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The Farce of Hyping Gene Studies

Barnum By John Stone

I could scarcely believe my eyes last week when BBC news made its principal story one morning last week a genetics paper purporting to “prove” the ADHD was a genetic disorder (HERE ).  In fact, the study had really only at best discovered a modest statistical association between a genetic pattern (against controls) in 15% of cases. The authors no doubt eager to draw attention and further patronage for their activities could probably scarcely believe their luck with such a publicity coup. Equally fascinating was the speed with which the BBC realised its boob. By 9.30 am veteran correspondent Fergus Walsh was reporting (HERE ):

“There is a danger of reading too much into new research in the Lancet on attention-deficit hyperactivity disorder (ADHD). The headline of the Lancet press release says: "Study is the first to find direct evidence that ADHD is a genetic disorder". One of the authors, Professor Anita Thapar is quoted as saying: "Now we can say with confidence that ADHD is a genetic disease and that the brains of children with this condition develop differently to those of other children".

“That's that then. Or perhaps not. Because those bold claims do not seem to be borne out by the actual research paper. The study analysed DNA from 366 children with ADHD and 1,047 controls. They found that those with ADHD were twice as likely to have chunks of DNA missing or duplicated, areas known as copy number variants. This genetic variation was also found to be more common in brain disorders.

“I have done the sums and around 15% of the ADHD children had the genetic variant and about 7% of the control group did not. Put that another way, it affected one in seven of the ADHD group and one in 14 of those without.

“That also means that seven out of eight of the ADHD group did not have the genetic variant - which hardly justifies Professor Thapar's confident assertion that ADHD is a genetic disease. I put this to Professor Thapar and she was keen to stress that she was not asserting that genes alone were responsible for ADHD but rather a complex mix of genes and environmental factors.”

We might even go further and point out that if not children with these gene variations have ADHD then you can scarcely have done more than establish a possible vulnerability to external factors. Let’s face it, even Fergus Walsh could work that one out. He might even have added how disappointing all this was after decades of gene research. Well, that would have been going rather far for the BBC!

The truth is that the amount of noise coming out of the gene research fraternity these day is in inverse proportion to its achievement. Last year a leading biologist Steve Jones wrote in the Daily Telegraph (HERE ):

“It's not done to kill the goose that lays the golden eggs, nor to bite the hand that feeds you – nor, in my own profession, to criticise the research programme of the Wellcome Trust, an enormously rich charity that paid much of the bill to read the message written in human DNA. Not done, perhaps, but a pack of renegade biologists has turned on that source of nutrition to claim that what it is doing is welcome, but plain wrong.”

Jones points out that in most cases there are no specific genes connected with medical conditions and that this is no longer a sensible way to research illness:

“In other words, our chances of being born with a predisposition to a common illness such as diabetes or heart disease are not represented by the roll of a single die, but a gamble involving huge numbers of cards. Some people are dealt a poor mix and suffer as a result. Rather than drawing one fatal error, they lose life's poker game in complicated and unpredictable ways. So many small cards can be shuffled that everyone fails in their own private fashion. Most individual genes say very little about the real risk of illness. As a result, the thousands of people who are paying for tests for susceptibility to particular diseases are wasting their money.”

Of course, if you were allowed to say this in a wider public arena about autism/gene studies as well ADHD/gene studies we might have been spared the prolonged farce of the Pinto study earlier this year  (HERE and HERE )with 176 authors (including Geraldine Dawson of Autism Speaks), complete with abusive comments from David Gorski of Science blogs (HERE ), and we might have been spared the new collection of ‘dinosaur’ studies from Autism Speaks so aptly reported on by Teresa Conrick the other day (HERE ).

But, of course, with autism – for public purposes – the less you find, the greater the success, and gene studies are the perfect medium.

 

 

 

 

 

 

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@ maurine

I do see a possible correlation between infant jaundice and autism, but ONCE AGAIN, it's a situation where a true medical condition is caused by industry and ignorant doctors.

