information about

the risks involved being made available to the patients

recruited (Meek 2000). There has also been increasing

public concern about the race by research and development

companies working in the field of new genetics to patent

the discoveries that they make in order to maximize sub-

sequent earnings, and the decision by some companies

to delay publication of the results of their work (which

might be hugely important for medical research) so that

commercial rivals can be prevented from using them

(Martinson 2000).

On the whole, however, the potentially negative conse-

quences of work in the field of the new genetics has received

limited coverage in comparison with the plethora of positive,

and, indeed, optimistic reports of potential cures and thera-

pies for medical conditions and diseases that may become

available in the future. At the same time, the voices of those

potentially most directly affected by new developments, i.e.

disabled people and their families, have been conspicuously

absent in these debates until recently (although number of

reviews of these issues from the perspective of disabled

people have been published in the literature, e.g. Finger

1984; Saxton 1984; Morris 1991; Bailey 1996; Fletcher 1997;

Shakespeare 1998; Parens & Asch 2000; Saxton 2000).

It was Marcia Rioux, then Executive Director at the Roeher

Institute in Canada, who first alerted us to the potentially

negative implications for people with learning difficulties

and their families (and disabled people in general) of some of

the developments associated with the Human Genome Pro-

ject, through her involvement in work in this area with the

International League of Societies for Mental Handicap, now

Inclusion International (e.g. ILSMH 1994; Roeher Institute

1999). Initially, like many other people, we felt that the issues

surrounding genetics were complicated, highly scientific,

and beyond the scope of our understanding and interest.

However, it soon became clear just how significant a matter

this was for people with disabilities, with its potential for

further exclusion and discrimination in many aspects of their

lives: for example, insurance, employment and even life

itself. Therefore, we decided to organize a national confer-

ence or ‘Information Exchange’ to raise awareness of these

issues amongst those involved with people with learning

difficulties and their families, with contributions from

nationally known and respected speakers within the world

of genetics, ethics and disability rights.

We were concerned not to replicate the general exclusion

of the voices of people with learning difficulties and other

disabled people in this event, which was one of the motivat-

ing forces behind the initiative in the first place, but the

question was: how could we involve people with learning

difficulties in discussions of this kind, involving concepts,

language and scientific discoveries that were on the very

margins of our own comprehension? We could find no

examples of work in this area conducted in the UK that

had directly involved people with learning difficulties, so

there were no models to follow. [The only other work known

to us at the time was some planned research involving

interviews with five adults with Down’s syndrome that

would include their views on prenatal screening. For an

account of that research, which has since been undertaken,

see Alderson (2001).]

Nevertheless, after some agonizing over the ethics of

involving people in discussion and debate that they might

find distressing (e.g. the discovery by someone with Down’s

syndrome that it was perfectly legal to terminate a pregnancy

simply on the basis that a foetus had that condition), we

decided that being deprived of such information and being

excluded from debates on a subject with so much potential

for affecting people’s lives was not a satisfactory alternative.

We would find ways of explaining the issues concerned to a

small group of people with learning difficulties in order to

give them the choice of taking part in discussions on the

subject, but with maximum attention to ways of ensuring

their well-being throughout the process, including potential

sources of support should anyone become distressed.

Preparing for the workshops

It soon became clear that such a complex set of issues and

concepts could not be covered in a 1-day event; two linked

day workshops for a small number of people would provide

more adequate space both to give them any information they

might not previously have had, and to help them to explore

and share their views on it. Preparations went ahead on the

basis of the following points.

Accessible information

If people were to engage in the debate about genetics and

prenatal testing, they would need relevant information pre-

sented at the workshops in accessible formats geared to their

needs.

Existing knowledge about sex and reproduction

To help people understand the basic meaning of ‘genetics’,

and learn about prenatal testing and the choices available to

Difference and choice 51

# 2002 BILD Publications, British Journal of Learning Disabilities, 30, 50–55

people in pregnancy, some prior understanding and aware-

ness of sex and reproduction would be necessary. Since

many people would not have had the opportunity to learn

even basic information in this area (Howarth 1995), only

people with existing knowledge of reproduction would be

included in these initial workshops.

Support for participants

Because the proposed workshops were taking place in

uncharted territory and the consequences of raising what

might be distressing issues with people were not yet known,

it was decided that participation in the workshops should be

restricted to people who were known to be living in suppor-

tive environments locally and who were not experiencing

any acute stresses in their personal lives (in case these might

be compounded by exploring these new issues for the first

time). Each participant was visited before the workshops to

explain the programme fully, to give them the opportunity to

decide whether or not to participate, and to find out who

would be available to support them, both on the day and

afterwards, if necessary. The visits also gave the trainers a

chance to explain more about the workshops to supporters

and to discuss any of their concerns.

Facilitating a positive experience

A small budget was set aside to be accessed by anyone for

whom the workshops raised difficult issues which needed

professional help beyond that which could be offered by

individual supporters. Local resources were also identified

in case anyone needed longer-term counselling or support.

