Category: Bioethics

First they came for the trisomies….

By Razib Khan | July 18, 2013 5:52 am

At 9 weeks
Credit: Ed Uthman

A new opinion piece in The New England Journal of Medicine is titled A New Era in Noninvasive Prenatal Testing. It is free, so I commend you to read the whole thing. But this is the key section, “A new, noninvasive prenatal test is poised to change the standard of care for genetic screening. Cell-free fetal DNA (cfDNA) testing requires only a maternal blood sample, can be performed as early as 9 weeks of gestation, and outperforms standard screening tests for trisomies 21, 18, and 13 in high-risk populations.” Nine weeks is of course still in the 1st trimester.

While 60 percent of Americans support the legality of 1st trimester abortions, only 30 percent support the legality of those in the 2nd, and it is in that trimester that the abortion of a fetus with a trisomy abnormality now occurs because the various prenatal tests are at this stage. Mind you, I understand that despite what the public says a larger share of parents who receive “positive” results in that trimester abort the pregnancy than might be expected based on surveys about the legality of the practice. But, there is probably considerable room on the margin for the class of those who would opt for this if the results arrived in the 1st trimester.

And of course trisomy tests are just the beginning. Whole genome sequencing of 2nd trimester fetuses is now possible, and it seems very likely that in the next few years they’ll move all the way to the 1st trimester. At that point the genetic analysis of 1st trimester fetuses will be routinized and be a simple consumption good. The ultimate question is what are we going to do with all that information? This is not hypothetical, speculative, or blue sky. It’s almost a reality.

CATEGORIZED UNDER: Bioethics
MORE ABOUT: Prenatal Screening

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’:

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CATEGORIZED UNDER: Bioethics, Personal Genomics
MORE ABOUT: Prenatal Screening

23andMe and the FDA clearance

By Razib Khan | July 31, 2012 1:18 am

As they say, read all about it. I’m rather ambivalent. 23andMe has a business rationale to go in this direction, so I don’t begrudge them their decision. The problem, at least from a legal perspective, is that they’re providing medical advice at least implicitly. And I think this medical direction is really where the big money is in any case. There’s no angle standing on principle.

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CATEGORIZED UNDER: Bioethics
MORE ABOUT: FDA

Is resurrecting Neandertals unethical?

By Razib Khan | July 17, 2012 9:34 am

An interview with paleoanthropologist Chris Stringer:

This raises one more question: Could we ever clone these extinct people?

Science is moving on so fast. The first bit of Neanderthal mitochondrial DNA was recovered in 1997. No one then could have believed that 10 years later we might have most of the genome. And a few years after that, we’d have whole Denisovan and Neanderthal genomes available. So no one would have thought cloning was a possibility. Now, at least theoretically, if someone had enough money, and I’d say stupidity, to do it, you could cut and paste those Denisovan mutations into a modern human genome, and then implant that into an egg and then grow a Denisovan.

I think it would be completely unethical to do anything like that, but unfortunately someone with enough money, and vanity and arrogance, might attempt it one day. These creatures lived in the past in their own environments, in their own social groups. Bringing isolated individuals back, for our own curiosity or arrogant purposes, would be completely wrong.

 

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CATEGORIZED UNDER: Bioethics

I think Down Syndrome is bad

By Razib Khan | July 12, 2012 11:04 pm

An interesting comment:

“If you add copies of a gene the result is not always good because of dosage effects (Down Syndrome is an extreme case of this on the smallest chromosome).” [From my post, -Razib]

As a father of a child with Down syndrome, I would take exception to this comment. First DS, is not “bad” – my daughter is an amazing and wonderful person, and her DS is part of that wonderful person. She is one of the most amazingly positive things that has ever happened in my life. So I have a hard time reconciling that with your “extremely bad” synopsis.

Second, DS is not an at all extreme case – it is rather run of the mill. It is so minor of a variant that it is survivable and very common place (1 in 733 births). People with DS lead full, productive and meaningful lives. That is not extreme, it is mild. Extreme would be being born inside out or having no chance of surviving 72 hours.
Please don’t add to the misconceptions around Down syndrome. Most of us parents, siblings, and self-advocates find this to be both untrue and unhelpful.

