Embryo ethics - what about me?

Alex Snedden, with help from his father, Gary, is on his way to getting his driving licence. Picture / Paul Estcourt

Alex Snedden is learning to drive. Nothing extraordinary in that, except that the 17-year-old has Down syndrome. His mother, Bridget, is very proud.

"When Alex was born, people didn't tell us a lot," she says. "We didn't know that he was going to grow up and be able to read and write, go to the local school, be able to learn to drive, present at conferences, and that he would become an independent and competent young man."

But when he was born, most people took a different approach. They were sad about the birth, offering sympathy and negative images of life with Down syndrome.
"It was like a funeral," says Bridget. "But it didn't take long for us to realise, 'God, we really love this little guy and we'd walk on hot coals for him'."

She and husband Gary found they wanted the same for Alex as they wanted for their other children - "to give him every opportunity there was available, to give him the opportunity to dream".

Which is why Bridget finds the Government's guidelines on embryo selection (referred to as pre-implantation genetic diagnosis, or PGD) abhorrent. "They may be just embryos, but they are saying, 'These are the good ones ... and these are the ones that we don't want.'

"Is society really saying that? That they don't want the likes of Alex in this world?"

Bridget questions the basis for such thinking. "What is it - that they are an economic unit of little value? People with disabilities don't have anything to offer?"

The miracle of medical science under scrutiny here is an in-vitro fertilisation technique where laboratory-grown 5-day-old embryos are tested for chromosome abnormalities and gene disorders. Unaffected embryos are then transferred back to the mother's uterus.

Those in favour say the technology is a remarkable advance that gives people with genetic disorders the opportunity to have children who are free of conditions that have devastated generations.

Those against argue that embryo selection is simply a more humane means of culling undesirables from the population - as Hitler did in the Holocaust.

"Hitler killed about half a million disabled people in a trial run for the proper holocaust," says Wendi Wicks, national policy researcher for the Disabled Persons Assembly (DPA). "You know - gassed us, injected us, starved us and called us 'life unworthy of living'.

"So with that kind of background, there is extreme disquiet at the thought that we are being chosen out simply because we are different."

Paul Gibson, who is legally blind, is another who takes the implications of the embryo selection guidelines personally. "It's a terrifying thought that people out there believe my life isn't worth living, isn't worth replicating - so they would try to breed that out."

Gibson, who is policy manager for CCS, a provider of support and services to people with physical disabilities, sees giving the decision to parents about which embryos to keep as "a subtle and privatised form of eugenics".

The National Ethics Committee on Assisted Human Reproduction (NECAHR) acknowledges in its guidelines that it has heard such concerns, that embryo selection "discriminates against people with disabilities" and that it promotes the view "that the birth of people with disabilities should be prevented".

But the ethics committee then makes a fine distinction - between "disability" and "people with disabilities".

It argues that selecting against embryos with disabilities "does not necessarily imply that those with disabilities are living lives that are either less valuable or less meaningful".

Barry de Geest, who is physically disabled as a result of his mother being prescribed thalidomide during pregnancy, begs to differ. De Geest, a businessman and the chairman of the Auckland District Heath Board's disability support advisory committee, says the process of testing and stopping people being born delivers a hurtful message. "People are saying, 'You are a nuisance, you're a pain, so we don't want you here'.

"They say, 'Oh no, it's not about you, it's about stopping things happening. But where am I going to get my peers from if you keep taking them away?"

De Geest and others say an implicit aspect of the guidelines is that all disability is a tragedy of suffering which we should do everything we can to remove.

He says the hardest thing to explain to most able-bodied people is that disability is a part of life and that being disabled is okay.

Wicks agrees. "A lot of the information given stresses the shock-horror version of living a disabled life instead of showing what a full and enjoyable disabled life can be like. We know what it is like to live a disabled life and we know it can be bloody good."

Gibson sees his blindness as tied to his identity. "I think life is great. I wouldn't change it. I wouldn't want to be anybody else apart from myself.

"Society almost stops disabled people wanting them to be themselves. Society thinks they should want to be something they are not."

If a cure were available, wouldn't he want it? Gibson says the prospect of full sight would be like going to Disneyland, a place he once visited and enjoyed.

"I wouldn't mind another day at Disneyland. I'd like maybe a day to find out what it is like, but I'd want to come back home to me. I'd hate to live in Disneyland, it would drive me nuts."

De Geest has a similar perspective. "Anyone would take the cure, but what you're talking about is, 'Do I really want to end my life because I don't have arms?'

"That's what they are doing by the [embryo] testing - not allowing that person to even live. Asking me whether I want arms or not would be like asking me whether I want to win Lotto. Of course I would like arms, but I don't want to end my life."

Sacha Gildenlore, president of DPA Auckland, sees disability lumped into health as a key reason for the discrimination. "It's as if we're broken and can be fixed, or we're sick, or we're stupid.

"There's a lot of education needed in the medical fraternity about the difference between being sick and being disabled - we get sick, but it's not like we're sick all the time."

Gildenlore says the missing ingredient in decision-making about embryo selection, or in the related field of prenatal screening for conditions like Down syndrome, is informed choice.

"Most parents know very little about disability," Gildenlore says. "Most doctors and clinicians who are involved in supposedly helping parents make that choice know nothing about disability, so parents are not getting a balanced perspective. They are getting a clinical perspective that focuses on a medical perception of what that person's life might be."

Gildenlore wants parents making decisions about genetics to be able to meet adult disabled people who can provide information about what their child's life might be like.