Infant jaundice usually occurs in breastfed babies whose mothers were not given proper advice on how often to breastfeed and in bottle-fed babies, who are being given formula rather than breastmilk. The doctors advise the same schedule as is detailed in the little pamphlet handed out at the hospital--the same pamphlet that is conveniently created by the formula industry--they say to nurse a newborn every 2-3 hours.

Any lactation consultant will tell a new mom, especially a first-time mom, to nurse every 30-90 minutes. Less than that results in a dehydrated--and jaundiced baby.

Jaundiced and dehydrated babies are usually given formula because the formula industry managed to convince the doctors that jaundice is somehow caused by breastmilk.

And even Andrew Wakefield has said that formula-fed babies are more likely to develop autism, and more likely to be much more severely affected.

The formula industry is very nearly as evil as the pharmaceutical industry. They certainly share the same marketing tactics.

Unbelievable.

Thousands of children develop autism within days, sometimes HOURS of vaccines, and we are told "correlation does not equal causation."

A statistically insignificant number of autistic children share a gene sequence that MOST autistic kids DON'T share (so it doesn't even qualify as correlation) and they trumpet this as the cause of autism??

Unbelievable.

Why are people so gullible as to swallow this???

John, Last week, David Freedman was interviewed on our local NPR station. Freedman just published: WRONG: Why experts* keep failing us--and how to know when not to trust them. It's about all the forces that push experts, be they top scientists, high-powered consultants, pop gurus, financial whizzes or journalistic pundits (like me), into misleading us with flawed advice, and discusses ways to tell good expert advice from the dubious stuff.

During the interview he "specifically" cited genetic research as wrong 90% of the time.

Freedman explains the flaws that all too easily worm their way into research, including deliberate fudging of data and downright fraud. Fellow journalists, more interested in flashy copy than accuracy, come in for their share of the blame.

The conumdrum they have is the increasing numbers regardless of whether a gene exists.

In terms of evolution, I think if there was an autism gene, we would see a decrease in the number of children not an increase.

Since autism does not favor survival, it would have likely been naturally selected out of the gene pool so the numbers would be going down not up right?

Nothing natural about this..it's a manmade epidemic for sure.

Stay away from the word. By the book,,, Autism is a genetic untreatable neurological disorder. Most of these children are just plain poisoned. It's all in the vocab to protect money. Sue anyone who gives your child an ASD label without ruling out medical disorders. seriously

They'll do anything to exonerate vaccines and make big money off of corrupt genetic studies. A new study just came out from Denmark that found a correlation between jaundice at birth and autsm. I'd trust a Denmark study as much as I'd trust Hamlet
Maurine
(unless the jaundice is the result of early vaccine insult).

According to Benedetta's ped, children who were genetically lacking a proper autonomic response would be better equipped to survive in primitive conditions. Say what??

As Benedetta even pointed out, at the very least they would not have been successful hunters. That genetic trait would have been selected for extinction.

The genetic trait of a robust and correctly functioning autonomic response--fight or flight--would have ensured the survival of humans with this trait. Only offspring that were able to withstand bleeding injuries with effective clotting ability or strong adrenaline responses to allergic reactions to novel allergenic foods or toxins would have selectively survived and this genetic trait would ensure a survival of the fittest. (Credit Dr. Abram Hoffer for this insight).

A more likely theory that would explain the surge in children with symptoms of ADHD is in the context of a hyper-stimulated immune response. A genetic trait that would be advantageous for survival of humans, enabling the ability to quickly respond to physical danger/harm could have disasterous effects if upregulated to the point that resulted in excessive adrenaline production (think mania) and a hypercoagulable state (think stroke). I can imagine a vaccine-induced hyperstimulated immune reaction that would result in anaphalaxis were it not for an upregulated genetic trait that responds in kind to contain the threat. As vaccines are designed to upregulate an immune response for an extended period of time, the proper physiological response to this in a selectively, genetically fit human would be an extended upregulation of the corresponding autonomic response. Concomitant with that increased and sustained fight or flight expression is unfortunately also the suppression of parts of the immune system. The children I know with ADHD tended to have a history of strep and ear infections.

