|
|
 |
|
Information
Resource Library
Ante Natal diagnosis |
| |
|
| |
Informed
reproductive choice: a counsel of perfection?
By Anna Kessling
Introduction
What follows is the text of a paper given at a conference
organised by Pro-Choice Forum called 'Issues in Pregnancy
Counselling: What do Women Need and Want?' The conference
was held at Ruskin College, Oxford in May 1997. It's aim was
to give students, academics, service providers and others
interested in ensuring pregnancy services meet women's needs,
the opportunity for a critical discussion of the provision
of counselling as part of these services.
Anna Kessling
The first question I want to raise is whether informed reproductive
choice is actually possible other than outside pregnancy.
Informed reproductive choice is what genetic counselling aims
to provide. By giving full information the hope is that the
client can make an informed decision about what to do with
their reproductive lives. Once a woman is pregnant, she has
made the First part of that decision, which is to get pregnant
in the First place. What I would like to see is a situation
where real choices can be made before as well as during pregnancy.
What choices are there to be made in reproduction? These include
the choice of partner; informed choice of partner; and informed
choice of reproductive partner. Choice of a partner is something
we make all the time. Informed choice of a partner might be
a choice we make because of something we know about them,
like the choosing them because we find them attractive, or
because we know they are not the carrier of the gene for thalassemia
and we are a carrier, so we make the choice because we do
not have the same genetic background. We might choose to re-produce
with someone other than our partner through In Vitro Fertilisation
(IVF) if the genetic background of our emotional partner was
not compatible with our reproductive needs. We have the choice
to reproduce with our partner, with someone else, or we have
the choice not to reproduce, which is still an informed reproductive
choice.
Then we have the choice to choose from potential offspring
with our reproductive partner. This is we are generally talking
about when we are considering genetic counselling in pregnancy,
when we are pregnant with the partner of our choice, but at
risk from passing on a genetic disorder.
artificial Insemination by Donor quite often means having
offspring with an unchosen partner, so your genes are together
with somebody else's who you haven't chosen. You might then
want to choose during pregnancy from the range of offspring
that might be produced. There might be a range of potential
offspring from the partner of this reproductive choice.
A central question in informed reproductive choice, is 'what
do we then need to be informed about'? Do we want to be informed
about our genetic risk based on our family history? Quite
often this question does not present itself until the woman
is actually pregnant. She can then be told (by a family member),
because she's pregnant, that a relative had a genetic condition,
which becomes a cause for concern. She then comes to genetic
counselling and genetic services to determine her risk quite
late.
We might want to know about genetic risk based on a personal
history, or a closer family history of disease. There is also
risk based on populations or origin, such as genetic diseases
specific to African, Jewish, Turkish, Greek or Asian groups.
Finally there is a general risk of congenital malformation,
which is a bug-bear of mine. People are rarely informed that
there is a general risk of malformation of about two per cent.
This includes tiny malformations, but it is a risk that every
woman has in pregnancy. One in 50 times, there will be something
wrong with the baby.
Where a genetic malformations is diagnosed we have to supply
information to answer the question 'What is it like to have
this disease?'. Some information we can give from families
with an affected child. Some information is not suppliable,
for example in answer to the question 'Will there be a treatment
for this disease in the future?'. It is difficult to say whether
there will be a treatment for a child born today with say
Huntingdon's disease, where the disease may not affect them
until there are 40. But we do not know if there will be treatment
in the next 40 years. Will there be a treatment for Cystic
Fibrosis that can alleviate the symptoms? Again we do not
know.
We hope there may be, and people who advocate gene therapy
suggest there will be. But whether that possible treatment
will, if developed, be widely available or effective is another
matter, as is whether it will be funded. Giving full information
is hard, especially when even the professionals do not have
it.
When we know what sort of information people want and need,
is it possible to provide them with that information? Can
we give people full information? I would argue that in general
we cannot. We can give people the best information we can
manage within the time constraints we have got, which in a
genetic counselling session is rather more than the obstetrician
has in a regular booking-in clinic.
Full information is predicated on the educational background
and the set of values of the individual client. What they
already know, what they want to hear and what their preconceptions
are all come into play. We are all teeming with preconceptions,
including me. I think when my parents get ill, 'Will that
happen to me?' I know as a geneticist that it does not work
like that, but we all have intuitive responses regardless.
How much understanding is enough? How can we make sure we
give the right information and much information is enough?
Is it enough to just talk to the woman? Or should we talk
to the woman and her partner together? Should we have a counselling
session with them both and share information? Should it be
the whole family? I was recently at a Genetic Interest Group
meeting for young adults, who were militant about the young
adult being told about possible genetic problems by the professional
and not the family, which is absolutely reasonable. So does
this mean that the family should come to the First consultation
or not? Another issue here concerns the relatives of the patient.
If we send the woman home with the genetic information, and
she is going to tell her partner the results, should he then
come back and see us? What about a woman who carries a defective
gene and has a cousin who is pregnant, and may be at risk?
