Yes we should (prenatal sequencing)

By Razib Khan | August 13, 2012 11:22 pm

Obsession. I’ve been obsessed with many things in my life, from specific women to sundry topics. But I’ve never known obsession until I had a child. Perhaps others are not like me, but the monomaniacal need to know as much as you can about your future child as soon as possible gripped me early on. Even today I want to know as much about her as I can. This is why I had her genotyped at two months, and this is why I plan to have her whole-genome sequenced as soon as it is feasible. This doesn’t mean that I put much stock in the power of individual prediction. Rather, even if the returns are marginal even the smallest tidbit of knowledge about my child is precious to me.

This is why I’m left scratching my head when I see pieces which moot concerns about whole-genome sequencing of fetuses. Obviously some people will go for it, and some people will not. It won’t be very cheap, nor will it frankly tell you that much on a per base pair basis as a function of the cost. But it will tell you something, and depending on the coverage (ergo, how accurate the sequence is going to be at the end of the day) you keep the information you get. Imagine, for example, that it would cost $5,000 for 10X coverage. Would you go for it? I would. Why? How much does the average American car cost? $30,000 dollars. A car is very useful, but it’s a depreciating asset. A genome will never depreciate, it won’t degrade. In fact, as more research gets done its utility will only increase! If people are willing to pay >$5,000 for a high end gaming box, and not be perceived as crazy, why should genophiles be seen to be wild-eyed weirdos?

Of course the natural objection is that I’m discussing a problem which doesn’t exist. I wish this were so, but there’s a whole bioethics industry whose bread & butter is to trade in flimsy and specious reasoning, which might appeal to politicians who are will to purchase specious reasoning for purposes of their demagoguery. For example, As Prices for Prenatal Genome Sequencing Tests Fall, Researchers Worry About Consequences for Families in a Real-Life ‘Gattaca’:

Donley and her fellow investigators cited three specific areas of concern. The quality and quantity of information in existence, and the changing definition of “normal”, may lead to an increase in the number of pregnancy terminations.

They also worry that, after the child is born, genome sequencing could have implications on raising children. For example, if parents are already aware from the time of their child’s birth of little Billy’s predicted low IQ score, it may cause them not to push him to do well in school, even if the prediction is incorrect.

Donley and her team also point out that a parent’s right to know in order to better inform their reproductive choices may conflict with children’s rights to not know.

But researchers also point out that genome sequencing would be futile for a while. For 90 percent of genes their function remains unclear, so sequencing would be unclear and of relatively little use. Researchers believe that, in the present tense, specialized genetic testing, like the kind currently in use, would hold more utility for future parents than genome testing.

The National Institute of Health fellows suggest that doctors elaborate a plan about just what kind of information may be given to parents. They also say that the child’s right to not know should not be breached, except in special circumstances. Professional societies, like the American Medical Association, should coach the public on the difference between genome tests and current genetic testing. And, of course, they say that more data is needed to coach both professional organizations and the public.

First, the main issue I always have in regards to “the children” is the context is that we as a society give broad liberties to parents to behave bizarrely and thoroughly embarrass, mortify, and “fuck up” the lives of their children. Some parents even tell their daughters that they’re “dirty sluts” and they should stay away from boys, lest they tempt them. Other subcultures expel young boys to make polygamy feasible. Of course bioethicists need something to do, and we’re not going to solve all the world’s problems by ignoring genomics. But a lot of the “concerns” just make me laugh, they’re so picayune and vague. The child might know something which might not be totally “true”! It’s all terrifying, in a verbose academic sort of way.

As for phenotypic prediction, who exactly are these parents who won’t invest in a child who may have difficulties? Sure, they exist, but I’m pretty sure they’re not the ones who will pony up for prenatal sequencing! Rather than not investing in a child a natural weakness in one domain may actually be a reason to invest more in that child! Yes, some parents do “think of the children.” Most parents who are involved and learn their child has a learning disability don’t give up on the child. They try proactively allow that child to overcome their extra barrier.

Finally, who does the AMA think they’re going to be fooling? Oh yeah, they’ll explain the difference between a whole-genome sequence and just using a SNP-chip. Most doctors don’t have the time or inclination for this sort of thing. That’s why there are genetic counselors. And since most people are not too bright some level of paternalism is perhaps warranted, but this is information we’re talking about, not cyanide. I think the threshold for paternalism when it comes to an individual’s own information, or that of their children, should be set very high. Here what they are implicitly suggesting is that a priestly class of information librarians should dole out their nuggets of wisdom when they think it is prudent. Reflect on that.