The effects of the stimulant medications on children diagnosed with ADHD are not fully understood and I believe the mechanisms by which they are calming to some children have yet to be correctly identified. In the balancing of neuro/immune hormones, it is a tightrope act in the dark.

So far, 70 years worth of Down's Syndrome "genetic study" has produced a test for an abortion.

Autism is nearly 30 times more common than polio, ADHD probably 200 times more common than polio... It would seem the "damn gene" would be very easy to find, rather than a endless damn mystery... needing more funding.

They will never, ever, have anything more than hype. Sadly, research for hype is funded and pays about the same as real research.

It's the genes! It's the genes!

All the gene stuff is just another way to write off a group of people. If it is the gene's then there is nothing that can be done. End of Story! This is CRAZY! People who have a famil history of Alcoholism can't not become alcoholics if they never drink.

It is a shame that there is no accountability of the people who are poisoning our children because of greed for money or power.

Bring on the fruit flies
I doubt our ped read, because that would mean he actually had to make an intelligent/thinking/thoughful decision for himself on what books to read. I am sure that he has gone to some symposium/conference/meeting with all the other peds and listened to a speaker present this information to him.

My children's peditricians every last one of them (all five) must be a prequisite to being a ped were very good parrots - human cassettee machines (records and then plays it back)

So, thanks for the information - it is interesting where that came from.

To bad the author of this book did not probably do any hunting - I do not hunt, but I have spent hours in the woods in my youth and I could have pointed out to this author that in hunting it takes hours of sitting quietly because walking in the woods is impossible not to make a lot of noise from the fallen leaves.

Even in grasslands sitting quietly waiting in the high grass is what predators do! Hyperactivity, or attention problems is not a good thing for a predator.

They are desparately trying write this all off as genetic hence the media spin...the problem is, it's too late. Senior scientist from the EPA and HHS have already gone on the record saying there's a strong environmental component.

Even Dr. Thomas Insel said:

"Along with known genetic disorders that cause ASD, such as Fragile X and Rett Syndrome, these new mutations may collectively account for 10 to 15% of ASD cases...For ASD, the research evidence has pointed to prenatal environmental factors as most salient. While there is increasing research into environmental factors that might contribute, thus far no one factor appears to explain the large number of, or apparent increase in, cases of ASD."

Source: NIH
http://www.hhs.gov/asl/testify/2007/04/t20070417a.html


I think were dealing with is an immune dysfunction triggered by environmental toxins incl. vaccines (the likely culprit that started the dysfunction.

Our kids are chronically sick/ reacting to toxins in the environment due to an immune system that isn't equipped to protect them.

We should listen to scientists like Dr. Mario Capecchi who said there's a direct link between mental illness and immune dysfunction specifically defective microglia in the brain.

I'm reposting Dr. Capecchi's full interview for those who haven't seen this, well worth watching

http://www.ksl.com/?nid=148&sid=10947928

"I wish I had all my money back that I paid my son's ped and then had to listen to him explain again and again what ADD and ADHD is and why it is. He would say it is genetic because a long time ago it was in our best interest not to concentrate on one thing for too long or we would be eat by saber tooths, or killed by arrows from Indians. Attention deficit was nessacary for survival."

Benedetta, That sounds a lot like a book from a few years back - "A Hunter in a Farmer's World."
The author wrote of his theory:
"At first, I only meant this as a paradigm or metaphor, but as you'll find from reading my later books on the topic (particularly ADD Success Stories and "Beyond ADD"), I'm becoming convinced that it's actually good science as well. In any case, it's as good a theory as anybody has."

So there you have it: paradigm or metaphor becomes "good science." That's how it works now, isn't it?

