23andMe raises $50M, cuts price to $99, sets goal of 1M genotyped customers
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One theory that's been postulated is that women have affairs to increase the genetic diversity of the sperm that compete for her egg, thereby increasing the chances that her children will have good genes.
That would be better expressed like this: > One theory that's been postulated is that women have affairs.
The speculation about the reason for the affairs is just silly. Seriously. This made-up pseudo-evolutionary explanations for things that are so popular really do not add anything. Try it: ask 10 different women who have had affairs what their reason was -- they are real, live human beings, so you can ask instead of just speculating. I'm guessing that 0% of those women will say "to increase the genetic diversity of the sperm that competes for my egg".
In the same way, a person might say they had an affair for whatever reason, but really its their genes who want to be able to pass on themselves.
(Edited for clarity.)
However, I think that there are certain actions that we take that are clearly defined by our genetics, like the fact that we eat, or that we have sex. And having affairs is one of those.
I didn't mean to make myself sound like that I was saying it was. I was just suggesting something and I agree with you: it is plausible, but it is still a theory at the end of the day.
We're on the same page. :)
Which actually makes sense given your premises. A good evolutionary "strategy" would be to evolve brains that can make choices far more complex (literally, inelligently) than what can be pre-encoded by genes that change slowly and mutate randomly.
In summary, you are implying that when you have an affair, it's not a choice, but it's determined by your genes. Thus, it's not a moral issue; you have no choice. Thus, you can justify having any particular affair by claiming "genes," and you should just forgive any particular affair your wife has for the same reason. And I'm saying, no, it's a choice.
In other words, this study suggests at least to some degree we don't even choose who we have sex with. Haha.
Are you arguing that because we have brains we can 'override' what our genes would otherwise have us do?
Just because we can show that cheating has evolutionary benefits and thus people are likely prediposed to cheat in certain situations does not eliminate any moral considerations. Morality is precisely the idea of overriding any base instincts with what we "know" to be proper behavior. Claiming your genes made you do it is no more a loophole for morality now than "the devil made me do it" was before the discovery of DNA.
This isn't right at all. The idea that our behaviors are shaped in ways that increase our fitness follows necessarily from the theory of evolution. If we believe that behaviors are influenced at all by our genes, then behaviors that are detrimental get weeded out. What's left over was more fit for that environment. There is mountains of evidence that our behavior is affected by our genes.
That is not to say that all behaviors are optimal at all times. For one, our environment has changed monumentally in just the last few hundred years. Behaviors that were optimal back then may not be now. Also, there are multiple levels when considering optimal behavior. Behavior that is suboptimal for the individual can still be optimal for the gene causing that behavior. Homosexuality for example. It may be true that the homosexuality gene is optimally propagated when its in 10% of the population (look up evolutionary stable strategy).
I recently read about a study that claimed the male homosexuality gene when in a woman greatly increased her sexual attractiveness and sexual aggressiveness. When it's in a man it makes him homosexual. I'm sure its too early to take this as fact, but this scenario would lead to a non-zero optimal distribution of that gene in the population.
This is a misreading of evolution. To start with, we are not optimal. Not even locally optimal. No species is. Who is the optimal human? Is that person alive today?
Second, you haven't considered timescale. You say "get weeded out". How long does that process take? Suppose all behaviors are directly influenced by genes. A low-impact detrimental behavior - let's say a tendency to pick one's nose in public - faces essentially no evolutionary pressure, and so will persist effectively forever. Rather, it would be long enough as to make it nearly impossible to tell if that behavior is a beneficial or detrimental one.
How can you tell that the behavior you are examining increases fitness or decreases fitness but happens to be in the same genome as something else which greatly increases fitness?
Suppose that a subpopulation of humans acquires the 'hunk/babe' mutation and also acquires the nose picking mutation. The first gives an strong genetic advantage, and the second a very minor disadvantage. Over 1,000 years, this subpopulation dominates the overall human genetic makeup. Some researchers then point to the increase in nose picking in the general population and conjecture that nose picking must have conferred some genetic advantage. But this is wrong. Nose picking came along for the ride.
(For purposes of that thought experiment, assume also that the environment is unchanged during that time.)
Third, the coupling between behavior and genes can be extremely tenuous. 300 years ago you could look at European populations and conclude that they were genetically predisposed towards monarchy. Some believed that this was the natural order of things. Where's the gene for democracy? 1000 years ago you could conclude that there was a genetic predisposition towards Catholicism. What genetics caused people to chose that over, say, Zoroastrianism?
Optimal refers to having the highest probability of surviving and reproducing in the given environment. Since humans dominate the earth, we are more optimal than any other species of animal.
From a genetics standpoint, the most "optimal" human would bear as many children as possible while still maintaining the earth as a hospitable environment, and minimize all potential risk factors that could harm his or her children. So yes, there is a theoretical maximum for evolution that we haven't reached, but we will likely never reach it.
> Second, you haven't considered timescale. You say "get weeded out". How long does that process take?...How can you tell that the behavior you are examining increases fitness or decreases fitness but happens to be in the same genome as something else which greatly increases fitness...Some researchers then point to the increase in nose picking in the general population and conjecture that nose picking must have conferred some genetic advantage. But this is wrong. Nose picking came along for the ride.
Meiosis randomly splits chromosomes via crossing over, then pulls out one half of the chromosomes (23) to later pair with the 23 chromosomes from the other zygote (sperm or egg cell). After enough iterations this process can isolate genes that increase or decrease fitness.
> Third, the coupling between behavior and genes can be extremely tenuous. 300 years ago you could look at European populations and conclude that they were genetically predisposed towards monarchy. Some believed that this was the natural order of things. Where's the gene for democracy? 1000 years ago you could conclude that there was a genetic predisposition towards Catholicism. What genetics caused people to chose that over, say, Zoroastrianism?