Should we try to contact this cousin?
In follow up services, how do we ensure we Find relatives
who may be at risk, but at the same time ensure patient confidentiality?
Take the scenario of partners 'A' and 'B', who have a child
with a recessive genetic disorder, and therefore both carry
the disorder. 'B' has a second partner 'C' of whom 'A' is
unaware, and they are expecting a baby. 'B' refuses testing,
and refuses to have details of the child of the 'A'-'B' partnership
released, so partner 'C', who might like to know whether a
child of the union with 'B' may inherit this gene, can't have
this information. We are stopped from taking this further,
so follow-up of the family can be attempted, but does not
always work. These difficulties mean we can give some information
to those at risk, but it is difficult to see how we can give
full information to everyone. We can try but I cannot see
how it is possible.
How much follow up is enough? Should we give clients an explanatory
leaflet to take home? Should we send them a letter following
the consultation, confirming what was discussed in the session?
Should we refer them to a whole bibliography for reference?
I think in general those who work in this field agree that
we should offer an indefinite follow-up helpline. It is difficult
to do this in the current financial circumstances, but I know
this is done in some areas of the country. We hope to have
someone available to deal with most queries most of the time,
but it would be better to have someone there who could ensure
follow-up is constantly available.
We also have to give people the opportunity to know that they
do not know-to give them the opportunity to have not understood
the information the First time round. There is a lot of difficulty
with admitting that you have not understood or learned something,
and this needs to be catered for.
What is special about genetic counselling as compared with
counselling as advice giving? It is about giving information,
not advice. We are concerned with providing full information
about a genetic condition to the client: what the risks are,
and what the consequences of carrying a genetic condition
are for the affected person, their family and future children.
Genetic counselling should also give information about the
availability, the specificity and the sensitivity of tests.
For some diseases, tests give definite yes or no; it takes
half a day to look for and Find the answer from a test. For
other conditions, like Duchenne muscular dystrophy, the gene
is very big, and for someone who does not already have a family
history it can be difficult to give a completely certain,
let alone a quick answer.
Who will interpret the test results? The genetic counsellor
will hopefully be seeing the family again when the test results
come through, and will explain to them what the results mean.
The aim is to be non-directive, but this is a complex issue.
Can genetic counselling be non-directive? A study of clinical
geneticists in the UK carried out a few years ago asked 'Should
genetic counselling be non-directive?'. The counsellors answered
'yes'. It then asked 'Do you try to make your service non-directive?'.
The answer was 'yes'. When asked if they succeeded in making
it so, the counsellors said 'no'. Everybody's values intrude
into counselling.
We all have opinions on whether every woman should be able
to have counselling. Should is be there as a matter of course?
It would seem ideal if you could go to a counsellor, ask questions
about your family history and possible genetic problems in
advance, rather than be informed of risk because you are pregnant
and have a history that you think might be threatening for
your child. Should every obstetric professional be trained,
so you are not presented with the argument that 'It's just
a routine test, so you will be having it won't you?' or 'You'll
be having the Down's Syndrome test, of course'. Many obstetric
professionals do approach these matters more sensitively,
but some do not.
Who should do counselling? Does it have to be a clinical geneticist,
professionally trained in the diagnosis of complex traits
in children, or could it someone who is most importantly empathic
and sensitive? It could be a clinical geneticist for rare
disorders, but for common disorders such as Cystic Fibrosis,
it could be someone who visits at-risk families, or is available
to see these families in a primary care setting. In this instance,
the counsellor would be consulted more in the way that a woman
might ask her midwife questions rather than the obstetrician,
or the health visitor rather than her doctor. Maybe it would
be useful to have a genetics nurse or a specialist genetics
associate in the community, who would know their limitations,
but could also give basic genetic counselling.
How do we avoid stigmatisation of any choice? This includes
the choice to terminate and the choice not to. Both can be
stigmatised. People can be made to feel bad because they have
terminated for genetic abnormality and because they have not.
We need to say it is fine which choice is made, but allow
choice to be informed. What is a 'normal' child? What a parent
might accept is up to them. Things may also go wrong with
the child after birth that have not been predicted before.
How do we make sure choice is real? Choice is a grey area.
Our value judgements enter the discussion as do the client's
value judgements, and the information that is given depends
on how informed the counsellor is, as well as how informed
the patient is. Some information has been published and read,
other information has not been. How rare the disorder is and
whether or not the counsellor has ever been in contact with
anyone who has the disease make a difference.
I would argue in conclusion that informed reproductive choice
is a counsel of perfection, and I am not sure we are able
achieve it yet. That does not mean that we should not struggle
to provide it. Full reproductive choice is only available
outside pregnancy. At the present time we make choices during
pregnancy, but we should be striving to make these choices
pre-conception and pre-pregnancy. For those who have a genetic
condition, and in families who have a previous child with
a condition, pregnancy comes to mean having a child free from
that condition, and if we can manage to ensure that situation
from the start of pregnancy we will be improving on what is
possible now. |
| |
|
|
|
|
