Tuesday, 22 March 2011

Genetic poetry

To widen the debate on genetics I believe we need to be creative. Genetics says things about personal identity that go beyond science. Sequence data tell stories, contain riddles and make promises– perfect fodder for artists of all sorts.

I had a go myself: I wrote a poem for chromosome 18 of the Human Genre Project.

I was making love at the time.
The slice of time when G tripped to A
Deep inside,
Just once.

The single A tottered and tipped the balance.
Go go go!
Grow grow grow!

As I slid and murmured the altered protein expressed
Itself, folding into shape, caressing its partner.
Struggling here, slipping there.
The fit was gone!
The seed was sown.
Go go go.

Over the years my pancreas peddled the cycle of life
Without brakes.
Gradually speeding up until I was overrun.

SMAD4 is a tumour suppressor gene on chromosome 18 involved in regulating the cell cycle. Mutations in this gene can cause unchecked cell growth and are present in 50% of pancreatic cancers.

Maybe an example of sci-porn?

If you want to flex your creative muscles, there is still a chance to contribute.

Monday, 14 March 2011

The power and influence of newborn genetic testing

I remember my newborn son’s heel prick test as an emotional blur. His screams added to the din of the tightly packed ward as the doctor struggled to extract sufficient blood. He must have wondered what sort of world he had been born into.

The short term discomfort was in his best interests as the heel prick test saves lives. Many metabolic diseases can be managed by diet and lifestyle changes but are fatal if left undetected. The benefits seem clear cut – disruption to a single gene cause quantifiable alterations in metabolism which can be corrected by environmental modifications.

A paper in January 2011 issue of Medical Anthropology makes it all appear a little more messy.

The study followed 60 newborns diagnosed with metabolic diseases in a Californian paediatric genetics clinic. The authors observed interactions between the families and geneticists and documented the emotional world of parents.

The main thrust of the paper is loss of the dream of a perfect baby after a positive screening result. Here I will focus on what struck me most about the findings: the power and influence of genetic knowledge on those whose lives it touches.

Many of the observed diagnoses in the study were ambiguous, combinations of mutations whose significance weren’t fully understood. The children appeared healthy but the parents were forever fearful of disease emergence and its serious consequences.

The research captured how parents responded and the indirect effect on their babies’ early childhood experiences.  The following quotes are from parents whose children were diagnosed with MCADD, a disease of fat metabolism in which sufferers cannot metabolise fat when blood sugar levels drop.
The mother of a 2-year-old boy with MCADD described her son as a ‘‘special case’’ because only one mutation was identified through DNA testing, yet his metabolite levels were high enough to warrant close clinical monitoring. Although the laboratory’s failure to detect a second mutation left unresolved questions about whether the child actually had MCADD, as opposed to being a carrier, the boy’s father refused to leave the child alone with anyone other than his wife.
Maria, the mother of a 6-month-old boy with MCADD, noted that her son seemed as normal as her two older children, yet that she worried ‘‘all the time’’: when he slept 6 hours ratherthan 3 or 4, or when she gave him vegetables—even though the dietician said this was okay. An ear infection at 4 months of age provoked grave fears about metabolic crisis, while online research made Maria concerned about the possibility that routine immunizations could lead to metabolic problems in children with MCADD. She told us that she worries constantly that she will do something wrong.
Dan, father to Molly who has MCADD suggested she was ‘‘progressing maybe at an 80 percent level compared to other kids’’ on motor development and Kim [mother] recognized that Molly was ‘‘not as verbal as maybe someone else her age.’’ But because Kim had ‘‘taken her to sign language since she was about like seven or eight months old,’’ she exceeded other children in her ability to communicate her needs. Thus, Kim concluded, ‘‘We want her to speak more. But, I mean, other than that, she seems just like an average normal kid, I mean, we think.’’
I would not argue that parental conflict should lead to questioning the value of the test itself, and the authors do not pass judgement either way. The children have a fatal disease and knowledge is lifesaving. However, it is clear that genetic data have power and reach far beyond the disease information they pertain to.

Much potential damage can be abated by a deep comprehension of the subtleties of the test results. Genetics and disease are untidy and will get more so as further layers of knowledge are acquired. The communication challenges are great - the science is tangled and forever shifting, moral sensibilities are individual and subjective, and the implications of getting it wrong cut deep.