Culture certainly affects behavior, yet humans have sex and produce kids in every culture. When it comes to survival and reproduction, genetics preempts culture when it comes to individual behavior. Democracy isn't an individual behavior, it's a cultural idea. People typically live under whatever government they're born into. Same with religion.
It seems logical that women could be genetically predisposed to desire multiple partners in order to increase the variety of genes and thus enhance the fitness value of their offspring. However, I do not know how you could prove or disprove this idea.
LOL! You are amazingly self-centered. Yes, humans are the most numerous mammal, with rats second. There's 50 billion chickens. By your definition, chickens are more optimal than humans. The nematode populations are measured in up to millions per square meter. With an estimated 1 million species of nematodes, the average nematode species population is comfortably higher than that of humans. There's an estimated one to ten quadrillion ants in the world across 22,000 species, so about 500 billion ants per species, on average. Again, higher than the number of humans.
There are about 1 million wheat plants per acre and 60 million acres planted gives a wheat plant population of over 1 trillion. (It hard to find numbers for non-commercial plant populations.)
But wait! Why look at multicelled animals? Bacteroides fragilis, Bacteroides melaninogenicus, Bacteroides oralis, Enterococcus faecalis, and Escherichia coli are found in basically every person's gut, so there's definitely way more of each of those species than humans. To say nothing of those species populations elsewhere. It's really hard to find estimates of the total number of a single bacteria species.
Would you care to revisit your statement that humans "are more optimal than any other species of animal"? At the very least you should acknowledge that chickens are more optimal than humans.
> the most "optimal" human would bear as many children as possible while ...
You wrote "his or her children" but you meant to write "descendants." In any case, you are viewing things on the wrong level. Evolution works on genes, not individuals. Humans, like other primates, are social beings. It is part of our evolutionary strategy to help others of our species, especially those we recognize as family. You'll easily notice that other mammals don't all follow the strategy you say is the evolutionary mandate. The naked mole rat is a favorite example; only the queen and one to three males reproduce, while the rest are sterile workers. Why do those workers work if they don't have children?
Some animals eat their own young, or preferentially feed the strongest (hence how cuckoos get others to raise their young) and leave the weak to die if there isn't enough food. These are obvious counter-examples to your assertion that parents "minimize all potential risk factors that could harm his or her children."
In addition, why did you choose a definition of "optimal" based on population count instead of, say, species longevity? Surely the Queensland lungfish, where fossils identical looking to the modern form exist from 100 million years ago, has a stronger claim to being optimal than H. sapiens' scant 500,000 years.
> After enough iterations this process can isolate genes that increase or decrease fitness.
Obviously. My point was regarding the length of time it takes. If "enough iterations" for humans is 50,000 then 1.5 millions years is longer than H. sapiens has been around. Now factor in that most mutations are either neutral or negative, and you end up with a lot of slightly detrimental mutations which last for a very long time. How then do you tell that an observed behavior, with no obvious, direct benefit (like nose picking) is evolutionarily beneficial or detrimental but following along on the coat tails of a more beneficial mutation?
If we want to redefine optimal to mean quantity of genes in the environment, then humans don't come out on top right now, but we could if we wanted to; I am sure that if we desired we could set up a lab to replicate more of our genetical material than any other species has in the environment.
Also, by this definition the most optimal human would theoretically attempt to turn all of the matter in the universe into copies of his/her genes.
A gene for a behavior that affects the number of sexual partners an animal has would likely have been selected for or against long before H sapiens evolved, thus enough iterations have occurred to weed out polygamy in mammals if it was a detrimental behavior. As for your ride-along-nose-picking thesis, I suppose it could be true. Nose picking only recently became a detrimental behavior in terms of evolutionary timescales.
Tell me, can you even apply your concept of "wanted to" to any other species? Which are the most successful fish species by this definition? Could any species of ant ever "want to" kill all humans? If they really wanted to, could they succeed?
As it stands then, your definition is useless, and propaganda for the supremacy of the humans species.
If we go extinct tomorrow - pretend this is the height of the Cold War and WW3 starts, with 50,000 nuclear weapons going off across the surface of the planet - then would an alien observer say that we were a successful species, because of our massive effect on the ecosystem, or would they say that we were a dismal species, which only lasted for a few hundred thousand years?
If we go extinct next year because of a hyper-virulent virus which kills only humans, would you say that that virus is more optimal than humans?
Your answers probably say more about you than provide a useful guide to how to measure evolutionary success.
As to the amount of genetic mutation present, that's just silly. There's 844 million tons of maize harvested each week, with plenty left as chaff. Assuming an average human mass of 65 kg and a population of 7 billion gives 460 million tons of people. Corn DNA is slightly larger than human DNA and plant cells tend to be smaller than animal cells. By the mass or count definition, corn is more successful than humans. There's 651 million tons of wheat harvest each year, but wheat's genome is 5x bigger than humans, so there's certainly more wheat DNA in the world than human DNA.
In any case, you're again too focused on the individual. Evolution only cares about genes, not individuals.
That's why your correct extrapolation - "the most optimal human would theoretically attempt to turn all of the matter in the universe into copies of his/her genes" - shows that that definition of optimality is invalid. Individuals aren't relevant. There's no guarantee that duplicated genes in cloned copies of a single individual are better at survival than having a mix of genes spread across a heterogenous population.
And your last paragraph shows that you don't understand the effect of mutation in evolution. All you are thinking of is the weeding out part.
