There's a discussion going on this topic at the DeafAcademics list right
now, which may throw light at some of the issues you are looking for. See
also recent article in "Nature" below.
Kind rgds,
Hilde Haualand
Online at <http://www.nature.com/news/2004/041018/full/431894a.html>
Full article accessible only to subscribers to Nature.
News Feature
Nature
Published online: 20 October 2004; | doi:10.1038/431894a
GENETICS: DEAF BY DESIGN
Carina Dennis
Carina Dennis is Nature's Australasian correspondent.
Employing genetic diagnosis to avoid having a baby with a disability is
controversial enough. But a minority of deaf people would consider
testing to ensure that they had a deaf child. Carina Dennis finds out
why.
John and Karen — not their real names — are both deaf, and desperately=20
wanted a deaf baby. But genetic testing showed that this was extremely
unlikely. "They were devastated," recalls Arti Pandya, a clinical
geneticist at Virginia Commonwealth University in Richmond, who
counselled the couple. It was two years before they got over their
disappointment and started trying to conceive their first child.
The couple's attitude will shock many people. If you can hear, it's
hard to understand why anyone would want a deaf child. But John and
Karen's views are not that unusual among those who identify themselves
as 'Deaf' with a capital 'D'. The Deaf view their condition not as a
disability, but rather as the underpinning of a rich culture that
should be celebrated and preserved. And with the identification of the
most common genetic mutations linked to deafness, it is now possible,
in theory, to make an active choice to have a deaf child.
This possibility turns the debate over designer babies on its head,
providing ethicists and genetic counsellors with a dilemma. Only a tiny
minority of deaf people would wish to use genetic tests in this way.
Some argue that their reproductive choices should be respected. But is
society prepared to sanction the use of genetic diagnosis for a purpose
that many find difficult to understand — and some might even see as
immoral?
Some Deaf people despair of ever being understood by those who aren't
part of their culture. The Deaf identity is in large part a product of
a shared sense of isolation from the hearing world. "Exclusion is
central to the experience," says Gary Kerridge, regional disability
liaison officer at the University of Ballarat in Mount Helen,
Australia, who lost his hearing as a young child.
For deaf children, the majority of whom are born to hearing parents,
even family gatherings can be lonely affairs. Many of them feel
liberated by their first experience of Deaf culture. "They learn to
sign and suddenly for the first time, after years of being isolated and
struggling, they are accepted," says Kerridge. "Naturally, they quickly
develop a strong attachment to the Deaf way of life."
A world of their own
Sign language is central to the lifestyle. It uses hand shape, position
and movement, plus posture, facial expressions and other visual cues,
to form words and convey meaning. It has its own rules for grammar,
punctuation and sentence order. It is elaborate and expressive, and
lends itself readily to poetry and theatre.
For a hearing person, entering a room full of chattering signers can be
disconcerting. Methods used to attract attention, for example, seem
downright rude. "Stomping on floors, waving animatedly, flashing lights
and thumping tables are all considered OK," says Kerridge.
Knowing sign language doesn't, by itself, break down the barriers
between the hearing and the Deaf. "Even hearing people from Deaf
families and who sign well are always, to a certain degree, seen as
culturally distinct," says Kerridge. "That absolute feeling of
exclusion from the hearing world is difficult for a hearing person to
fathom."
Within Deaf culture, however, there's a level of social intimacy that
is rare among the hearing. "I will meet another Deaf person for the
first time and in five or ten minutes, it's not uncommon to know a
great deal about their family and personal life," says Carol Padden, a
linguist at the University of California, San Diego, who was born deaf,
to deaf parents. "I have to remind myself not to expect the same
invitation to become familiar when I'm with hearing colleagues."
That, in a nutshell, is why some deaf couples would prefer to have deaf
children. Communication and the pursuit of intimacy are central to
being human. If you genuinely believe that your children will have at
least as rich an emotional life if they cannot hear, and that you will
be better able to communicate with them, why not make this choice?
"I don't see anything wrong with it. I see it as being similar to how
parents determine the religion or education of their child," says Ted
Supalla, who has been deaf since birth, and studies sign languages at
the University of Rochester in upstate New York. Supalla's own children
can hear; they communicate with him by sign language and speak to his
hearing wife.