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CATEGORIZED UNDER: Bioethics
MORE ABOUT: Down Syndrome

The Neandertal Olympics?

By Razib Khan | June 24, 2012 1:39 pm

In the comments:

And yes, species concepts are much more fuzzy in many cases. Were mice to hold their own Olympics, they might well have learned (if slightly furry) discussions about whether musculus/domesticus/castaneus should compete in the same events, and if so, which events molossinus or other hybrid individuals should compete in. As humans, we dodge that bullet by having no closely enough related species to confuse the issue. The difference between us and a chimp is well defined. If Neanderthals were still around, that would be a different matter.

What happens is a nation (e.g., China?) reconstructs a Neandertal individual from the sequence in the public domain as well as segments from living human beings. Do they get to compete as power-lifters? This might seem like a crazy question, but I’m not totally unconvinced that it will be just academic within our lifetime. Genetic modification is likely to become ubiquitous within a generation.

Image credit: Wikipedia

CATEGORIZED UNDER: Bioethics
MORE ABOUT: Bioethics

Sex & sport

By Razib Khan | June 23, 2012 10:26 pm

The New York Times has an article up on a new I.O.C. ruling on who can compete as a woman. Basically they look at testosterone levels. This seems a different tack than cases where women were banned from competing as women because they had a male karytoptype (AIS). This article came on my radar because I had already read this op-ed from about a week ago, You Say You’re a Woman? That Should Be Enough. This sentence jumped out at me:

Second, when it comes to sex, sports authorities should acknowledge that while science can offer evidence, it cannot dictate what evidence we should use. Scientifically, there is no clear or objective way to draw a bright line between male and female.

What do people think of this assertion? I’m aware of intersex individuals. But if we start to assert that dioecy is just a “social construct” then let’s revisit species concepts. I’m sure there are some farmers and loggers who might assert that one can’t draw objective bright lines between populations. Distinctions between male and female in most species is much more clear and distinct than various taxonomic categories.

CATEGORIZED UNDER: Bioethics
MORE ABOUT: Sex

Eugenics by another name

By Razib Khan | June 18, 2012 10:03 pm

Evolution’s winner. Real headline.


In the mid-2000s two British biologists of some public note attempted to revive or resuscitate the good name of eugenics, Richard Dawkins and Armand Leroi. My own suspicion is that this emerges in part from a implicit cultural history in the British Isles in regards to eugenics: in those nations,* unlike in the USA or Germany, eugenics was generally conceived of in the positive rather than negative sense. By this, I mean that a disproportionate amount of thought was given to the procreation of the favored, rather than coercive restriction of the unfit. This is exemplified by R. A. Fisher, the co-founder of both evolutionary genetics and statistics, who worried about the high mortality rate of the British elite during World War I. Fisher himself went on to have eight children, a situation which occasionally left him in financial distress, as would be predicted from standard Malthusian assumptions (see R.A. Fisher: The Life of a Scientist).

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CATEGORIZED UNDER: Bioethics, Personal Genomics
MORE ABOUT: Down Syndrome, Testing

Intelligent squid are our brothers & sisters too!

By Razib Khan | May 3, 2012 12:07 am

Nature has a Peopling the planet issue out that is worth reading. Lots of the features are free to the public, but Chris Stringer’s comment is not. Though there is some science in the comment, a lot of it is about normative concerns. Not what is, but what should be. Or, more precisely what should be the values we hold dear, rather than the reality of the world as it is. But this bit caught my attention: “Already I’m reading blogs that speculate about whether some groups are less ‘modern’ than others, and I fear that such discussions endanger the considerable progress promised by palaeogenetic research.” Well, I know Chris drops in on this blog now and then, so I hope he’s not talking about little old me!

