Ethics and genetics. Genetics and ethics. Either way it’s not one to try and say after a glass or two. Although it may make it easier to get some sense from it all and come to a conclusion (ok, the conclusion may be ‘I need more wine’…but still).
Since our fun little genetic conundrum came into our lives, I have become increasingly aware of the enormous strides that have been made in genetics in recent years. After all, it was only in 2001 that the Human Genome Project released a working draft of the human genome. A route map of who we are. Last month we had another condition ruled out for Little J. The genetic mutation in question was only discovered in late 2011…in Little J’s own lifetime. Genetic discoveries are coming thick and fast. And undiagnosed children are playing no small part in that.
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Like many other undiagnosed families, we are part of a whole exome sequencing research project. I know, I know. That’s a pretty long and dry definition isn’t it…basically the fabulous gene genie (who is probably a researcher in a white coat, but I like the idea that they wear sparkly stuff and go ‘tad ah’ when they magic up an answer with their mystical powers) is going to look at everything with a reeeaaally good microscope. They aim to map Little J’s DNA and attempt to uncover what little quirk (nicer word than ‘mutation’, which makes me think of adolescent sewer dwelling turtles) has caused Little J’s unique presentation. Mine and my husband’s DNA will also be looked at as part of this process. There is a chance that this could uncover a change to an unexpected gene. Or it could just come up blank, only time will tell. A very, very long time if you are wondering how long this takes.
It isn’t the first research study we have been on, in fact it is the forth. We have been lucky enough to fit the criteria for research projects looking for specific obscure genes and those testing for ‘panels’ of genes which are known to cause certain symptoms. As part of this we have filled in numerous pieces of paper. The ones you skim and sign, because you know it would have to say, ‘by participating in this study you agree to bring fresh coffee and donuts to the research team every morning for the duration of your child’s involvement,’ for you to even consider not squiggling your name at the bottom. And even then, on balance, you would still sign it (sshh…don’t tell them that).
Only, the first time I did my cursory skim read of one of these agreements I found myself having a little momentary strop. My inner teenager did a ‘humft’ and I had to restrain it from a hair flick and an eye roll. Because it was desperate to shout the adolescent mantra, ‘But that’s just not fair!’
You see my eye had caught one specific clause that I now know is a subject of ethical debate in the genetics world. It is to do with ‘by-products’ of research, or ‘incidental findings’. It states that if, in the process of investigating Little J’s genes, something else is found that is ‘not relevant’ to his symptoms - be it another unrelated condition or a gene that puts him or us at greater risk of a certain disease; we will not be told. Even if it is a devastating revelation that could ricochet throughout our entire family or affect future children; there is absolutely no requirement to tell us if it is a separate condition from the one they are looking for.
At first this all seemed very odd to me. I mean, really? You go to all that hard work, you do all that research, you stumble across something and what? You just pop the lid back on that can of worms and pretend you didn’t see it? Come on gene genie. I’ll buy you an even sparklier outfit if you promise to tell us everything. I’m talking rhinestones here. Think Cher. In Vegas.
Most of all, this initially left me..well..perplexed. It seemed somewhat at odds with medical research. If the main aim is to improve outcomes for patients, then surely knowledge is power? But then I started reading. And I very quickly realised that my inner teenager was fulfilling the stereotype to the absolute max. Because it doesn’t always recognise when decisions are being made for its own good.
What really highlighted the complexities of this issue to me was a documentary about genetic testing from the United States. It featured a young lady who had received the devastating news that she carried the genetic duplication responsible for Huntington’s Disease. Huntington’s is a severe, progressive condition with symptoms commonly appearing in late thirties/early forties. She was markedly younger than this and symptom free. But knowledge of her future had a profound effect on her day to day life. And how could it not? Imagine the impact it would have on your relationship to know that one day your partner would become your carer. She was dealing with her situation admirably and with immense strength. But watching her speak opened up the question for me, ‘would I really want to know?’
It’s one thing to seek an answer to an anomaly, particularly if it could aid treatment. To try and diagnose a child. But when you start pulling apart DNA to see what’s in there, you may not like what pokes it’s head out. Let’s take a common one, dementia and a well known cause of dementia, Alzheimers. To my surprise when reading about this, there are now a number of genetic mutations that have been discovered which are thought to cause early and late onset Alzheimers. They only account for some cases, but still….what a discovery. I had no idea this had been found.
This then got me thinking. Right now, my DNA, my husband’s DNA and my sons DNA are sat in a lab being examined. If one of those mutations was found. And we were told. What would it mean for us? Practically, emotionally, even financially. I want to say it would cause me to become informed, ready and empowered by knowledge. But I’m a big fat liar. I would be terrified. As a carer with immense responsibility for another person, the fear of becoming incapable haunts me already. And whilst I may be getting a bit more zealous with the face cream these days, at thirty two years old, I am pretty young in the grand scheme of life. Yet..with one piece of information I could spend every day worrying about something that could take fifty years to manifest.
As time and technology move forward, who knows what other conditions could be linked back to genetics or what further genes could be found. Sticking with dementia as an example, when you consider that one in three people over 65 develop dementia, then imagine full exome sequencing becoming more widely available, perhaps even privately available (as it is in some countries already). Suddenly an ethical question becomes a full blown dilemma. And I can see why hard and fast rules are being put in place now.
But the water becomes far muddier when you consider genetics and preventative action. There has been widespread media coverage around some of the genes linked to breast cancer, with some genes likely to lead to an 80% increased risk of developing breast or ovarian cancer. This knowledge gives people the choice to opt for preventative surgery. An incredibly hard choice, but a choice non the less. Now if you imagine that a genetic mutation linked to a condition where preventative measures were possible was stumbled upon during full exome sequencing. Well now this ethical pond is bordering on opaque.
Would I want to know about a preventable condition like this, no matter what steps I may need to take? Absolutely. But then how do you define what falls in the category of 'preventable'? What about potential future parents who are 'carriers' of genetic conditions? You could argue that the conditions involved would be 'preventable', by not having children, or in some cases with IVF intervention (I think - that's a bit over my head on the science front to be honest). But then what conditions are deemed serious enough for people to be told about? Life limiting conditions? All genetic conditions? What message does that send about disability in our society? When does technology unwittingly become a catalyst for <whisper> eugenics? But that’s just too enormous a debate, so I’m going to dip my toe in with that sentence and then run away fast before a big fish gives it a nip.
All in all, I really don’t know where I stand on this issue. Human nature demands, craves knowledge. The thought of somebody else potentially having information about me that they won’t share just feels a bit mean. However, curiosity doesn’t always end well (ask the cat). And on this one I think, on balance, I need to push back against my instincts. If there needs to be a blanket rule, then I think my opinion can only go one way. Right now, somewhere, there is a vial of blood with my name on it, just waiting to be investigated. A key to my present, and potentially my future. But for me, personally…I think the gene genie needs to lock away any ‘incidental’ findings in a big old room (I’m thinking like the final scene of ‘Raiders of the Lost Ark’ here.....there’s a TINY chance I think labs are more exciting than they are). No matter how much I think I may 'want' to know something, I have to accept that I may not be capable of knowing it and living the life that I want to.
My inner teenager will just need to calm down, stop foot stamping and accept that 'if' something else is found, they just don’t get to know.
It’s ok. You’ll understand when you’re older.