You can find original paper which the piece above was based on online, Prenatal Whole Genome Sequencing – Just Because We Can, Should We?. Frankly a lot of it is anodyne concern about public health confusions. I would say that where the authors focus on “trained professionals” I would put the onus on more sophisticated automatic analytics. There’s going to be lots of money to be made on mass-marketed genetic interpretation software, and for the truly well-off I’m sure firms such as 23andMe would be willing to provide the services of a professional statistical geneticist who would be able to do a deeper consultation.

Since the authors are so scared of how ignorant the public is one obvious solution would be to make parents take a test as to their scientific knowledge in this domain. I have more confidence in my own abilities to interpret my genetic data than any licensed professional who would be there to collect hundreds of dollars per hour to explain my results to me (I’m sure I’m not the only one a little irritated when my M.D. alludes to some genetic issue, allows me to elucidate in more detail, and then collects the fee from the insurance company for listening to me). This way you’d have a paternalistic track and a non-paternalistic track. Mind you, when it comes to information I don’t think this sort of paternalism does any good, but this may be an option that we have to fall back on.

Then there’s the concern about genetic determinism and free will. Here’s some relevant passages:

Wilfond and Kathleen Nolan call extemporaneous, where the independent market, professional practice, and legal and consumer forces determine utilization. Conversely, in the evidentiary model, new technologies are adopted after an examination of the underlying normative considerations that arise from their use

It is clear they prefer the “evidentiary” model. This does not make me happy. I am a priestless person, and I decide what my norms are. I don’t take kindly to a reemergence of medical paternalism in the 21st century, where the professionals you are paying decide what is, and isn’t, right for you, sometimes behind your veil of ignorance. Then there’s this section:

We are concerned that the technology could (1) change the norms and expectations of pregnancy in ways that complicate parental autonomy and informed decision-making, (2) exacerbate the deleterious role that genetic determinism plays in child rearing, and (3) undermine children’s future autonomy by removing the option of not knowing their genetic information without appropriate justification.

Abortion is a totally different debate, and I’m confused and irritated that they’re trying to bring this into the prenatal sequencing discussion. Of course that’s bound to rile people up, though perhaps that’s the intent. Second, we don’t have enough genetic determinism in our culture! Actually, “genetic determinism” is a word like “anti-choice” or “pro-abortion.” People who believe in the power of genes to shape outcomes are rarely determinist, rather, that’s a term of aspersion which critics make recourse to. As Steven Pinker has noted if you say that half the variation of the trait is genetic, you will be called a determinist, even if it is obvious that the other half is non-genetic (this has happened to me). I subscribe to the philosophy implied from The Nurture Assumption and Selfish Reasons to Have Kids. Micromanaging the environment of your child is unlikely to have longer term effects, so you should relax a little. As for the free will aspect, are we back to St. Augustine and Pelagius? Is this really appropriate for a discussion in bioethics? I hope this journal has a decent impact factor to justify such a strange tack.

In the end it is simple: be very careful when you suggest that the free choice of parents should be curtailed for the ‘greater good.’ There are cases where this does need to occur, but you better have strong grounds to stand on, because I’m apt to be vicious if you get between me and my obsessions. This isn’t child’s play, this is my child.

Via Dr. Daniel MacArthur.

CATEGORIZED UNDER: Bioethics, Personal Genomics
MORE ABOUT: Prenatal Screening
  • Amanda S

    I think you might enjoy last week’s BBC Comedy Of The Week which is available as a podcast. It’s an episode of “Brian Gulliver’s Travels” with info at http://www.bbc.co.uk/programmes/b01lz1cj.

  • http://seqonomics.blogspot.com Art

    Hi,

    I feel very much the same than you do when it comes to the often groundless concerns that people express when it comes to prenatal genetic diagnosis.

    However, some people may find it disingenuous to say that abortion is a totally different debate. I have no doubt that widespread use of prenatal genetic diagnosis will increase the abortion rate. Right now, more than 90% of pregnancies diagnosed with trisomy are terminated, and as it becomes possible to diagnose more conditions, the same will surely happen with those too.

    So is it therefore not entirely justified to mix the abortion debate and the debate on prenatal genetic diagnosis?