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CATEGORIZED UNDER: Bioethics
MORE ABOUT: Palaeogenetics

Cloning the mentat

By Razib Khan | March 17, 2012 10:28 pm

There’s news about the Woolly Mammoth cloning attempts again. This gets floated every few years, and nothing has come of it…yet. I assume with enough money and time invested it will come to fruition. And whoever invests their time and energy and gets a successful return will probably get really famous, really quickly. But I’ve recently been thinking of a more practical application of cloning: reproducing enormous numbers of individuals who are mostly replicates of John von Neumann.*

To get a sense of why, see this Steve Hsu post. You can read about how much of a genius von Neumann (he was a source for Dr. Strangelove), but his legend is even larger in the oral history of mathematical science. There are still individuals alive who knew von Neumann personally, and they continue to maintain the memory of his preternatural mind.

My argument for cloning von Neumann in large numbers has a practical rationale: the world needs genius to maintain complex human civilization. John von Neumann certainly qualifies as a genius. And we need more than one, as it is likely that there is a random element to the expression of his particular brilliance.

* von Neumann is buried in Princeton, so partially degraded DNA would have to be extracted from his grave. One can also utilize DNA from his daughter, who is still alive.

CATEGORIZED UNDER: Bioethics

PGD:2010s::IVF:1980s

By Razib Khan | January 7, 2012 10:59 pm

Get ready for PGD, the acronym for preimplantation genetic diagnosis. We don’t really talk about “test tube babies” anymore. It’s “IVF,” and as American as apple pie (OK, perhaps as Israeli as falafel). Here’s the Ngrams result:

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Euthanasia, not eugenics

By Razib Khan | January 2, 2012 11:08 pm

A comment below clarified my thinking in one particular area: is widespread genetic screening going to result in a reconsidering of the idea of ‘engineering’ society? I realize now that in a comparative scenario this is ridiculous. The majority of healthcare expenditure is near the end of life, not the beginning. In 17 years the last of the Baby Boomers will turn 65. The looming costs are rather straightforward. And it’s not just an issue in the United States, the whole worlds is going gray.

 

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CATEGORIZED UNDER: Bioethics
MORE ABOUT: Eugenics, Euthanasia

How a "designer baby" might just work

By Razib Khan | December 29, 2011 1:41 pm

In earlier discussions I’ve been skeptical of the idea of “designer babies” for many traits which we may find of interest in terms of selection. For example, intelligence and height. Why? Because variation on these traits seems highly polygenic and widely distributed across the genome. Unlike cystic fibrosis (Mendelian recessive) or blue eye color (quasi-Mendelian recessive) you can’t just focus on one genomic region and then make a prediction about phenotype with a high degree of certainty. Rather, you need to know thousands and thousands of genetic variants, and we just don’t know them.

But I just realized one way that genomics might make it a little easier even without this specific information.

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CATEGORIZED UNDER: Bioethics, Quantitative Genetics

Noninvasive tests for Down Syndrome

By Razib Khan | December 29, 2011 10:54 am

I’ve mentioned this before, but I thought I’d pass on the latest report on MaterniT21, the prenatal noninvasive Down Syndrome test. Currently it has a $235 copay for women with insurance. As of now only a few percent of the ~5 million pregnancies in the USA are subject to amnio or c.v.s. This procedure may result in the screened proportion going from ~1 percent to ~50 or more percent (though the firm that is providing this can only process ~100,000 tests per year as of now). I stumbled upon this after doing a follow up on my post, Would you have your fetus genetically tested? Interestingly the proportions who would get tested doesn’t differ that much between demographics.

And the outcomes can sometimes surprise. A story in the Columbus Dispatch relates the story of a couple who kept their daughter, who tested positive for Down Syndrome. They had originally decided that if the tests came back positive the would terminate. In contrast, the nurses relate that one strongly anti-abortion couple at the beginning of the process seems to have terminated. Right now 1 in 700 pregnancies result in Down Syndrome.