Genetic lottery
Like Supalla, most deaf people are happy to let nature take its course,
and say that they would be content to have a hearing child. But deaf
people are increasingly marrying one another, making deaf children more
likely. A report published in April theorized that the increasing
number of marriages among the deaf during the nineteenth century may
have doubled the frequency of deafness in the United States caused by
mutations in genes for proteins called connexin 26 and connexin 30,
which affect the function of the ear's sound-sensitive cochlea1.
About 1 in 1,000 infants is born profoundly deaf. About half of these
cases have a genetic cause. Mutations in many genes are involved — the
most common, accounting for about one in five deaf children, are those
affecting connexin 26.
Still, most children born to deaf couples can hear. Many of the
mutations involved are recessive, which means that a baby will be deaf
only if it inherits two copies of the same mutated gene. For John and
Karen, the laws of inheritance could not give them a deaf child — their
deafness is due to recessive mutations in different genes.
The couple's genetic counsellor is now investigating attitudes to
genetic testing among the deaf. In a pilot study conducted at Gallaudet
University in Washington DC, a college for the deaf and
hard-of-hearing, Pandya and her colleagues asked students whether they
would be interested in considering genetic test results to help them
select a partner2. More than half of the 64 respondents said they would
— but it wasn't clear from the wording of the questionnaire whether
this was because they wanted a deaf child, or a hearing one. Pandya is
planning a larger study to explore the issue further.
Using genetic tests to identify a partner with whom to try and have
deaf children is one thing; aborting a fetus if it turns out to be able
to hear is another. Evidence that a small minority of deaf people would
consider this option comes from the work of Anna Middleton, a genetic
counsellor at Addenbrooke's Hospital in Cambridge, UK.
Middleton's first survey was conducted at the Deaf Nation conference, a
gathering of the culturally Deaf held in Preston in northwest England
in 1997. Of the 87 delegates who completed the questionnaire, 14 said
they would be interested in prenatal testing for deafness. Four of
these said that they would prefer to have deaf children3.
Critics argued that Middleton's study was too small, and was based on a
group of Deaf activists4. So she polled a larger sample of the
hard-of-hearing, hearing people with deaf family members, and
profoundly deaf people — two-thirds of whom were not culturally Deaf.
Across the deaf group, about one in five said they would consider
prenatal genetic testing, mostly to prepare for the birth of a hearing
or a deaf child5.
Few of the deaf respondents said they would consider abortion, and in
most of those cases, their choice was actually for a hearing child.
None of those who said they would abort a deaf fetus was culturally
Deaf. But three deaf people said they would consider aborting a fetus
if it could hear. Two of these were culturally Deaf.
Tough choices
Middleton says that it's still unclear what people would do when faced
with the choice for real. "Attitudes do not necessarily predict
behaviour," she cautions. And even among Deaf activists, it's hard to
find someone who will be quoted as saying they would abort a hearing
fetus, because of the opprobrium they would attract. "Deaf people know
that it's a very risky thing to say in public that you would consider
genetic testing to have a deaf child," says Padden.
The wisdom of keeping quiet was reinforced by the controversy that
engulfed Sharon Duchesneau and Candace McCullough in April 2002. A Deaf
lesbian couple from Bethesda, Maryland, Duchesneau and McCullough told
the Washington Post Magazine that they had conceived a child using
sperm donated by a deaf male friend, because they wanted a deaf baby.
They didn't employ genetic testing to guarantee success, but their son,
Gauvin, was born deaf. While the initial article was sympathetic, many
of those that followed were not. The Fox News website, for instance,
ran a hostile piece, headlined "Victims from birth: engineering defects
in helpless children crosses the line".
Deaf couples wanting to be sure of having a deaf child have two
options. They could use prenatal genetic testing, and abort the fetus
if it can hear. Or they could consider in vitro fertilization (IVF)
combined with preimplantation genetic diagnosis to select deaf embryos
for transfer to the womb. In December 2002, Monash IVF, a clinic in
Melbourne, Australia, conducted preimplantation tests for a couple who
wanted to exclude the one-in-four chance that they would have a deaf
baby.
