My response to Dr Seidel’s post on the BMJ blog (Baby genome screening—paving the way to genetic discrimination?)

I just submitted the following comment, here:
http://blogs.bmj.com/bmj/2017/07/05/markus-g-seidel-baby-genome-screening-paving-the-way-to-genetic-discrimination/
It is still in moderation. has been accepted. Yes, it was far from flawless – I wrote most of it at the spur of the moment – but I think that what I mean is clear enough. I have done some editing in the version below.

Dear Dr Seidel, thank you for making these very important points.

I am taking the opportunity to offer a few suggestions for discussion and invite more views on these issues. Some of what I write below only emerged during the writing of this response and may not be watertight. Can you withhold initial judgement, think along with me and see it as an exercise in exploring the various angles?

But first of all, please forgive me my shortcomings; I phrase various concepts differently than you do as my background is not in medicine and I tend to shy away from jargon. Also, what I say is not limited to newborns, but that will be obvious to this audience. The principles largely remain the same, whether we are talking about a pre-embryo, a fetus or a newborn, and whether I call them person, individual or child. (Legally, this is currently much more complex, as you know.) My focus in this discussion does not extend to persons beyond the age of majority (likely not even beyond 8 or 10, in practice) and I am also keeping the concept of euthanasia out of the discussion even though it is related. Worst of all, I throw all techniques related to genetic material into one big pot because it enables me to see the bigger picture better.

I write from my own perspective of an opinionated white woman in the west, but when I say “we”, my intention is to refer to the human species. People from other cultures will undoubtedly spot biases in my western views; I would like those people to point out those biases.

You ask whether genome screening for newborns will pave the way to genetic discrimination. You also raise the question of the interpretation (and reliability) of such data and you have privacy concerns.

With regard to the latter, I think that we will slowly have to accept that the digital age comes with the loss of privacy in many ways. That does not have to be as dramatic as it sounds. Privacy is a changing concept anyway, which also has a cultural angle to it. The realization that people from different generations and from different cultures have slightly different views on what privacy is may add some perspective that can make us breathe easier. So we should probably become more relaxed about the loss of privacy as we knew it and focus more on preventing and ameliorating potential negative consequences of that loss, if any. The real issue is not the loss of privacy, but abuse of personal information.

In my opinion, what we need to do is ensure non-discrimination and make certain that genomic information will only be used to improve any individual’s (medical) care. (The data can become part of studies, anonymized or not; we also need to redefine consent, but I am going to leave that out of this discussion too.) In other words, genomic information must only be used to enable and allow human beings to flourish.

Even a word like “flourish” or “thrive” is highly ambiguous, though. I mean it in a non-materialistic manner, whereas some others do not at all. Perhaps I can break it all down into stages to show what I mean within this specific context. Perhaps I can break it down to show what I mean within this context.

You mention the Hippocratic Oath, which some define as “Do no harm”. Harm is another concept that we don’t agree on yet and that we – therefore? – haven’t been able to define well.

I think that we need to start applying the principle of non-discrimination to all new human life. I believe that we should consider every human individual is just as valuable – in a non-materialistic manner – as every other human individual.

When I toss this around, I run into a peculiar dilemma. While I must see a deaf or a blind person (as an example) as equally valuable as a hearing or sighted person, I cannot accept it when a hearing or sighted person is deliberately made (permanently) deaf or blind, for instance during a mugging or a work-related accident. This also applies with regard to so-called augmentations. I cannot take a human being against his or her wishes and carry out a nose reconstruction or even inject botox. That makes me realize that harm done to a human appears to be any interference or change that occurs against that human being’s wishes and is implemented by someone else.

For now, I have to limit this to physical changes because the area of psychological changes is too complicated. (Just think of schools; we do not take bad teachers to court for being bad teachers, but we do take bad surgeons and physicians to court for being bad doctors, also because the evidence related to the latter is often much clearer.) Physical interference that occurs against a person’s wishes can of course also result in psychological changes, but that does not actually matter for the concept of harm within this context.

The next problem I then run into is the fact that particularly an embryo, fetus or newborn has a very limited ability to express wishes, but and that also holds for young children. If I try to put myself in the shoes of a child, however, it becomes possible to define harm in spite of that limitation.

This – putting themselves in the shoes of the child, as adults – is what parents, guardians and other carers do all the time, of course. They sometimes have to make the decisions for the child and express the child’s wishes for the child, as if they were the child, using the knowledge they have as adults, knowledge that the child will have in the future but does not possess yet.

So, lLet’s step into a child’s feet, then. It is hard to imagine a sick or injured child that would want to get sicker and sicker and sicker or want to have a permanently festering wound resulting from an injury caused by a fall. So it is fair to say that anything we do toward remedying such a situation is in accordance with the child’s wishes, in essence, even in cases in which the child cannot even say “please make the pain go away”. It is what the child would want if it possessed the knowledge and abilities of an adult.

So, the first step in part of enabling a human – a child – to flourish is to attempt to prevent any deterioration of the child’s health.

We may have to start agreeing that this cannot be considered harm within this context, even if the chance of success is small, certainly in cases for which there are no alternative remedies. We may even have to decide that doing nothing constitutes harm when there is still an option of doing something.