The key is to transmit a nuanced understanding of the complexity to parents – the unknowns, the range of possible outcomes, how mutations influence the child and what is normal developmental variation, how childhoods can be overshadowed by understandable parental fear.

Future discoveries mean the lines between established illness and normal human variation will be continually redrawn. This research shows that we should consider not only false positives and negatives but also the psychological burden on the families who are told they are genetically ill.

Before we reach the stage of obligatory newborn genome sequencing we need a wider acknowledgement of the power of the data at the level of the individual family. The depth of understanding of the parents, and later of the child, could arguably have more of an influence on the life of the child than any genetic mutations.

Buchbinder, M., & Timmermans, S. (2011). Medical Technologies and the Dream of the Perfect Newborn Medical Anthropology, 30 (1), 56-80 DOI: 10.1080/01459740.2010.531065

Thursday, 3 March 2011

Children, science and the perpetual why

The school half term holidays have just finished and we did very little. To steal a line from Damon Alburn, we mostly “put our trousers on, had a cup of tea and thought about leaving the house”. When we finally ventured out we didn’t do anything very structured.

What has this got to do with science?

Kids are natural born experimenters. They excel at exploring, observing, testing and retesting. They have wild imaginations and aren’t limited by rational grown-up thinking. They discover so much if left to follow their own crazy ideas: with mud and sticks or with the contents of a recycling box.

So, wherever possible, I try to give my kids that freedom. I aim to make the house a place where they can play without fear of breaking adult stuff. I move anything I find I am nagging them to leave alone, and our grotty carpets and sofa are staying until they are old enough to understand.

Much of what we classify as naughty behaviour is simply experimentation. We encourage babies to post and poke and push the buttons on their flashy toys but we get cross if they transfer these skills to our stereo system. It’s quite a lot to expect little ones to understand the difference.

I must admit that my parenting style has evolved in part to make my own life easier. Back to back children’s activities becomes a little dull (especially as a passive observer) and I’d rather get jobs done at home whilst being available to assist with free range play. (I should also point out that this half term, my boys went to a childminder for a few hours every morning so I could do some work. I’m not sure we could have spent all day doing nothing much.)

The benefit of such a hands off approach is that kids can explore under their own steam rather than being straight jacketed by someone else’s ideas. The downside is the mess. But it can be liberating to learn to ignore the chaos for as long as possible and just clear up when it gets too much.

One day during half term my two year old said “Why?” for the first time, reminding me of his brother’s iterative questioning at the same age. “Why” is such a brilliant question – one little word and adults tell you all sorts of interesting things. I remember long conversations along the following lines:

“Mummy, why is it that fruit called an orange?”
“Because its coloured orange I suppose”
“Why is it coloured orange? (1. mummy in good mood) Well because there are things called photons that are either reflect or absorbed from the surface of the orange ...... (2. mummy having a bad day) Because it just is...”.

The problem with answering as option 1 is that the response will always be another:


And you end up struggling to talk about waves and subatomic particles, knowing that more “whys” will follow and wondering how long it will be before you finally lose your rag.

This kind of questioning reminds me of laddering – a psychotherapy tool used to uncover hidden core values. It certainly pushes all sorts of buttons when used to extreme by kids.

The best way to keep your sanity is to pretend that instead of asking “why?” the child has said “tell me more about that”. This is really what they mean, and it is a much more pleasant to respond to.

There is one question my kids ask that I do my best not to answer:

“How do I...”

I say things like “hmmm”,  “I see what your trying to do...” , “that’s a tricky one...” for a bit and encourage them to think of their own response, which is normally much more creative than my own.

Later in the week, my eldest found a ruler with multiplication tables on the back. After studying it for some time he came and told me the equations were wrong. He’s just started school and has been taught about addition and subtraction but not multiplication and division. He’d looked at the multiplication signs and thought they were for adding up.

We sat down with a piece of paper and I explained about multiplication and division and the moment the penny dropped his response was to jiggle and giggle with delight.

We often complain when children display negative emotions in their bodies (temper tantrums, sibling attacks) but it was heart warming to see a show of pleasure in such a visual way.

In order to encourage your child’s scientific side it doesn’t seem necessary to do anything special – just be around to answer their questions (not being afraid to give them technical answers) and encourage them to think of solutions themselves. Then put your feet up amongst the disorder and let them loose....all in the name of science.

Related post on this blog

Some other stuff I’ve written about parenting

The picture is a corner of my house just now - a prize for spotting the errant can of beans (how did that get there?)