  • Charles Nydorf

    What has to be refuted is the assumption that knowledge is harmful to the public.

  • http://chukwumaonyeije.com Chukwuma Onyeije, MD

    Upon reading the first lines of this piece; I didn’t think I was going to “like” the author. He introduces himself as “obsessive” and then proceeds to dismiss the entire field of bioethics with a derisive wave of the hand.

    To say that the bioethics industry’s …. “bread & butter is to trade in flimsy and specious reasoning, which might appeal to politicians who are will to purchase specious reasoning for purposes of their demagoguery” ; is quite an insulting opening… (albeit, funny in a way …touché, Sir).

    My personal view is that the ability for “early adopters” to pursue prenatal genomic information is VERY different than when such testing becomes the standard or even widely adopted.

    The early adopter has prepared him or herself for the potential unintended consequences that would cause the bioethicist to wring his or her hands. Also, the early adopter is willing to put their money where their mouth is with regard to testing.

    Not so with the (now hypothetical) next wave of parents obtaining prenatal genomic testing as part of (soon to be) routine prenatal care. This second set of parents may not be prepared or willing to accept the genomic information obtained from their fetus particularly if the information is bad news or (even worse) if the information is simply ambiguous.

    For this next wave of prenatal genomically informed parents we (health care consumers and the public in general) also must consider the COST of such a service, the cost of the additional testing that it would provoke (in many cases leading to a dead ends or a false alarms) and most importantly; who is going to pay for all of this stuff.

    The well informed (ahem) obsessive consumer who is paying for genomic testing out of pocket with a baseline level of interest, curiousity and funding is very different from the average prenatal patient who will (eventually) be “offered” this type of testing as an “option” during routine prenatal care.

    The bioethical concerns remain.

  • Pit

    I just wonder about the child who will grow up and know that he/she has got this mutation, possibly inducing that kind of disease… Your arguments are correct, but I am not sure everybody is aware of this ‘deterministic’ problem. And here we go to the parental power debate, which is endless.

  • http://sjespositoweblog.blogspot.com S.J. Esposito

    Re: $5,000 genome with 10x covering: I’d pay in a heart beat. Forget the new car comparision (although it’s a good one), I payed nearly as much for my old Jeep last year.

    I was talking about the future of genomics with a total layperson the other day and her main question was “…and what good is all that testing? What does it tell us?” Unfortunately, as I was trying to explain the utility, I realized that the reasons I was giving are probably not important to anyone but genophiles, and especially not to the layperson who is a generally non-curious creature. I think the sad answer to my interlocutor’s question is that it will depend on how much the medical establishment accepts wide-scale sequencing and how they choose to implement it. The answer isn’t really up to us, I fear.

    I often wonder how the genome-era will affect medical students, because it’s my understanding that most MDs are not trained to know much about genomics in a general sense at all, but rather the hereditary patterns of specific diseases. I wonder, will genomics become a part of any decent medical curriculum in the coming years, or will genetic counselors just experience a boom?

  • Karl Zimmerman

    While I once again find myself in broad concurrence Razib, you must realize that in opposing the mush-talkers, you are taking the progressive viewpoint.

    Never mind that the mush-talkers are typically thought of as “progressives” in some sense. They are making a very conservative argument.

    1.We should fear change because it will open up a Pandora’s Box of repercussions, and society will be changed.
    2. Virtually any change away from the status quo will likely be a change for the worse – or at least that the positives far outweigh the potential negatives.
    3. They would deny free agency to individuals in favor of maintaining social norms.

    I look at this argument, and I see Edmund Burke all over it. And that’s being generous.

  • Dave

    I think rather than to satisfy your own curiosity, you should wait until the child is old enough to make an informed decision. I have 2 young children and feel that, unless medically necessary, having their genomes sequenced (or genotyped) is a bit like reading their diaries (although, neither is yet old enough to write, let alone know what a diary is). Even though they are young, I feel there are some decisions best made on their own. It’s the same reason why I would not have a child’s ears pierced or have them baptized (or which ever religious tradition you prefer).

    Please note, that I am not speaking against the technology, the dissemination of knowledge, or genomics in general. Indeed, I am a huge proponent of the use of NGS technologies in medicine and think that we’ll see incredible advancements in medicine in the next 5-10 years specifically because of NGS technologies. I just see this particular application as premature.