Mutations occur all the time. Humans have about 0.003 mutations per genome per generation. For every 4000 births, there is a mutation. Few are improvements. Nearly all have no effect or are negative. Suppose one mutation has a really good advantage, and the only child from that person both 1) inherits the gene and 2) has a brand new nose picking mutation which confers a slight negative effect. Then that person's children will inherit both mutations. The really good one is going to spread, and the new, detrimental mutation will also spread -- even though it doesn't help improve survivability!
Of course I don't believe there is a "Monarchy" gene any more than I believe there is a juggling gene. These behaviors are too complex to be determined by any given gene. But probabilities and predispositions come into play. Genes that influence behaviors that create predispositions for certain complex behaviors in certain environments will still have selective pressure exerted on that 'ultimate cause' gene.
That is a individual-centered view of evolution. But evolution works on genes, not individuals. Had you said "our behaviors are shaped in ways that increase the fitness of our genes" then I would have agreed.
In your second paragraph, you said "Also, there are multiple levels when considering optimal behavior."
I disagree. There is only one level - that of the genes. If you're a Tasmanian devil and part of you mutates to produce the cancer which is devil facial tumor disease, and that cancer spreads to all of the other Tasmanian devils, and kills off the species, then evolution doesn't care. That set of genes managed to transcend the individual and survive without it. (Which is a good thing since it kills its host.)
Elsewhere in this thread I gave a model where two independent mutations occur at effectively the same time in the same person. One is a big advantage, the other a minor disadvantage. Both together still convey a big evolutionary advantage. This means that the minor disadvantage is very likely to spread into the entire population, because it's part of the same genome as the big advantage.
We see this all the time. As a trivial example, about 8% of our genome is made up of endogenous retroviruses. These are viruses which incorporated themselves into our DNA, and then a host mutation killed them off. They are no longer do anything for us. But our body spends a slight amount of energy transcribing them. No advantage plus slight disadvantage => net negative. Still, the evolutionary pressure to remove those bits of dead retroviruses is so weak that they have persisted for millions of years. We share some of that DNA with chimpanzees, for example.
There was likely never a time when those genes gave any advantage to an individual or even were net neutral, which is why I object to the statement "behaviors that are detrimental get weeded out."
Your statement assumes an infinite amount of time in a stable background - but species live for only a few million years (on average) and the background is always changing, so your statement isn't useful.
Genes create behaviors in their host organisms. This is a large class of affects that genes have that ultimately exert selective pressures. This is the correct level of abstraction to understand this mechanism. Similarly for analyzing unfit behaviors for an individual that are ultimately fit for the group as a whole, thus the behavior is not completely weeded out.
Gould's primary criticism held that human sociobiological explanations lacked evidential support, and argued that adaptive behaviors are frequently assumed to be genetic for no other reason than their supposed universality, or their adaptive nature. Gould emphasized that adaptive behaviors can be passed on through culture as well, and either hypothesis is equally plausible. Gould did not deny the relevance of biology to human nature, but reframed the debate as "biological potentiality vs. biological determinism". Gould stated that the human brain allows for a wide range of behaviors. Its flexibility "permits us to be aggressive or peaceful, dominant or submissive, spiteful or generous… Violence, sexism, and general nastiness are biological since they represent one subset of a possible range of behaviors. But peacefulness, equality, and kindness are just as biological—and we may see their influence increase if we can create social structures that permit them to flourish."
My resolution to the issue is to take the strict view that biological evolution only deals with genes, and that other mechanisms can be and are better at describing what you've termed the "higher levels" of selection.
The usual analogy is to computers, where software is constrained by the hardware, but still highly flexible. My own analogy is to think of weather. Fundamentally it's based on quantum mechanics, and at a higher level as particle dynamics, but weather forecast models use neither approach because because the minutia of those lower levels -- the detailed collision dynamics of a specific O2 against an N2 for example -- don't appreciably affect the large-scale weather. In fact, non-quantum mechanics can give rise to similar effects. There is no need to consider the effect of the weak force in order to predict tomorrow's weather.
Instead, weather is much more tractably understood as the gas law, along with parameters for "turbulent diffusion, radiation, moist processes (clouds and precipitation), heat exchange, soil, vegetation, surface water, the kinematic effects of terrain, and convection." It's absolutely true that weather is based in quantum mechanics, but it's not true that a quantum mechanics approach is the best way to understand the weather.
And I assert that that is the same for higher level behaviors, including even culture. Yes, there's an ultimate genetic basis somewhere in the depths, but a natural selection model based on genes is a poor instrument for understanding most human behaviors, and the attempts to do so have all had a sense of post hoc justification rather than having good experimental evidence.
Eg, just because certain dynamics models give rise to, say, homosexuality in a population, doesn't mean that those models reflect the actual process which gave rise to homosexuality in humans. It only means that gene-based evolution does not preclude an evolutionary model for homosexuality.
In any case, I gave a specific example of how an unfit behavior can spread to the entire population. It arises through a mutation, and that mutation happens to be in the same genome as another recent mutation which greatly improves fitness. This unfit behavior is both unfit for the individual and unfit for the group, but the negative consequences are so minor that there's little evolutionary pressure to weed it out.
I even gave the specific example of the endogenous retroviruses, which compose some 8% of our genome, which take some energy to maintain, and some of which are believe to have been inserted during a plague some 60 million years ago, though some are more recent. I find it hard to believe that any of those genes were ever beneficial to an individual or to the group, and yet after millions of years they still have not been fully weeded out.
(I do realize that these remaining sequences do not cause overt behavior. About all they do is take up time and energy during cell duplication. But that's still a behavior, and you have not placed a limit as to what evolution considers as a behavior or not.)
In any case, I think this thread is nearing the end. I thank you for your participation and consideration.