Attention was paid to making the workshop days as com-

fortable and pleasurable as possible, with a warm and

welcoming venue, transport and the kind of meals and

breaks that people had said beforehand that they would

like. At the same time, supporters were given written gui-

dance about their role (i.e. to offer practical and emotional

support rather than to participate themselves) and alerted to

the fact that they might need to think about the people with

whom they in turn could discuss their feelings about the

issues raised by the workshop days.

‘Difference and Choice’ workshop: day 1

The focus of the two, 1-day workshops was the use of genetic

information to inform choices around pregnancy. Both work-

shops were entirely facilitated by Joyce Howarth and Jackie

Rodgers. The former is an experienced trainer with people in

learning difficulties, including substantial work around

sexuality and reproduction, and the latter is a former nurse

who is now a social science researcher at the Norah Fry

Research Centre, Bristol, UK, with a particular interest and

expertise in health issues and accessible information for

people with learning difficulties. The facilitators devoted

considerable time beforehand to working out how best to

explain concepts like ‘genes’, ‘prenatal testing’ and ‘abortion’

in ways which might be accessible to people with learning

difficulties, with support and advice from Marcia Rioux, a

key contributor to early publications on these issues (ILSMH

1994).

In the event, seven people with learning difficulties were

involved in the workshops: five women and two men with a

range of ages, including one woman with Down’s syndrome,

one man with fragile-X syndrome, a woman with learning

difficulties and a hearing impairment, and one person with

learning difficulties from a Black minority ethnic group.

These individuals were recruited on an informal basis,

according to whether they met the criteria outlined above

(i.e. an existing knowledge of reproduction and access to

support if necessary) and their availability on the dates

chosen, rather than as representatives of local self-advocacy

groups, for example. Three participants chose to bring sup-

porters along with them to the workshops.

To start off day 1, time was spent on ‘getting to know each

other’ exercises and introductions, which introduced every-

body present and made them aware that one participant used

British Sign Language and an interpreter. The first exercise

focused on people’s expectations for the day, for example:

‘We have rights to have a baby.’

‘We do not want people to choose for us.’

‘Thinking about my feelings.’

The work on expectations was done in three small sub-

groups, but the whole group drew together the list of ground

rules for the event. Before lunch on the first day, people split

into three groups again to list or draw on paper (with help

from a supporter if they needed) their ideas on: what they

were good at and what they liked about themselves; what

others liked about them; and what they liked about their life.

This was followed by their thoughts on what they would like

to change about themselves. Every group included a desire

for other people’s attitudes towards them to change. Parti-

cipants were also asked to identify which changes would

make the most difference to their lives. Their responses

included:

‘Change people’s attitudes, not to be called mentally

handicapped or other names. Stop people teasing. Like

to show people what it is like to have learning difficul-

ties – educate them.’

After lunch, there was a ‘continuum’ exercise on how

people felt about having learning difficulties. Two large

signs, one with ‘feel good’ (with ticks) and the other saying

‘feel bad’ (with crosses) were placed at each end of the room.

People were invited to stand on part of the line to show how

they felt about the different statements which people had

written about their lives before the lunch break. Participants


52 L. Ward et al.

could say why they had stood where they were: it was often

because people felt ‘bad’ about how they were treated by

other people, not about themselves. Sometimes people stood

in the middle because they had mixed feelings: they felt all

right about having a learning difficulty, but not about being

called names in the street because of it. To round off the first

day, people got into groups to show all the ways people were

different from each other. The resulting lists were long and

varied, and covered all sorts of aspects of appearance, life-

style and personality. All the groups included learning

difficulties, or particular syndromes (e.g. Down’s syndrome

or fragile-X syndrome), in their list, with one participant

adding the rider:

‘We shouldn’t be any different because of learning

difficulties or Down’s syndrome – we are all human

beings.’

Then people discussed how differences came about –

culture, education, choices, money, discrimination and . . .

genes. This led on to discussions about how babies were

made, with drawings on flip-chart paper to illustrate more

about reproduction for people who were unsure about some

details. Genes were explained as the bits of information on

the sperm and egg which fit together like a jigsaw puzzle,

and help to determine what people are going to be like. The

group talked about what might be on people’s genes and

things that might ‘run in people’s families’. Back in small

groups again, they drew or listed some things that might be

‘in their genes’, for example:

‘My bones, my height, a woman, my looks, asthma, my

hair.’

People wondered whether learning difficulties was ‘on a

gene or not’ and discovered that sometimes it was – and that

this sometimes meant you could find out in advance whether

your baby was going to have a learning difficulty before it

was born.

One week later . . . workshop 2

The second workshop again started with tea and coffee, and

meeting up with participants from the week before. As a

large group, people talked about the choices which people

make in their lives; for example, what you eat, where you

live, where you go on holiday, as well as some choices people

wanted to make which they felt they were not allowed to by

family or staff. It was clear that some people had more

choices than others. Breaking up into small groups, people

drew a house, and then were asked to draw or write around it

the things that helped them to make choices; for example,

people and information. This was fed back to the large group,

provoking both anger and resignation from people who were

frustrated at the lack of choices in their lives or who felt

unsupported.

