Monday, 8 June 2009

Prenatal Genetic Testing: A pandora's box?

In March while taking part in a conference run by CASE on Medical Ethics I was challenged in quite a personal way about the problems of prenatal genetic testing. I reported on the conference in a previous post (here) in which I offered a perspective on things that had challenged me, including a lunchtime conversation with Darren a young man with cerebral palsy who asked me a question that had life and death consequences. I also shared how troubled I had been by one section of Dr Megan Best's presentation outlining key ethical issues concerning the beginning of life and prenatal testing. Here's what I said at the time:
"She made the simple point at the beginning of her talk that technology has given us information about the unborn child not possible just a short time ago. One consequence of this is that we now find it easier to identify disease and abnormalities in the unborn child. This can be good, with new ways to identify problems and abnormalities prior to birth, and ways to intervene medically, increasing the chance of a successful birth and in some cases solving medical issues more easily than if they are left until after birth. Of course it also provides opportunities for parents to know things about their unborn child not previously possible. This presents parents with opportunities to terminate the life of the foetus based on judgments about identified disease and abnormalities. Hence, technology offers us new knowledge that can be used to ensure life or sadly to terminate it."

What I didn't mention at the time was that just weeks earlier our 5th grandchild had been diagnosed as having a rare genetic disorder either Beals syndrome or another rare form of disorder within the Marfan's group. Abraham Lincoln was thought to have had a disorder within the Marfan's group as he possessed many of the physical characteristics of Marfan's syndrome. People with Beals usually have long, thin, fingers and toes that cannot be straightened out because of contractures. This means they have a limited range of movement in the joints of their fingers, hips, elbows, knees, and ankles. They also have unusual external ears that appear crumpled. Beals syndrome can also affect the skeleton, muscles, tendons, ligaments, and the heart. Contractures of the elbows, knees, and hips at birth are very common. Some babies also have clubfoot, causing one or both feet to be turned in towards each other at the ankles. In most individuals, the contractures improve with time and the clubfoot often responds well to physiotherapy.

As Megan spoke I couldn't help but think, could such testing help parents identify a disorder like Beals? And if so, would some parents choose to terminate? Megan had reported that some doctors had expressed concern that fewer babies were being seen with club foot; could this reflect prenatal diagnosis? In the case of Evelyne's parents, as Christians they would never have considered doing this, and as a result had chosen not to have genetic testing. It seems that while testing is avaliable for Beals (here) and Marfan's (here), there are questions about their reliability. Of course, it is highly likely that testing that is more reliable will inevitably be available if pregnant women want it.

Last Sunday we gave thanks to God for Evelyne Adel Blencowe's precious life as she was dedicated at her parent's church in Bathurst. She was born on September 15th 2008 and has been a joy to all of us. Yes, she will face challenges in life; we still await test results to confirm the diagnosis and as a result don't have a detailed prognosis. This bright little girl whose impish personality and a determination to do everything her 3 year-old brother does, has already had more tests in her short life than I have had in my lifetime, and I'm sure there will be more. But as the Psalmist reminds us she is a blessing from God (Psalm 127:3-5).

For me, little Evelyne brings into focus the enormity of what people choose to do when they abort a child based on a medical diagnosis. There is strong evidence to suggest that the decisions that parents make to have abortions around the world (estimated at 42 million each year or 115,00 per day) are sometimes taken for reasons as basic as the impact that the child might have on the life of the family, the trauma that their condition might cause for the mother, the gender of the child and the chance that there might be an abnormality. Evidence of this can be seen on one well-known website (here). When parents are offered advice about genetic testing, they are encouraged to make choices that are:
"Right for you" and
"Right for you and your family"
Our family couldn't imagine what it would be like not to have our precious little Evelyne. Yes, there are challenges, but these are inconsequential compared to the joy and blessing she has brought to our family

In commenting in a Washington Post article (here), Leslie G. Biesecker of the federal government's National Human Genome Research Institute offered a sobering comment that we need to give careful reflection and consideration:
"[Prenatal testing] is a classic Pandora's box......Like any powerful technology, it solves some problems while at the same time creating new ones. How you use a powerful technology decides whether it's good or bad."
Related links

We published an issue of Case magazine last year that focussed on the theme Living and Dying Ethically. You can find more information (here).

New College runs an annual public lecture series. This year the lecturer will be Dr John Wyatt, author of 'Matters of life and death' (here). Dr Wyatt will present his three public lectures at New College on the 8-10 September 2009 titled 'Bioethics and the Future' (more information here)

Sermon by John Piper 'Abortion, race, gender and Christ' (here).

Excellent Washington Post article, 'Fresh Hopes and Concerns As Fetal DNA Tests Advance' (here)

Associates of CASE can download the talks from the Medical Ethics conference mentioned at the start of the post from our website (here). This includes Megan Best's presentation.


Greg T said...

Thanks for this post, Trevor. Children are indeed one of God’s greatest blessings.

I can relate somewhat to your experience. When my wife was pregnant with our second child, we had the “standard” pre-natal tests. One of these showed that there was a relatively high probability that the baby would be born with Down Syndrome. We were advised that an amniocentesis, an invasive procedure which itself occasionally causes the death of the child, was the most effective way of determining whether our baby had Down Syndrome or not. After much soul-searching, we decided to have it done. Our reasoning at the time was that it would have been extremely difficult – emotionally and otherwise – for us to have continued for several months in a state of not knowing: we simply had to know, one way or the other. Our other main reason was that if the diagnosis had been confirmed, we would have been able to spend the next several months preparing, emotionally and practically, for the extra challenges of caring for a child with Down Syndrome – to be able to “hit the ground running”, in other words. As it turned out, the amniocentesis indicated that our baby was “normal”, and in due course we were blessed with a beautiful baby boy.

In no way am I suggesting that our decision (to have the amniocentesis performed, or any pre-natal testing at all for that matter) was necessarily the right one, or that our decision-making process can be seen as a model in any sense. I should also say that my thinking on ethical and other issues has changed considerably in the nearly nine years since then. Faced with the same situation today, I really can’t say what we would decide. I should point out, however, that we never for a moment considered termination to be an option: our reasons for wanting to know in advance were to do with, on the one hand, relieving our mental anguish, and on the other, being able to put ourselves in the best possible position to welcome our baby.

I suppose my view is that, like most tools, pre-natal testing can be used well or badly: for good or ill. In today’s climate of mania for physical perfection, partly driven by the often inane doings of those whose careers depend on their looks, perhaps the danger is that the desire to have “designer” babies will sometimes override much more important ethical issues. When Jesus welcomed the little children, and rebuked those who tried to hinder them, we can be confident that he didn’t mean only the potential beauty queens, super athletes and Mensa IQs. Perhaps our challenge, as individuals and as a society, is to be similarly welcoming, as against having an expectation that children will correspond to some preconceived notion of perfection, or even “normality”.



Trevor Cairney said...

Hi Greg, thanks (as always) for your insightful and thoughtful comments. Thanks also for sharing your personal experiences which I'm sure would be helpful for readers of the blog. I praise God for Isaac and for God's sovereignty in the midst of the decisions that you made at the time. In relation to your comment about whether you would make similar decisions now in relation to testing, I'd add that one of the tough things about life (from personal experience) is that sometimes wisdom is the outcome of our mistakes, not just right choices (as in your case). But God in his grace, mercy and kindness can use even the wrong decisions we make for his purposes. Thanks a lot, Trevor