That, by the way, is exactly the reasoning I used when dismissing the claim that "women have affairs to increase the genetic diversity of the sperm that compete for her egg". There are various different depths of causality and levels of abstraction at which one could view women having affairs. That particular level is one which provides almost no explanatory benefit.
(Unrelated point below.)
In addition, it may also be wrong. At previous points in time scientists have claimed that there was an "obvious" evolutionary reason why women DIDN'T have affairs. The argument, as I have heard it, states that in primates the male of the species gets the most genetic diversity by having as many children as possible with as many females as possible. But since the female is limited by biology to a fairly small number offspring, she is better served (evolutionarily) by remaining loyal to a single male in order to increase the degree to which he will help provide for her offspring and thus increase their survival rate. (Remember: it's not the number of offspring, it's the number of offspring times their survival rate that counts.)
Of course, this theory was in vogue at a time when lots of people (erroneously) believed that men had affairs but women didn't. MY conclusion is that it's extremely easy to fool ourselves with evolutionary-sounding excuses for social and cultural behavior and that one should approach any such explanation with extreme skepticism.
Also, if she has chosen a partner it means he (and his sperm) are better genetically. If anything, she should be avoiding others' (inferior) sperm.
As far as having kids who are themselves not good providers, an alpha man's strategy is usually one of spreading his genes far and wide. If you're desirable enough, that may be a winning strategy for you.
That doesn't follow. The male gets preferential access, but that doesn't mean he shares that access with his offspring. And even if he did, he would still have a larger than average number of offspring thus the amount each one gets may still be lower than the beta male's offerings to his own.
Of course in practice whether the alpha is the best provider is determined by how the community is organized. In a alpha-male-with-harem setup, the alpha is the best provider. In other arrangements this isn't always the case.
An evolutionary "strategy" is simply a behavior that an organism exhibits to enhance its survival. Don't get caught up in the anthropomorphic terminology, its just a convenience to aid understanding. Dawkins uses that exact phrasing in his books.
You're describing a rather complicated behavior (who's actual existence itself is controversial!) and describing how that came to be. That's just fantasy. There's no evidence that this happened, it's pure speculation. If the behavior even exists, it could have come about some totally other way.
>say, the eye could.
I accept that the eye exists and that it got there somehow. I'm not convinced that the arm chair speculation of how that might have happened is true. If we actually made one that would be stronger but still wouldn't conclusively prove that it happened that way.
>Dawkins uses that exact phrasing in his books.
Dawkins' books are also largely philosophical in nature, not scientific (which is why he gets blasted in the philosophical community, since his philosophy isn't even always sound and ignores tremendous bodies of work).
The behavior of a female mating with a more "alpha" male while at the same time deceiving her mate has been observed in a plethora of animal species. That this behavior exists is without question.
What Evolutionary Psychology does is provide an explanation for a behavior given what we know about evolution, biology, economics, game theory, etc. It is quite scientific. Many EP theories are very much testable, albeit usually impractical. Science is always a game of probabilities and finding the best explanation for an observation given known facts.
>Dawkins' books are also largely philosophical in nature, not scientific
His first (biology) book, The Selfish Gene, which established him as a leader in the field, is 100% science. An Ancestors Tale is also purely science.
Funny, I was thinking the same thing.
>What Evolutionary Psychology does is provide an explanation for a behavior given what we know about evolution, biology, economics, game theory, etc.
It provides a guess on what could have happened based on those fields. To be science you need to be able to form theories and for an assertion to be a theory it must be falsifiable. An assertion to explain the modern woman's behavior toward mating in terms of evolution can not be falsified, so it doesn't qualify as a theory. Doesn't sound much like science to me.
As far as I know, you're in a pretty small minority with your claim that Evo Psych is science. A lot of people debate Psychology itself being science, but Evo Psych. Wow, may as well put homeopathy, voodoo and everything else in.
>His first (biology) book, The Selfish Gene, which established him as a leader in the field, is 100% science.
Nice. You imply that I know nothing about science yet you say a book that is largely speculating on what might have happened and why it might have happened is 100% science.
EP as a field is very much testable and falsifiable. Take the study that showed human women in economically depressed areas choose more masculine mates compared to more economically well-off areas. An EP theory would be that in an environment of scarcity and uncertainty, it is beneficial to mate with stronger males for the sake of protection and competition. Such an environment could be set up that controls for scarcity of food, level of testosterone in the males, etc. We could then measure the economic benefit of such a mate choice and the resultant improvement in selection fitness. The theory could be validated/refuted based on that. Of course, its applicability to humans would still be in question, but if animal models match the observed patterns in humans, that would be strong evidence in itself.
EP is based on a few assumptions, all of which have a preponderance of evidence in their favor. That genes influence behavior and that gene selection follows laws of economics.
I really don't understand most people's grief with EP. Perhaps you could explain it to me? Is it the fact that its theories aren't directly observable? Well, so is much of every scientific result. Evolution itself has been proven by the massive amounts of indirect evidence in its favor. Do you dislike the fact that EP removes some of our autonomy? Well, science has been slowly chipping away at that for decades. EP simply provides a framework to understand our behavior outside of the (dying) view of pure free-will.
>You imply that I know nothing about science yet you say a book that is largely speculating on what might have happened and why it might have happened is 100% science.
