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A hypothetical clinical encounter (bold comments in brackets refer
to bolded points in Boxes 1 and 2): Mrs Smith presents to Dr Jones for a
script for an oral contraceptive. She is 38 years old and has recently
been diagnosed as carrying the gene for Huntington's disease. She
will develop progressive and irreversible dementia and movement
disorder between the ages of 40 and 60. Mrs Smith has an 11-year-old
daughter, Jane, and a 16-year-old son, John, who both have a 50% chance
of carrying the gene.
Mrs Smith: I wanted to talk to you about getting Jane and John
tested for Huntington's. [Parental autonomy]
Dr Jones: Why do you want them tested?
Mrs Smith: We all saw my father start getting dementia at 50. He's 56
and in a nursing home now. They're smart kids. They know they've got a
50/50 chance of getting it themselves. John has been on the net and
knows there's a test. I think he's old enough to know, and he
wants to know. I think it would be bad if he knew and Jane didn't.
[Competent children]
Dr Jones: Shouldn't we wait until they're adults and can make that
decision for themselves? Maybe as adults they'll wish they hadn't
been tested. If they're tested now, they won't have the option of not
knowing. Most adults who have a chance of carrying the Huntington's
gene have decided not to have testing. [Predictive testing fails
to respect child's later autonomy; right not to know]
Mrs Smith: We've always been open about Huntington's in our
family. Everyone's been tested except Jane and John. Huntington's is
nothing to be ashamed of. I think they should know what their life is
going to be like. That'll help them to make the best decisions about
what to do with their life, like which career to choose. That's not
relevant to Jane now, but it will be soon. Just because most people
don't want it doesn't mean it isn't good for us.
[Beneficial in non-medical sense; broad definition of
interests]
I also think, if they're not tested now, they won't have the chance to
adapt to the knowledge as they grow up. It won't affect them in the same
way as it would if they found out when they were 30 when they've got firm
commitments to their jobs and maybe partners. [Better
psychosocial adjustment]
Dr Jones: All the genetics societies around the world advise
against genetic testing in children when you can't do anything to
prevent or treat the disease, like in Huntington's. What's the
problem with waiting a few years? [Professional
guidelines]
Mrs Smith: I read that Professor Bob Williamson, a professor of
genetics, said that studies showed that if you give mice who will get
Huntington's coloured baubles and tubes to play with it delays the
onset of symptoms. He said this might be a reason to test children and
then intellectually challenge them."13
Dr Jones: I don't think giving your kids coloured baubles to play
with will do anything. No, seriously, I'm not sure that you can
extrapolate from mice to humans. But even if there are benefits, there
may be serious harms as well. It's important for kids to feel they
belong and that they aren't different and abnormal. Some children
would get depressed if they knew they were going to get Huntington's.
It might stop them from taking up a challenging career. And, in the
future, it may be much harder for them to get a job or insurance.
[Non-maleficence]
Mrs Smith: Our children already know they're different — they've
got a 50% chance of getting Huntington's. I think it's better to
resolve the uncertainty. Even if they have the gene, in one sense they
won't be different — they'll share something pretty important with
me. [Resolve uncertainty]
Dr Jones: Even if you're right, there's a lot of potential for
psychological harm. Some people who have tested positive for
Huntington's have committed suicide.
[Non-maleficence]
Mrs Smith: Our kids aren't like that. You don't know them like I do.
Anyway, I thought there was some research which showed that people who
have testing are better off psychologically than people who don't,
even if the result is positive.11 And kids seem to adjust to
these sorts of things. My cousin's daughter has kidney problems.
She'll probably get kidney failure and need dialysis eventually. No
one thought to not tell her that. [Better psychosocial
adjustment]
Dr Jones: One of my other patients has Huntington's disease. She
was pregnant and had prenatal testing because she thought she might
terminate the pregnancy if she had a child with Huntington's. The test
was positive, but she decided she wanted to keep the baby. She grew up
knowing that he had the Huntington's gene. She was always very anxious
about him, and he had a very disturbed upbringing. I think it was really
bad for both of them to know. [Non-maleficence; parental
guilt]
Mrs Smith: I think it's good to know. For some people it may be bad
because of the way they react to things. But if I'd known I was carrying
the Huntington's gene earlier, maybe I would've had children sooner,
or I wouldn't've worked so hard and spent more time with them. But
that's all past now. I want them to have what I didn't have: knowledge
about themselves. [Self-knowledge]
Dr Jones: But what about the mystery and surprise of life? Don't you
think that's important?
Mrs Smith: There'll still be mystery. Does your knowing
you'll kick it by 85 take away the mystery of life? They won't know who
they're going to marry. They won't know what their children will be
like. It's not like knowing the ending to a thriller. Huntington's is
only one part of our lives.
I want them to have the best life they can. But to do that they need to know
something about themselves.14 Life isn't always how we
want it to be, but we have to accept reality and make the most of it, not
just bury our heads in the sand and hope our problems will go away.
[Self-knowledge]
Dr Jones: I'd like you to think about how it would be for you and your
children if they knew they were going to suffer like your father did. I
don't know if I should do what you ask. I have to do what I believe is best
for your children. But I want to go away and think about it, look at some
of the research on psychosocial effects of genetic testing and
discuss it with some of my colleagues. We need to discuss it with your
children and your husband as well. Can we all meet next week to have
another talk about this? [Best interests; dialogue]
Clinical ethics involves engaging in open dialogue with patients,
and listening to their arguments and reasons. Ultimately, doctors
should not intentionally harm their patients. So they must make a
decision about whether a medical intervention is in the patient's
best interests. That decision must be based on the particularities of
the situation, including the social circumstances and the patient's
psychology, desires, values and reasons.15,16 Whatever his final
decision, Dr Jones was engaged in clinical ethics.
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Fiona H Richards, Roslyn J Tassicker, Jennifer G R Kromberg and Barbara M Singaram. Predictive genetic testing in children Med J Aust 2002; 176 (10): 507. [Letters]