  • https://plus.google.com/109962494182694679780/posts Razib Khan

    #8, there is a big difference between a physical change (piercing, circumcision) and a mental one in my book. not to get all ‘futuristic’ i am willing to bet in the next few decades we’ll be able to choose memory wipes too. if you are concerned enough i invite you to offer to purchase some for my traumatized children ;-) but, seeing as there is heritability in personality i doubt they’d be keen on the purchase.

    in any case, do what you want to do. spare me the lectures on what i should do. at least until the parents who punch their kids in the face and diddle them at night are looked into. bigger fish to fry….

    The early adopter has prepared him or herself for the potential unintended consequences that would cause the bioethicist to wring his or her hands.

    there are many unintended consequences of in vitro fertilization and delayed motherhood. the reason bioethicists don’t spend their time writing about this is that it’s become banal. therefore, i submit the issue isn’t unintended consequences, but novelty.

  • https://plus.google.com/109962494182694679780/posts Razib Khan

    re: abortion. if abortion is a big issue in this matter they should talk A LOT about abortion then. abortion is a big deal.

  • ETK

    #8, The argument can be turned over, where NOT doing prenatal sequencing is considered irresponsible. It can be likened to not regularly checking up on the health of your child.

    Let’s say they make a discovery of a genetic deficiency that would half a person’s life expecancy, and the deficiency can be repaired if it is treated early enough in life. An overly simplified case to be sure, but genetic discoveries that once diagnosed can be used to greatly improve the life quality of a person are bound to surface at a vastly increased pace in the near future. To me, sequencing your child is caring.

    After my children are old enough to make an informed decision, I believe I will pass their sequencing information to them and let them do with them what they please. Until that point, I feel it would be my responsibility to look after them, genetically and otherwise.

    EDIT: To add some FYI in case someone is not aware, the effects of events in early stages of the lifespan of an organism are HUGE. The more we learn about genetics and biology, the more clear the importance of tackling problems early on becomes. You definitely do not delay any treatments to your child until later on.

  • Dave

    I didn’t mean to imply that it was inherently bad or that it would “traumatize” your children or that you should not be allowed to do so. IMO, this is a choice to be made by the child when they able to consent.

    This does bring up an issue that, as a parent, has troubled me for some time. How far should a parent go to improve the life of or opportunities for their children? I know someone with a son who is short (not a little person, just short). Because the child is outside the bell curve for height the doctors recommended injections of human growth hormone. Granted, the son may appreciate it one day when he’s much older (and possibly taller), but it seems like a bit of an overreach by the parents. I’m not implying that having your child’s genome sequenced will have a physical impact, but it makes me question how far I would be willing to go as a parent. I have no doubts that we will eventually see drugs (marketed to parents) that promise to enhance your child. We see it now with several shady DTC genetic testing companies promising to tell you if your child will be an athlete or violin superstar. And to get even more futuristic, what about things like memory wipes or bionic implants. If ever child in your child’s classroom is taking performance enhancing drugs or is getting bionic implants, are you putting your child at a disadvantage for not doing the same?

  • https://plus.google.com/109962494182694679780/posts Razib Khan

    #12, yep. it’s the future. bioethicists seem to only tackle the tentative present perpetually. the reality is that we don’t need bioethicists. we need ethicists, moralists, etc. we need to establish the values that we as a society hold. from that the rest will follow….

  • https://plus.google.com/109962494182694679780/posts Razib Khan

    #11, some medical geneticists believe that ‘unexpected’ child death from infection, etc., have to do with undiagnosed homozygous deficiencies. many of these children may become adults and never die. that may be one thing where high coverage whole-genome sequencing may be very efficacious.

  • ETK

    #12, I agree with you in that there are bound to be negative things that arise from this. Some day we will discover how to stop ageing and that will in all likelihood cause massive unrest.

    Let’s just hope that good ethics win the battle in the long run.

    #14, and that is probably just one example in many

  • Fisher

    I can’t help but to think a very similar debate occurred as ultra-sounds were developed. The abortion critics claiming that if you knew your child had a deformity or other visible problems that an abortion would be sought after. Yet today, this is a common practice often paid for by insurance companies. I can not believe insurance companies would not sign on to this as they would likely know the likely health of their soon-to-be customers, and that kind of knowledge can be very valuable.