Please, explain to me what about The Selfish Gene is unscientific. If you honestly call the content of this book "speculating on what might have happened", then you either didn't read it or didn't understand a bit of it. The book provided a (mostly new at the time) look on a gene-centric view of selection and provided a framework that better explained the behaviors of various organisms that we see today. It is not speculation: it is informed, testable and falsifiable. Science is a framework for understanding the world; not studies and soundbites. It is a process of refining these frameworks in the face of new evidence and new ideas. E=MC^2 is much more than just the soundbite people have made it out to be; it was an entirely new look at the universe and how matter and energy are intimately connected. It's a shame that the vast majority of people only see it as a soundbite, and as a consequence think soundbites are the entirety of science.
The second point you make is very interesting and I have the perfect rebuttal. Unfortunately I don't have the book with me right now but a quote from a review on Amazon will suffice:
"And on pages 217-218 [Matt Ridley] explains why women cuckold their mates: "This is because her husband is, almost by definition, usually not the best male there is-else how would he have ended up married to her?" She wants the parental care of her husband and some other man's superior-she thinks-genes."
Here is the link to this book (one of the best I've read): http://www.amazon.com/The-Red-Queen-Evolution-Nature/dp/0060...
And although I haven't read this book (if you do, tell me what you think), I know that it talks more about how x% of children are not genetically related to their fathers: http://www.amazon.com/Sperm-Wars-Infidelity-Conflict-Bedroom...
The fact that men are often actively trying to get in women's pants likely has a greater effect on these statistics than women's genes' desire to reproduce.
That's scary. Did you explicitly consent to that? It sounds like you didn't...
By chance, I just read a typical life insurance contract and it already stated that if you have undergone a genetic testing, you do have to disclose your results if you enter into a life insurance contract >300.000€. This was stipulated in the contract and not under general German contract law. If you do not disclose your results, the company can void the contract any time and/or terminate it any time in the future.
This is going to be THE most important issue with genetic testing - the implications for your insurance contracts. Obviously, your test results can have massively positive or negative results.
edit: Specifically, "`(A) IN GENERAL- For purposes of this section, a group health plan, and a health insurance issuer offering group health insurance coverage in connection with a group health plan, may not adjust premium or contribution amounts for the group covered under such plan on the basis of genetic information."
Now imagine we have a test, that can predict it with certainty. Very soon only those with positive results will want insurance. The insurance against it will become unprofitable and discontinued.
"`(1) IN GENERAL- A health insurance issuer offering health insurance coverage in the individual market may not, on the basis of genetic information, impose any preexisting condition exclusion (as defined in section 2701(b)(1)(A)) with respect to such coverage."
Forbidding insurance companies to discriminate based on luck does not solve this problem, because the problem is caused by customers selectively buying insurance based on their own luck.
(Clarification: I'm describing reality-as-I-see-it. I'm not trying to make moral judgements on what laws we should or shouldn't pass.)
In insurance, people who get lucky subsidize people who get unlucky. If you can test luck before getting insurance, then lucky people don't get insurance and there's nobody left to subsidize unlucky people.
> Forbidding insurance companies to discriminate based on luck does not solve this problem, because the problem is caused by customers selectively buying insurance based on their own luck.
It's a little more nuanced than that. Let's say men are more prone to car crashes than women. Either you charge men more for auto insurance, OR you charge everyone a flat rate, and the market will rapidly clear itself of all women, since that flat rate will be too high to appeal to women. In this case, you end up with a market that's exclusively men, and women are uninsured.
When applied to health insurance, this means that, if you're forcing companies to insure everyone, they will have to insure people predisposed to expensive illnesses at incredibly high rates, because that's the expected cost of their lifetime care.
One implication of this is that the "no discrimination for pre-existing conditions" portion of the ACA is equivalent to "if you have a pre-existing condition, your coverage will be exorbitantly expensive".
There are ways of hiding this extra cost, but at the end of the day, it's like sweeping dust under the rug: it all has to sum to zero.
Insurance really only works when either 1) what it covers is truly unpredictable or 2) everybody is required to participate regardless of whether they really need it.
That does leave a time when the risk is still insurable: before the test is conducted.
One can imagine it evolving as an additional service that the testing provider may partner with insurance companies to provide. At the time you buy the test, they say "if you pay an extra $X now, you get insurance against us finding anything catastrophic."
(Just idly speculating here, who knows how these things will play out in a combination of regulatory, market, and technology changes.)
But that's one of those inconvenient truths that American politics refuses to confront.
http://europa.eu/rapid/press-release_MEMO-11-123_en.htm?loca...
https://en.wikipedia.org/wiki/Patient_Protection_and_Afforda...
Also note the limitations are not very comprehensive. Health insurers could use genetic info and then find ways to deny you coverage on a technicality (didn't disclose tonsilitis at age 4 - DENIED). There's no civil remedy in the law so it would be up to you to petition the Federal government to carry out some sort of enforcement action against insurers, which seems less than likely.
How could that work once the Affordable Care Act goes into effect? It requires Guaranteed Issue, so insurers can't do that. Insurers have to accept anyone who requests their plan and they can only vary premiums based on age, location, and smoking.
http://www.ncsl.org/issues-research/health/genetic-nondiscri...
While it isn't covered by law in all states (yet), my state restricts discrimination for life/disability and requires informed consent to use genetic information.
https://customercare.23andme.com/entries/21262356-could-my-g...
http://blog.goldenhelix.com/?p=1534
in which he applied his own industry knowledge to his updated 23andMe report. His conclusions suggest that the product needs much more work:
"I promptly sent an email off to 23andMe’s exome team letting them know about what is clearly a bug in the GATK variant caller. They confirmed it was a bug that went away after updating to a newer release. I talked to 23andMe’s bioinformatician behind the report face-to-face a bit at this year’s ASHG conference, and it sounds like it was most likely a bug in the tool’s multi-sample variant calling mode as this phantom insertion was a real insertion in one of the other samples."
. . . .