The Infertility Treatment Authority for the state of Victoria, which
sanctioned the Monash procedure, says it would not allow a couple
hoping for a deaf child to use the test. "Our policy states that the
procedure should be used to avoid a genetic abnormality," says Helen
Szoke, the authority's chief executive. Few other regulatory bodies
have yet devised explicit policies on the issue. Britain's Human
Fertilisation and Embryology Authority, for instance, which issues
licences for preimplantation genetic testing on a case-by-case basis,
has not yet had to rule on the matter. The UK Human Genetics
Commission, meanwhile, is currently preparing a report for the
government on genetics and reproductive decision-making, which may
touch upon the issue.
Prenatal genetic testing for hereditary conditions is used more widely
than preimplantation diagnosis. And in many countries, including the
United States, there are no legal restrictions on its use. Instead,
clinical geneticists and genetic counsellors would have to decide
whether to assist a deaf couple to have a deaf child by giving them a
test that could lead the parents to abort a hearing fetus.
An international survey of 2,906 geneticists in 36 nations revealed
varying views on this point. In Norway, none of those surveyed would
perform such a test, and in France, the figure was just 1%. But in the
United States, Italy, Russia, Cuba and Israel, more than a third said
they would6.
In practice, such tests are far more likely to be used by hearing
couples to avoid having a deaf baby. In July, The New York Times
highlighted the case of a couple who had taken a series of genetic
tests before conceiving to be sure that they weren't at risk of passing
on a genetic disease. When their deaf son was born, the parents were
angry that they hadn't been tested for the common mutations that can
cause deafness.
For many people born deaf, including Padden, the attitudes revealed in
the piece struck close to home. "That article sent chills down my
spine," she says. Middleton's surveys suggest that many deaf people
feel similarly. The culturally Deaf, in particular, feel threatened by
the possibility of genetic diagnosis leading to the abortion of deaf
fetuses3. Some postings on deaf online forums have equated genetic
testing with Nazi-style eugenics. Similar attitudes underpin widespread
Deaf opposition to the idea of 'curing' deaf people using cochlear
implants.
Testing times
This unease may explain why Middleton's surveys have shown that deaf
people are less likely than the hearing to consider prenatal testing
for deafness3, 5. And among those who would consider testing, opinions
vary widely. Many deaf people, for instance, are appalled by the idea
of aborting a fetus if it can hear. Opinions may depend in part on
whether the individual was born deaf or lost their hearing later on,
and whether they grew up in a deaf family.
Given these diverse viewpoints, some experts argue that it's unfair to
focus on the minority of the culturally Deaf who say they would
consider aborting a hearing fetus. "It is offensive to keep harping on
about this scenario. While many deaf parents may harbour a preference
for having deaf children, the data suggest that the majority would
never consider doing it," says Barbara Biesecker, a genetic counsellor
at the National Human Genome Research Institute in Bethesda.
But if genetic testing to screen against deafness takes off, and the
Deaf feel that their culture is threatened, it's possible that some
will want to fight back. In this case, their best option might be to
adopt the very technology they fear, and embrace genetic testing to
ensure that they have deaf children.
It's even possible that some may have already done so, without anyone
realizing. In many countries, there are no legal obstacles to stop a
woman obtaining a prenatal test for deafness, without revealing her
true motivations, and then seeking an abortion from a different
healthcare provider if the result showed that she was carrying a
hearing fetus. "If the question is whether there are any restraints to
prevent somebody from doing this, the answer is no," says Biesecker.
References
1. Nance, W. E. & Kearsey, M. J. Am. J. Hum. Genet. 74, 1081-1087
(2004). | Article | PubMed | ISI | ChemPort |
2. Taneya, P. R., Pandya, A., Foley, D. L., Nicely, L. V. & Arnos, K.
S. Am. J. Med. Genet. 130A, 17-21 (2004). | Article | PubMed |
3. Middleton, A., Hewison, J. & Mueller, R. F. Am. J. Hum. Genet. 63,
1175-1189 (1998). | Article | PubMed | ISI | ChemPort |
4. Michie, S. & Marteau, T. M. Am. J. Hum. Genet. 65, 1204-1208
(1999). | Article | PubMed | ISI | ChemPort |
5. Middleton, A., Hewison, J. & Mueller, R. J. Genet. Couns. 10,
121-131 (2001). | Article | PubMed | ChemPort |
6. Wertz, D. C., Fletcher, J. C., Nippert, I., Wolff, G. & Ayme, S.
Am.
J. Bioeth. 2, W21 (2002). | PubMed
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