He would also like a publicity campaign designed to change attitudes about disability. Gibson agrees that parents are making choices against a background of negativity towards disability, and that prenatal screening - "ingrained in society without a disability perspective" - is where debate should really be happening.

The complexity that occurs when parents get choices about their genes is found in the realm of Huntington's disease - a condition that usually arises between the ages 35 of 45, but which can occur much later.

The disease is fatal. It causes chorea - uncontrollable twisting, almost dance-like movements - and slowly destroys the ability to walk and talk. There may be behavioural changes and cognitive decline. It has been compared with having cancer, muscular dystrophy and Alzheimer's at the same time.

Family liaison co-ordinator Beth Gordon, of the Huntington's Disease Association (Auckland), says people contemplating embryo selection to have a family have already faced difficult decisions. Usually, both parents' genetic status will be known. An at-risk person will be given a predictive genetic test, including a DNA blood test which has been available here since 1993.

Gordon says that many people decide not to take the test and do so for a variety of reasons: fear, that there's no advantage in knowing, that knowing can lead to psychological stress and suicide, of being labelled with the stigma of the disease, and fear of the effect on family members.

The ethics of people knowing their genetic status is reflected in guidelines that prohibit parents seeking Huntington-gene testing for their children. Prenatal testing for the disease is offered only to help parents deciding about whether to have the pregnancy terminated if the fetal test results are positive.

The reasoning here is that it's more important to protect the child's right "not to know" rather than the parent's need to be informed. Choosing to test is a decision left up to at-risk adults to make for themselves.

Gordon says that within the association the range of views on the disease is as wide as its members. "Some would agree that Huntington's, in some ways, has enhanced their views on family life and that so-called perfection may not be the only consideration.

"For others the experience has been so devastating that they say they would not carry the responsibility of bringing somebody into the world with Huntington's."

Gordon says the point of view of people who have cared for people with Huntington's tends to be that if they had the gene they would never have children.

And although embryo selection makes it possible for couples to have a child who is free of the inherited gene, the child still has to face the certainty of one parent's Huntington's-related disability.

"The science, research and ethics about the Huntington gene and disease has actually made people's lives and decisions much more complex over the past 10 years," Gordon says. "While people have more available information, access to some new developments, and more options, these are not easy options to take or decisions to make."

People with Huntington's disease or other genetic or chromosome disorders who want to use embryo selection need to find about $14,000. The Government has deferred making a decision on funding about 30 couples a year until after the election.

Dr Mary Birdsall, of Fertility Associates, says that in the next few weeks the practice will have its first parents who are relying on genetic diagnosis of their pre-implanted embryos to begin in vitro cycles. She expects most interest will be from mothers who have had recurrent miscarriages or who have had multiple IVF attempts without success.

"Many people miscarry because they have implanted a chromosomally abnormal baby," Birdsall says. "The idea of going through an IVF cycle and choosing, as far as you can tell, only chromosomally normal embryos to go back into the uterus will increase the chances."

Latest technology can assess only seven of the 23 pairs of human chromosomes for abnormalities such as Down syndrome, but techniques are on the way that will enable all pairs to be tested.

Genetic disorders such as cystic fibrosis or Huntington's are detected by a different means - the amplification of an area on a chromosome where the specific gene resides.

"I think it's just parents choosing to have a healthy child," Birdsall says. "We're offering this as an option. We are certainly not saying to people, 'You have to do this'."

Birdsall says the important difference between diagnosis of preimplanted embryos and prenatal fetal testing concerns the argument over when life actually starts.

"Would you feel comfortable about terminating a pregnancy at 15 weeks [the stage at which amniocentesis can detect Down syndrome] versus choosing A or B embryo to replace [in the uterus] at 5 days old?"

Genetic associates Jenny Warrington and Dale Kerr, of the Northern Regional Genetic Service, don't like the term gatekeeper, but they have an important role in informing couples about prenatal and preimplantation genetic diagnosis so they are fully informed about choices available for genetic testing.

They provide genetic counselling, as set out in the NECAHR guidelines, to ensure couples give informed consent. "We're non-directive - we don't ever tell people what to do," Kerr says. "We give people the information to make their own decisions ... and we back them either way, supporting the couple in their choice."

The counselling is done with the support of clinical geneticists, who are specialist doctors who diagnose and inform people about genetic conditions and who can provide information about disability associations and support groups.

"Most couples we see have already been through a pregnancy or have lost a child and have been pretty devastated," says Kerr.

Warrington sees genetic testing as giving families and individuals more options to deal with medical conditions and have children, not about eradicating disability.

"It's not going to eradicate disease because PGD is only available to those who know they are at risk."

Alex Snedden's mother, Bridget, remains concerned about just how informed parents are when making their choice. In her experience of working with disability organisations for about 15 years, she says women are still badly informed about Down syndrome and that they are not getting positive images.

"How many of them are going to see a video of a Down syndrome child driving?" And many are still being given the impression that their child won't amount to much.

"Every single doctor and professional who deals with the families should be saying, 'Let's celebrate this wee baby and let's make sure you have got all the right information to move forward'."

Meanwhile, Alex is off to Nelson for a week-long Outward Bound course. Bridget expects he'll come back brimming with confidence.

But she acknowledges that at times he does express doubts about his difference. What does she say? "I say, tough, because that's the way you are made. Hold your head up high and pull your shoulders back. It's okay and we love you and lots of people think you're fantastic."