"But because GATK has been used so prolifically in publications and is backed by the Broad Institute, it can be viewed as a 'safe' choice. As small labs and clinical centers around the world are starting to set up their DNA-seq pipelines for gene panel and exome sequencing, they may choose GATK with the assumption that the output doesn’t need to be validated.
"And that would be a mistake.
"GATK is as susceptible to bugs as much as any complex software. Their new mixed licensing model (free for academic, fee for commercial) is intended to add more dedicated support resources to the team. I suggest they think about adding dedicated testers as well."
So for those of us following along at home, the crucial idea is that most of the "information" that 23andMe provides paying clients has not been validated. Not only has it not been validated as to correctness of the genome analysis software (the industry scientist's observation), it has even less been validated as a clue to clinically significant disease risk for the majority of diseases that afflict people in developed countries. Pay your money for the service at the new lower price if you like, but prepared to see your personal genome results repackaged and reinterpreted for years to come before you learn anything from them that will help you improve your health.
The GATK is a research tool in active development. "Clinics beware" makes little sense because it's not like there is any real alternative (aside from other research tools). This is new territory for everyone. It almost strikes me in the same way as if someone were to say, "Users beware: Linux is a research tool". Whether or not it is a research tool doesn't change that misuse of the tool will lead to poor results.
It's been a little over a year since I last directly used the GATK's caller, but at that time indel calling (the thing that produced this blogger's error) was experimental and clearly labeled as such in loud capital letters.
Also, the GATK does not make one use insane parameters such as allowing variant calls supported by 0 reads; that's the choice of the person running the software...
This is new territory for everyone.
I have developed a habit of liberally upvoting most of your comments on threads related to biology, as I consistently learn from them and see you taking the time and effort to correct popular misconceptions as you participate here. So knowing that I'm asking someone who'll give me a straight answer, I wonder if you could comment specifically on my statement above
"So for those of us following along at home, the crucial idea is that most of the 'information' that 23andMe provides paying clients has not been validated. Not only has it not been validated as to correctness of the genome analysis software (the industry scientist's observation), it has even less been validated as a clue to clinically significant disease risk for the majority of diseases that afflict people in developed countries. Pay your money for the service at the new lower price if you like, but prepared to see your personal genome results repackaged and reinterpreted for years to come before you learn anything from them that will help you improve your health."
I'm heartily in agreement with the idea of doing fundamental research on the human genome and gathering large datasets to analyze to look for genetic clues to human health and disease. I participate each week during the school year in the University of Minnesota "journal club" on behavior genetics, in which a group of scientists (mostly psychologists, but a few mathematicians and economists) who investigate genetic influences on human behavior meet to discuss the latest papers on new research. The overwhelming impression I get is that commercial businesses like 23andMe certainly mean well, and are trying to make available new gene analysis tools to a broader public. But that they are running ahead of their ability, based on current science, to deliver actionable information to the clients who pay for their services. There is still an astounding lack of replicability and of large effect sizes in almost any genome study related to common human diseases or to socially meaningful human behaviors. Much more research needs to be done.
> So for those of us following along at home, the crucial idea is that most of the 'information' that 23andMe provides paying clients has not been validated. Not only has it not been validated as to correctness of the genome analysis software (the industry scientist's observation), it has even less been validated as a clue to clinically significant disease risk for the majority of diseases that afflict people in developed countries.
In general, what you say here is going to true. I can't comment specifically on what 23andMe claim to demonstrate, because I haven't seen their actual output, but it's usually very difficult to go from genetic data to individual risk prediction. In fact, trying to do so is low-yield-enough that I don't even expect to find individual risk prediction to be interesting for most diseases (at least, not for the next several years). So heuristically I will assert that any claims about individual risk prediction, for most diseases, are unlikely to be clinically important. The obvious exceptions are Mendelian genetic conditions. If they find that you are homozygous for CFTR ∆F508, you're almost certainly going to develop cystic fibrosis (well, you'd probably already have clinical symptoms by the time you get the test).
But a good number of disease conditions aren't (typically) Mendelian. Will you develop heart disease? If you have certain high-impact mutations in the LDL receptor, we might be able to say with reasonable certainty that you will develop heart disease by a certain age. But high-impact mutations are (usually) rare for most diseases.
The majority of what we have been discovering over the past few years are common variants of modest impact (powerful statistical associations but with odds ratios barely differing from 1). When we try to answer questions like, "Why do black Americans have more heart disease in the US?" we don't get smoking-gun mono- or oligogenic answers.[1] Even combining these markers (that are known to be robustly associated with a phenotype) into a single score doesn't do a whole lot more than just knowing the biomarkers that we already measure.[2]
Finally, we have to wrestle with the issue of causality. For example, increased HDL-cholesterol is epidemiologically associated with decreased risk of heart disease. So people say, "HDL is good cholesterol." OK, maybe. My colleagues tested that hypothesis with one single nucleotide polymorphism in a gene that appears only to modify HDL-C levels, LIPG. (Most genes that modify HDL-C also modify LDL-C or triglycerides, and pleiotropic effects ruin your ability to assess a single biomarker.) They said, "Epidemiologically, an X% increase in HDL-C associates with a Y% decrease in risk of heart attack. Also, this LIPG SNP associates with a J% increase in HDL-C. Therefore, based on that J% increase in HDL-C, we expect a K% decrease in heart disease if HDL-C is a causal biomarker." What was the result? The LIPG SNP had the expected effect on HDL-C levels, but had absolutely zero association with your risk for heart attack (the OR was like 0.99 with a CI that easily included 1.0). In contrast, an LDL-C SNP score had a robust association in the expected direction (more genetic variants that are known to raise LDL-C? more heart disease risk).[3]
In other words, is HDL a causal protective factor? It appears that, for at least one cause of high HDL-C, it is not. (This doesn't give me license to dismiss the entire HDL hypothesis and I wouldn't intend to do that without exhaustive scientific work, of course.)