  • Thomas

    Rather simple minded, even disingenuous, examples and hypothetical scenarios if you ask me. A parent who is willing to “pony up for prenatal sequencing” obviously does have specific concerns in mind and is far more likely simply to have that child killed than to agnonize over the decision of whether or not to “encourage” them in school. Of course plenty of good people will always be pleased to welcome a child of even marked disability, eg Down Syndrome, into their lives and ironically the small fraction that do will actually be used as marketing by the proponents and purveyors of eugenics to make its practice more palatable to the majority by evoking the euphemism of “choice.” If you aren’t afraid of the effect that eugenics will have on society you should be. And if you think it is unlikely to come to pass, consider that one of the current prenatal diagnostics company is named “Verinata” which means “born true,” the exact Latin equivalent of the Greek roots of “eugenic.”

    [note: i blocked this person from posting further. they’re pissed and are trying to evade them. why did i block them? too much “asshole.” keep that in mind when the asshole urge comes over you because “it’s the internet.”]

  • https://plus.google.com/109962494182694679780/posts Razib Khan

    A parent who is willing to “pony up for prenatal sequencing” obviously does have specific concerns in mind and is far more likely simply to have that child killed than to agnonize over the decision of whether or not to “encourage” them in school.

    WOW! incredible. you should go into the mind-reading industry, you have such an awesome comprehension of human motivations. now i have to admit that i had a pillow at-the-ready to smother my daughter as i was perusing her genotyping results.

  • Prof.Pedant

    “may conflict with children’s rights to not know”?

    How can anyone have a right to not now something? I can understand having a right to tell someone to shut their bleeping mouth, that I don’t want to hear what they are saying….but if the hypothetical person I told to shut up keeps on talking the issue is my annoyance and not some violation of my imaginary right not to know something.

  • Dallas

    @Razib (from comment #13):

    “the reality is that we don’t need bioethicists. we need ethicists, moralists, etc. we need to establish the values that we as a society hold. from that the rest will follow….”

    In total agreement. I took a number of ethics classes as an undergrad, one of which was a bioethics class. I was profoundly interested in the the other ethics classes, as they actually focused on what are values should be and why, and discussion of applications was peripheral, just to show how it might play out (because, just as you mention, once you find the values, determining what to actually do is rather straightforward).

    However, in the bioethics class, the discussions and the academic literature were all about arguing over the applications as if we had already determined what are values should be, but different bioethicists would argue using opposing ethical theories. The field in general seems to only accept four ethical principles (beneficience, nonmalficience, autonomy, and justice) rather than delving more into traditional ethical frameworks, like consequentialism, Kantianism, and virtue ethics (although those are surely used in the field here and there). Given that justice is mentioned separately from the other three, it doesn’t appear that their view of justice is broad and encompassing like Plato might envision it, thus their total scope seems rather limiting and un-unified. Almost all of the disagreements between bioethicists on varying issues seemed to stem from some valuing autonomy more than beneficience or one or more of the others, and vice versa. So, to say the least, despite my initial interest in the class, by the end of the semester I was tired of dealing with what seemed more like thoughtless politics than honest philosophy.

    (I’m almost surprised how rarely people question their normative values. Even the bioethicists would make lengthy arguments while slyly mentioning how they’re not going to go into the question of why they’re using the particular values that they are. It’s obvious that a Homo sapiens that doesn’t question their normative values, but operates on them, would have high utility, but surely just the slightest reflection on why one should care about the values one holds should be enough to floor one with humility, right? It did for me at least, from an early age. That being said, it does seem rather impossible to not operate on some values, even if one is totally uncertain of what they should be. It’s not like you can live your life without making decisions. But now I’m starting ramble on…)

  • AJ

    Before my son was born, I wanted to know everything I could about him. I wanted to be an informed parent. I wanted to be prepared. I didn’t seek out additional testing, but I wanted to know EVERYthing that any testing indicated. I had no specific concerns regarding my-child-under-construction. Certainly I wanted a healthy, essentially normal child; but, more importantly I wanted to prepare for the child I would have. If testing indicated possible/probable deviations or deficits, I wanted to have that information to plan for the best life I could give my child.

    If find the child’s right not to know argument a bit peculiar. They would not be born knowing. I expect that most parents would share the information when appropriate, much as any other information.

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This blog is about evolution, genetics, genomics and their interstices. Please beware that comments are aggressively moderated. Uncivil or churlish comments will likely get you banned immediately, so make any contribution count!

About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at http://www.razib.com

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