Widespread genetic screening risks creating 'inferior' citizens

Back in 1995, my 14-year-old self was sitting on the dusty floor of my all-girls’ school hall listening to a morning assembly. With the aim of promoting public speaking, each class had to give one annual school assembly speech on a topic of their choosing. That morning it was the turn of five 11-year-olds who had decided to tackle a topic beyond their years: abortion. At 8.50am on one nondescript Spring morning my whole life was pronounced worthless as they declared that mothers carrying foetuses with Cystic Fibrosis (CF) would understandably want a termination. As a CF sufferer myself, I laughed aloud at the suggestion.  Even as the illness has slowly ruined my lungs over the years, my life is still definitely one that is worth living.

Yet a report out this week by the Human Genetics Commission reminded me of those thoughtless 11-year-olds. Its pronouncement that they see “no specific social, ethical or legal principles" against offering nationwide preconception screening of genetic conditions seemed, at best, ill thought through.

In its report, ‘Increasing options, informing choice’, the Commission recommends that any person should be eligible for tests to show whether they are a carrier of genetic abnormalities that could result in their child being born with illnesses such as CF or Sickle Cell Anemia. Currently such tests are limited to people who already know there is a family risk of such illnesses.

The report believes that by widening out pre-screening to every potential parent in the UK people “can make informed choices about the reproductive options available to them.” Yet these choices seem to be very limited: remain childless, have an abortion, or endure lengthy, and possibly futile, IVF treatment.

It is possible to carry out an antenatal test called Chorionic villus sampling to see whether a foetus has CF, so that the family can choose to abort the pregnancy before birth.  Cystic Fibrosis is a tough illness and it cuts life expectancy by at least 50%. Yet people with CF can live a relatively normal life for long periods of time. We have active childhoods, careers of our choosing and a life lived independently. I have a great life full of amazing friends. I’ve had a brilliant education, a good career, and even now when my health is really quite bad I live with an amazing man who I’m marrying in two months’ time. Is this a life that would have been better aborted?

Moreover, it is easy to imagine a scenario where a childless couple in their fifties may look back on multiple abortions, undergone due to fear of bringing up a child with CF, and wonder if it wouldn’t have been better to have experienced parenthood with all the hardships and happiness it would have brought with it. Perhaps the knowledge that pre-screening brings may be as painful as the very grief it was aimed at avoiding.

If both parents are a carrier of the defective CF gene, IVF is the only way to be sure of not conceiving a child with CF. In a process called Pre-implantation Genetic Diagnosis (PGD) each embryo is screened to ensure it is genetically ‘normal’ before implantation in the womb: there is at best a 30% success rate. But with NHS funding currently under strain, IVF is being severely limited across the country. In the last three years, nearly one in five Primary Care Trusts (PCTs) have cut IVF funding, with nine areas refusing funding altogether. Even fewer PCTs are prepared to pay for PGD in comparison with traditional IVF procedures and privately the procedure costs £3,000 per attempt.

It would be a nightmare scenario if CF became a ‘poor’ person’s illness, only prevalent in parts of society that cannot afford private PGD sessions. What implications will this have into research for a cure, or for NHS and welfare provisions for people with such illnesses?

It is unsurprising that Dr David King, director of Human Genetics Alert, said that if the report recommendations were put into action "it will inevitably lead to young people [diagnosed as carriers] being stigmatised and becoming unmarriageable, and disabled people will feel even more threatened."

For me the recommendations of the Human Genetics Commission imply that a life with CF, or Sickle Cell, or any other serious genetic illness, is a life not worth living. Ultimately no one chooses to have CF but isn’t that different to taking active steps to avoid having a child with CF? The Commission seems ignorant of the fact that people with severe illnesses have a lot to give, both to the people who love them and the society of which they are a part.

Everyone has hardships in their life, and CF is mine, but living with it has given me strength as well as pain. Rather than encouraging people to consider children with genetic illnesses as inferior, it should be recognised that our society is in fact strengthened when it comprises a diverse range of people with their own unique way of living their life as best they can.

"Things I once thought unbelievable in my life..."

Listening to 6 Music as I start to write about a new test that may be able to accurately predict the onset of a woman's menopause and suddenly PJ Harvey's voice pulls my attention to her lyrics: "Things I once thought unbelievable in my life have all taken place...."

But rather than it make me think about the benefits of this new medical innovation, it turned my thoughts to the limitations of it.

Iranian doctors believe that by measuring levels of a hormone called Anti-Mullerian Hormone (AMH), they can accurately predict within 4 months when a woman may go through menopause, offering women better control over their fertility and giving them a more informed choice of when to start a family.

As menopause alone is not the only factor limiting a woman's fertility (according to one expert, fertility begins to drop from the age of 28, and by 30 one in three embryos will be genetically flawed), I really can't see the benefits of this test. If anything it just provides a false sense of security, when in fact life is anything but predictable.

When I was growing up in the eighties, there was a lot of talk about finding a genetic cure for CF. Well its now 2010 and there still isn't one. In fact, there isn't a single cure for any genetic illness to date. Thankfully even in my early teens I never pinned my hopes on a cure. I just knew I had to live the life I had available to me in the best way I knew how. This was nevertheless more problematic than it might seem. The life expectancy of CF has never been something to be happy about, but even knowing it is limited doesn't actually mean much as some CF patients die very young while some make it to a pretty decent age and even have children. The variability is massive.

So you end up trying to straddle two life philosophies simultaneously - living life for the moment as well as planning for an unpredictable future. So do you jack in the job you hate to go travelling since life is too short to waste on being miserable? Or stick it out in the hope that it leads to a better job in a year's time which would provide more long-lasting happiness than a two-month jaunt around Thailand? I don't know the answers, just that you always somehow find a solution to the new challenges life throws at you.

So back to the issue of fertility. It's a precious thing, and it becomes even more precious as you get older. Innumerous medical tests can't actually come close to predicting the unexpected nature of life. Meeting the right person, getting pregnant from a one-night stand, losing a stable income, getting a great new job, losing a parent and a future loving grandparent, getting cancer, IVF that works, IVF that fails. All this stuff of life is just as important as how many eggs you have left. Perhaps having a baby should be more about what you'd need to sacrifice at any given moment to have a child and whether that sacrifice is worth it for you in comparison to a potential future without children. (And, as an aside, surely society would be better off investing in flexible working patterns and innovative child care solutions to reduce the sacrifice a woman must make when it comes to employment prospects, rather than focus on ever-new ways to extend a woman's fertility beyond its natural peak?).

Even as someone so dependent on medicine to stay alive, for me science alone has never been able to deal with the real difficulties of living. And it brings me back to PJ Harvey's lyric: information and imagination alone won't let you create a future. The real life-affirming question is: "What do you choose?"