How much of this is out there? Probably tons. It's probably only known by domain experts, or (more commonly) nobody.
So if you're still following this minimally coherent post, we're discovering common variants with very weak effects that often impact biomarkers which may or may not be causal for the diseases of interest, and our view is being revised all of the time.
Is it interesting? From a research perspective, yes, it's awesome. We're finding all of these landmarks in this enormous genomic map. This gives us insight into the architecture of diseases. It gives us smarter therapeutic targets. It helps us evaluate potential therapeutic targets via tools such as Mendelian Randomization to save years of time and billions of dollars avoiding clinical trials that are unlikely to bear fruit (one example of which I discussed above with the LIPG paragraph).
But to an individual alive today wondering about the direct clinical utility of this information? Not today, not right now, not in my opinion. If it's any indicator, I haven't done 23andMe, and if I did, it would be for entertainment purposes.
Will this stuff be in clinics in a few years? Yes, probably. Will it be useful? My guess is that it will be most useful, even then, for research. Eventually there will be clinical significance, but I suspect that the clinical significance will largely go hand-in-hand with the development of therapeutics that have specific genetic targets (e.g., perhaps you have some predisposition to developing cancer, but with your genotype we know that if we give you these 3 tyrosine kinase inhibitors you're very unlikely to develop cancer). I could see that developing.
> Pay your money for the service at the new lower price if you like, but prepared to see your personal genome results repackaged and reinterpreted for years to come before you learn anything from them that will help you improve your health.
Yes, this is absolutely true; there is much more work to be done, and if 23andMe's users are lucky they'll have to keep re-downloading their genomic data as they are updated with new information. If they end up stuck with what we've got now, well, that's stable but incredibly boring.
> But that they are running ahead of their ability, based on current science, to deliver actionable information to the clients who pay for their services. There is still an astounding lack of replicability and of large effect sizes in almost any genome study related to common human diseases or to socially meaningful human behaviors.
I think that there is actually remarkably good reproducibility of the genetic associations with common human diseases, but these are mostly of small effect. A lot of the associations in the candidate-gene/pre-human-genome era do appear to be spurious, however.
1 = http://www.ncbi.nlm.nih.gov/pubmed/21347282?dopt=Abstract
2 = http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845522/
3 = http://www.thelancet.com/journals/lancet/article/PIIS0140-67...
This is precisely the spirit of the project from my interpretation. Increase the data set that is available for trend analysis, and therefore increase the quality and precision of the predictive analytics available.
Edit: I was the first engineer at 23andMe, so I have a decent idea about what's involved in the analysis and quality control.
I just used 23andme from Canada during the $49 A/B testing. Delivery was next-day, and other than 15ml of saliva being a lot to collect, the process was pretty smooth. They say it'll take 2-3 weeks, but realistically it took them about 4 business days to process my sample.
Unfortunately, almost all the results are for Europeans. There may not be that much of a difference between Europeans and Asians (I'm not sure), but it's worth mentioning. They also don't test for repetition induced diseases, so things like Huntington's won't show up.
Wasn't it 2ml?
In this case, that only matters if your direct ancestors have it anyway. If your grandparents or (worse) parents have it, you probably want to get a different test (if you want to know).
http://too.blogspot.com/2008/09/lrrk2.html
Because of 23andme he found out early that he has a high chance of getting parkinson's disease. He now has the chance to prevent (or at least prepare for) it.
To my knowledge, this has not come up yet, but I'm sure it will one day.
Plus, you could be an unmentioned adopted-out person, which would look identical, so they couldn't prove it was you without further examination.
for example, in humans it's relatively easy to predict eye colour with about 99% certainty (but only if the colour is identified as "brown", "blue", "green" - nothing complicated!), however, skin colour is harder to predict (72% correct in this paper) - https://www.sciencedirect.com/science/article/pii/S187249731...
People always assume that you can just look at the genes and immediately perfectly predict what's going on with the person in question, but a) people forget about gene/environment interaction (think about human height, only about 5% predictable using SNPs) and b) our science is simply not so far, and especially SNPs (right now the main product of 23andMe) don't predict as much as people would like them to.
Given the history of the NSA/CIA and so on, they probably will try to harvest all available genetic data they can to help identify people they are interested in the future. Genetic information without an identity can be matched after the fact, probably by more extensive biometric border checkpoints in the next few decades.
See the 'Information Disclosure Required By Law' section: https://www.23andme.com/legal/privacy/
The CIA could not care less about your genotype.
[1]: http://www.nytimes.com/2012/11/25/business/seeking-cheaper-i...
"Sorry sir your infant child is not eligible for that heart operation due to the genetic marker we discovered in your profile."
The premise of insurance is that you are insuring against the unknown. If you know that something is the matter with you, then it's no longer insurance. It's getting someone to pay for a treatment that you know you will need. Whether other people should be paying for that is another discussion.
I do think a nontrivial amount of the mess in the health care system is the confusion between the two. People want to create health care plans, but they are trying to make it out of insurance companies, which is going to be problematic at best. Further, people want health care plans but don't want to think about it from an actuarial perspective... because they don't like the answers that come out. That doesn't prevent the answer from coming out, but it does mean we end up trying to build glorious systems that seal themselves away from reality from the get go, and that also can only be problematic at best, total failures at worst.
And as of 2014, regardless of the nature of the evidence, insurance companies will no longer be allowed to exclude customers based on predisposition to illness or preexisting conditions.