If a child has appendicitis, a surgeon will have to cut into the child’s abdomen in order to remove the appendix to prevent deterioration of the child’s health or even death. Strictly speaking, cutting into a child’s abdomen constitutes inflicting an injury, but in this case, as it is done with the intention of preventing greater harm, namely the deterioration of the child’s health, it does not constitute harm within this context we do not see it as harm. (This may be be an example of where I display a western bias?)

(Of course, we can still take the surgeon to court if his or her work fails to meet professional standards, but that is a different type of harm. We certainly need professional standards.)

We can also take a child to the dentist and the dentist may have to inflict some discomfort in order to prevent deterioration of the child’s health.

By contrast, we should not, however, drag a child along kicking and screaming to have its ears pierced as this is not done with the aim of preventing a deterioration of health. (If a child asks to have its ears pierced, there is a clear wish on the side of the child.)

Note that the intention matters. When a procedure is carried out with the intention of wanting to prevent deterioration of health, we never have 100% certainty that the intended result will be achieved. (This may have implications for how we think about practices carried out in other cultures. Keep this at the back of your mind. Our own western views are not the only views that hold value.)

The second step vital part of enabling a human being to flourish is to do everything we can within a daily-life context to allow that person to thrive on the basis of the person’s given physical (and mental) situation.

We send children to playgrounds to let them play with other children and test their physical limits, we feed them, clothe them and provide shelter as well as love and all those other concepts that are hard to measure but easy to grasp. In essence, this is no different for children who are, say, blind or deaf or who have Down syndrome.

The BBC news site just highlighted a very nice albeit exceptional example of what I mean by flourishing within this context: http://www.bbc.co.uk/news/m…

To do everything we can to allow that child to thrive is also required for children who are born with a medical condition that requires some form of medication or extra nutritional care to prevent deterioration of health. This, I think, is where standard genomic testing of newborns can play a pivotal role. These days, parents still too often have to conclude that something is seriously genetically wrong with their child on the basis of the deterioration of the child’s health, which in some cases means that irreversible damage has already occurred to the child’s health.

So, failure to provide such testing (screening) from the point in the future at which we know how to do and use this properly and reliably could perhaps also be seen as harm as it could lead to the preventable deterioration of a child’s health and would not encourage the child to thrive.

The third step next level within this context of enabling someone to flourish – and this is where it gets even trickier – is interfering with the child’s genetic make-up.

We may feel that the child is flawed, whereas the child is actually viable and does will not suffer a deterioration of health or be at great risk of certain complications if we allow it to live. At the moment, we often prevent such a child from coming into the world. This is where, I think, we need to draw the line and have to take a step back. It is a discriminatory practice because it appears to express a value judgement.

I also think that because of limited resources, we may need to approach this in a stepped manner.

What I mean is that if we initially limit techniques like CRISPR and gene therapy to all situations in which a resulting child would have “a life not worth living”, then we might have a fairly just and affordable way to start implementing CRISPR, gene therapy and anything else that may come along. Once we’ve done that, we can slowly start to take it forward, extend it to other conditions. The costs of such techniques will come down. and if we start with rare diseases that are currently incurable, we also limit the initial costs of implementation.

The loss of privacy may actually become an advantage because openness makes it also much easier to detect abuse of information and to safeguard against discrimination.

One of the reasons why I strongly believe that we need to start implementing non-discrimination for all new human life is the following. Once humans start interfacing with technology, other so-called impairments – which are currently often either biased opinions or restrictions imposed by society – cease to be impairments, taking away much of the motivation for “correcting” these individuals.

Moreover, not only do we – the human race as well as society – need diversity, we may have future needs for abilities of which we currently don’t realize that some people possess them. Those may well be people who are currently considered “impaired” or “flawed”. Junk DNA was once considered just that, too.

As I already indicated, we need a workable definition of what constitutes a life not worth living and once we have one (I may have found one, by the way, based on the principle of humanity), we may end up concluding that these are the primary cases in which we actually have a duty to interfere with the child’s genetic make-up.

So I agree with you that we have to exercise restraint, in spite of all the enormously exciting developments we currently see around us. Discrimination is not the only concern and neither are interpretation and costs. We don’t know all the possible consequences yet of the application of any of those new developments, even if we think we do.

We have made many decisions in the past without asking questions that now are so blatantly obvious in hindsight. Did nobody foresee that insecticides might also affect bees and birds and amphibians, to name just one example of a past mistake, albeit a highly significant one that now also affects human fertility?

We have another reason to take it slow, namely the fact that laws and regulations lag behind, evolve in response to arising situations in real life, and rarely anticipate on what may happen in the future. Legal professionals, too, tend to think conservatively and in a geographically limited manner. It’s probably the UN and WHO who should start taking the lead in this area, and guide us into the future. Do they need a push? Should we apply pressure?

Because perhaps more than anything else, we need to work toward reaching a global consensus (including legislation) on such important matters, irrespective of how challenging and impossible that may seem. It was also once completely unimaginable that we’d have humans land on the moon, so if we did that, then we can accomplish so much more than we think we can.

One thought on “My response to Dr Seidel’s post on the BMJ blog (Baby genome screening—paving the way to genetic discrimination?)

  1. A Twitter troll suggested that genomic testing (also called screening) of newborns is standard nowadays. If that were the case, then Charlie Gard would have been diagnosed a lot sooner, to name just one example.

    Like

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