CATEGORIZED UNDER: Bioethics
MORE ABOUT: Down Syndrome

The F.D.A. has better things to do than persecute Trent Arsenault

By Razib Khan | December 21, 2011 12:55 pm

For several days I’ve gotten referrals from message board discussions about the case of Trent Arsenault. Trent is a “free sperm donor” (see the link for the details). For various financial reasons he can’t adhere to all the regulations which sperm banks are subject to. I don’t dismiss the concerns out of hand, but I object to the idea that this sort of project is a rational and useful allocation of regulatory time and money. I find one section of a Reuter’s piece illuminating:

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CATEGORIZED UNDER: Bioethics
MORE ABOUT: Sperm donor

On the real possibility of human differences

By Razib Khan | November 26, 2011 1:16 pm

I have discussed the reality that many areas of psychology are susceptible enough to false positives that the ideological preferences of the researchers come to the fore. CBC Radio contacted me after that post, and I asked them to consider that in 1960 psychologists discussed the behavior of homosexuality as if it was a pathology. Is homosexuality no longer a pathology, or have we as a society changed our definitions? In any given discipline when confronted with the specter of false positives which happen to meet statistical significance there is the natural tendency to align the outcome so that it is socially and professionally optimized. That is, the results support your own ideological preferences, and, they reinforce your own career aspirations. Publishing preferred positive results furthers both these ends, even if at the end of the day many researchers may understand on a deep level the likelihood that a specific set of published results are not robust.

This issue is not endemic to social sciences alone. I have already admitted this issue in medical sciences, where there is a lot of money at stake. But it crops up in more theoretical biology as well. In the early 20th century Charles Davenport’s research which suggested the inferiority of hybrids between human races was in keeping with the ideological preferences of the era. In our age Armand Leroi extols the beauty of hybrids, who have masked their genetic load through heterozygosity (a nations like Britain which once had a public norm against ‘mongrelization’ now promote racial intermarriage in the dominant media!). There are a priori biological rationales for both positions, hybrid breakdown and vigor (for humans from what I have heard and seen there seems to be very little evidence overall for either once you control for the deleterious consequences of inbreeding). In 1900 and in 2000 there are very different and opposing social preferences on this issue (as opposed to individual preferences). The empirical distribution of outcomes will vary in any given set of cases, so researchers are incentivized to seek the results which align well with social expectations. (here’s an example of heightened fatality due to mixing genetic backgrounds; it seems the exception rather than the rule).

Thinking about all this made me reread James F. Crow’s Unequal by nature: a geneticist’s perspective on human differences. Crow is arguably the most eminent living population geneticist (see my interview from 2006). Born in 1916, he has seen much come and go. For those of us who wonder how anyone could accept ideas which seem shocking or unbelievable today, I suspect Crow could give an answer. He was there. In any case, on an editorial note I think the essay should have been titled “Different by nature.” Inequality tends to connote a rank order of superiority or inferiority, though in the context of the essay the title is obviously accurate. Here is the most important section:

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A beast with human skin?

By Razib Khan | July 21, 2011 10:18 pm

I don’t give much thought to chimeras, so this editorial in Nature took me unawares (OA): The legacy of Doctor Moreau:

Innumerable mice and other animals have been engineered in past decades to express a human gene and model specific aspects of human disease. They rarely inspire disgust, because they still resemble their own species. But further advances in genetic and stem-cell technologies mean that researchers could, in theory, create animals with quintessentially human characteristics or behaviours. The sight of an animal with shiny, furless ‘human’ skin, for example — exceptionally useful for research into skin disorders — could evoke disgust similar to that created by Moreau’s beast folk, even though the animal itself might be perfectly comfortable. One of the biggest horrors — although technically unlikely — could be a self-aware monkey, a creature with human thought trapped in the body of an animal, unable to express itself.

Perception, the ‘optics,’ matters. I think there are going to be serious issues if chimeras resemble humans. It’s just too good for video not to trigger outrage. More subtle hybridizations which are less phenotypically salient though….

CATEGORIZED UNDER: Bioethics
MORE ABOUT: Bioethics
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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!
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