In fact, HIPAA might have already forbidden that. The law wasn't clear but it's entirely moot now.
Because of money.
"`(A) IN GENERAL- For purposes of this section, a group health plan, and a health insurance issuer offering group health insurance coverage in connection with a group health plan, may not adjust premium or contribution amounts for the group covered under such plan on the basis of genetic information."
Don't think that's legal.
> What if employers require their employees to do this much like drug / background checks?
Also don't think that's legal.
We already have employers requesting "voluntary" disclosure of health information (e.g., cholesterol check) as a condition of continuing group insurance coverage. Since it's illegal to require this information, they make it voluntary - but anyone who opts-out also opts-out of a hefty premium "discount". In reality, the "discounted" rate is closer to what employers would expect to pay for comparable group plans, while the non-discounted premium is high enough that 99% of employees line right up to have their blood drawn by the visiting nurse (conveniently stationed in the conference room down the hall).
1. Genetic disorder. Tay–Sachs, etc. This stuff is priceless, because in the past, you had to pay thousands of dollars to get these same tests tone. These are accurate and very worthwhile ... but the majority of people will come back with all negative results, which is actually a good thing.
2. Your "increased risk" to certain diseases, like heart disease, etc. IMHO, these aren't worth much. A substantial portion of the risk for these types of diseases is related to lifestyle, so take it with a grain of salt.
3. Fun info, like telling you your eye color, where your ancestors came from, etc.
> why are their tests not being subsidized by insurance companies.
Insurance companies really only want #1. And guess what? That's info that I really don't want them to have.
This is just to say that that sword has two edges.
EDIT: Made it abundantly clear that this is not my own personal fatalistic perspective.
Just because you're more inclined to do something, doesn't mean you're likely to do something. See the other comment about a 50% increased likelihood moving someone from 1% to 1.5% risk of succumbing to alcoholism.
That said, a lot of people may make the same mistake and succumb to alcoholism erroneously based on the tests.
Let us assume that the absolute risk is non-negligible, and that the predisposition is also non-negligible. Even then, the way that an individual responds to knowledge of genetic risk is idiosyncratic. Some will fight the predisposition even harder, others will succumb even quicker, still others won't know or care.
Because we are talking about the psychology of the individual, and because people do not understand statistics, much less the difference between absolute and relative risk, the fact that the absolute risk for virtually every disease is very small will not matter when an individual considers the issue psychologically.
What does that mean?
If the probability of alcoholism is the general population is 1% ... well, that means yours is 1.5% ... or still ridiculously small.
Obviously those are just numbers I'm using to illustrate a point, but you see where I'm going with this.
In the case of cardiovascular disease specifically, one might not want to do that.
You still have to pay thousands of dollars if you need the results for actual medical purposes. 23andme only tests for a few of the common SNPs that can cause each disease, but the testing isn't as comprehensive as what you'd get from a doctor.
4. You're (nearly) immune to an infectious disease. It's good to know when a friend is puking their guts out that I can help take care of them since I'm one of the lucky 20% of white people with wonky fucosyltransferase that won't act as a receptor for the virus.
And knowing (2) lets channel potential anxiety about salt consumption into anxiety about fat consumption, letting me stay healthier on a given anxiety budget.
However, medical knowledge isn't at a high enough level for these accurate genetic results to translate into truly meaningful medical results except for a handful of conditions. What does a 10% increased risk of getting diabetes mean to the average person? In practice, it means nothing, because you would act the same with or without this risk.
Second, 23andMe is already walking the fine line of not needing FDA approval. If insurance companies were to pay for it, there's a good chance it would require this. There are several conditions that can be self diagnosed through 23andMe that require genetic tests that cost more than $99 through your doctor, but each of those tests has gone through a medical approval process.
Still, I'm glad I did it, 23andMe is a very enlightening experience. I even found some distant relatives I never knew about.
I did it on a whim, then it turned out I carry the gene for an elevated risk of something nasty. Then I was like, yeah, you got my attention now.
Just an example of how you could become "interested in" it post-hoc.
They keep mentioning the benefits to science, but can you actually access their database as an academic?
https://customercare.23andme.com/entries/22605618-i-recently...
Projects like openSNP however give people a space to voluntarily upload their data for scientists to use.
I suppose it's half justified as pointed out in the FAQ/Forum the samples regular get stopped and fines levied because they think its hazardous
https://customercare.23andme.com/entries/21262316-do-you-tak...
Overall I am pretty disappointed with data I received from their service. For example I supposedly have genes that make me risk for obesity, yet I was most of my life very skinny and in recent years gain some weight because I thought it wasn't healthy to be so skinny. So, I wonder what kind of useful into others can get, when we can't even confirm basic info. I also believe (it was a while ago) that color of our eyes was 'guessed' wrong'.
https://my.personalgenomes.org/profile/hu840B0B
My brother:
https://my.personalgenomes.org/profile/hu6A0E65
Also, feel free to ask me to share my full 23andme profile (ancestry and health) to anyone interested.
I was almost 23andme's infrastructure engineer two years ago until my father came down with lung cancer and I had to decline the offer (would have had to move across the country). Still a supporter/advocate of them though. (If you read this Steve, thank you for the opportunity and being willing to take a chance on me. It changed my life and career for the better).
I've done both, and to be honest, FamilyTreeDNA seems more comprehensive to me.
The genealogical data is one of the main things I'm looking for; 23AndMe has been "OK" and AncestryDNA has just been a waste.
I'm wondering if it would be worthwhile to pay for a data import onto FTDNA.
Luckily I got in during the sneaky "price test" on Cyber Monday at 50 dollars, so I'm good.
But, fantastic nonetheless.