After a break (the previous session had evoked some strong

feelings for lots of people), the workshop moved on to talk

about choices in pregnancy, i.e. whether a woman might

decide not to have a baby but to have an abortion instead.

This was a new idea to some participants and needed to be

gone over in some detail, with participants discussing in

small groups why people might make a decision of this kind

and the sorts of pressures which they might be under to do

so. This was a difficult exercise for some, particularly those

who were trying to come to terms both with the new concept

and with understanding why people might not want a baby

with Down’s syndrome, for example. Explanations about the

law on abortion were followed by information on the kinds of

tests women can have to show if a baby is going to have

Down’s syndrome or some other conditions like achondro-

plasia (not growing tall). People talked a lot about what it

meant to be ‘severely handicapped’ (the term used in the law),

and whether that made it all right to be able to have an abor-

tion when you might not be able to in other circumstances.

After lunch, the group did another continuum exercise,

this time in relation to prenatal testing and abortion. There

was a lot more spread of opinion on these issues:

‘Tests are good because they give people information.

Information means that people can seek help from

their GPs.’

‘The foetus should be aborted if a test shows it has a

learning difficulty because I don’t think it should be born

into a cruel world.’

‘Disabled babies are OK.’

People were asked to think about what would be useful for

parents who had been told that their foetus was going to be

disabled, and were trying to decide whether to have an

abortion or not:

‘A video of what people with learning difficulties can do.’

Participants were adamant that people with learning dif-

ficulties should be involved in any future debate about the

use of genetic information to inform choices in pregnancy.

Finally, the group started to think about the presentation

that they wanted to make to the national Information

Exchange that was happening shortly. Four of the partici-

pants decided that they would like to contribute and agreed

which areas should be covered and by whom (the actual

contributions were written by them later). The four areas

were:

� Our achievements:

‘I have a learning difficulty, but I learnt to drive.’

‘We can achieve a lot if we are given the chance.’

� Differences:

‘Everyone is different, but people shouldn’t be teased

just because they are different. Some differences we



talked about are eye colour, hair styles and colour, good

taste, skin colour, music tastes.’

� The importance of choice:

‘We feel we should be allowed to make our own choices.

We want to choose things like where we live, what work

we do, if we want to go to college.’

� Disabled babies:

‘There should be tests for women who are pregnant, to

see how the baby is. If it has Down’s syndrome, the

parents need someone to talk to. They need to find out

what people with Down’s syndrome can do. You should

think of the baby as a baby first, not just that it has

Down’s syndrome. . .’

Conclusions

The two workshops were innovative, experimental and

highly evaluated by participants. Everyone was given a copy

of the programme and three different-sized stickers: the

larger the size, the better the evaluation. Overall, the vast

majority of sessions had large stickers attached to them.

People said how important it was that they should ‘get a

chance to talk about these things’.

On the day of the Information Exchange itself, those of us

organizing the conference were unsure about how it would

go, much less how the contributors with learning difficulties

would find it. In the event, their presentation was the high

spot of a day which featured contributions by parents, lead-

ing commentators in the field of genetics, international

experts on bio-ethics and learning difficulties, key commen-

tators on ethical issues, and a powerful account by a disabled

professional. The workshops, and the participants’ contribu-

tion to the Information Exchange, demonstrated persua-

sively that people with learning difficulties were, indeed,

capable of understanding and appreciating the issues

involved in using genetic information to make choices in

pregnancy.

This is an issue which affects people with learning diffi-

culties and disabled people generally in very profound

ways. Public discourse in this area, prevailing beliefs,

legislation and professional practice all clearly reveal the

differential value attached to the lives of people with learning

difficulties and disabled people, and their non-disabled

peers. The new genetics and prenatal testing have been

generally heralded as beneficial developments in our

society, but many or even most of the disadvantages experi-

enced by disabled people in our society are not primarily a

product of their impairment, but of the poverty, negative

attitudes and discrimination which they encounter in their

daily lives. Twelve per cent of the population are disabled

(Shakespeare 2001), but only 1% of births are affected by

congenital impairment. Therefore, one might argue that a

society that is serious about reducing impairments might

do better to devote similar amounts of funding to addressing

the social and environmental factors so commonly involved

in the creation of impairments (Williams 1997) as it does to

the potential genetic components which may be involved.

Whatever else, it is clear that disabled people, including

people with learning difficulties, can and should be contri-

buting to this important debate about the kind of children

who are born, and the kind of society in which we want to

live.

Acknowledgements

Thanks to Alison Collins, Brenda Cook, Graham Hamblett,

Collette Harris, Jackie Long, Zara May, Bruce Webster and

their supporters for participating in the workshops

described.

A more detailed account of preparations for the workshop,

the workshops themselves and the contributions made to the

Information Exchange are given in Ward (2001).

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