We're hardly living in the “Wonderful World of Disney,” but lately when I read about a study like the above, I see Cinderella's two step-sisters trying on the famous glass slipper (“Cinderella” was the video of choice, perhaps a little too often, among my younger siblings).

Anastasia's turn comes first, and she happily declares a perfect fit until the plump little royal attendant pulls her foot out of the folds of her skirt and it is apparent to all that the slipper covers little more than her big toe.

Next, Drusella bops the poor attendant on the head, grabbing the shoe-horn and declaring, “You clumsy! I’ll make it fit!” And she forces her also unusually-long foot, at least the toes and the heel anyway, into the slipper. The moment of excitement over a “successful fit” is short. Her foot springs the slipper into the air, sending the duke and attendant into a panicked pile-up to save the precious key to finding the prince’s true love.

Meanwhile, the evil step-mother has Cinderella locked away in tower, with no intention of letting her be known, no matter the outcome.

Hi Maria.

Yes, we have read and heard for years about genetic types of autism. It is interesting that not many researchers have looked into the causes of WHY they might happen. In the book, Age of Autism, Mercury, Medicine and a Manmade Epidemic, the authors, Olmsted and Blaxill point out that Down Syndrome, like autism, had a starting point.... the polluted and coal-filled city of London (mercury). Fragile X also has been discussed as an environmental insult to cause defects..ie the "fragile" X.

I wrote about both here in a post last month:

http://www.ageofautism.com/2010/09/fishing-for-answers-autism-genes-and-mercury.html

And more, back to even earlier days: "GENETIC EFFECTS OF ORGANIC MERCURY COMPOUNDS - CHROMOSOME SEGREGATION IN DROSOPHILA MELANOGASTER - 1967" HERE "mercurials cause c-mitosis at exceedingly low concentrations....mercury compounds act as mitotic poisons, giving rise to c-mitosis and polyploidy." (polyploidy (genetics), the condition in which a normally diploid cell or organism acquires one or more additional sets of chromosomes.)

"An increased effect of mercury induced exceptions was found in males carrying a heterochromatin deficient X chromosome." Could this be a link to Fragile X?"...

"These observations are of interest from a practical point of view in relation to the mercury pollution of the environment, referred to earlier. This pollution includes some important human food stuff, like eggs and fresh water fishes, and therefore it obviously is of interest to establish what kind of human health risks may be involved. With reference to the experimental data, the genetic aspects of such a health problem primarily concerns the risk of an induction of cells with aberrant chromosome numbers. This might cause an increase for instance of trisomic defects like mongolism or Klinefelter's syndrome. Although it of course is difficult to relate the data obtained on Drosophilia to the situation in humans, the present results do indicate the possibility of such a genetical risk."

SO this would indicate that these disorders ("genetic autism")are NOT solely genetic but instead sure look to possibly be an environmental insult and mercury has been shown to do that.

And thanks John for including me in your list. Blaming genes to deny damage and/or culpability is beyond irresponsible by many of these funded researchers.

Why are we rehashing all this anyway???

Did not Tom Insel say in one of those IACC meetings that it was environmental???

Did not some Congressional hearing - say it is environmental???

Oh, that was autism not ADHD OR ADD. Hey, my son has ADD listed in with all his other problems coming from a stroke as a baby along with PDD-NOS, tourettes, OCD, anxiety, speech problems too!

When I heard this genetic study, I knew instantly that it was garbage - because I know it is environmentally linked to all the other crappy stuff going on with our kids. However the public half listening - says to themselves- oh genetic - case closed - sticks this in their minds for all time, so CDC, NIH and all the rest is off the hook. My gosh - can't blame them for a genetic problem.

I wish I had all my money back that I paid my son's ped and then had to listen to him explain again and again what ADD and ADHD is and why it is. He would say it is genetic because a long time ago it was in our best interest not to concentrate on one thing for too long or we would be eat by saber tooths, or killed by arrows from Indians. Attention deficit was nessacary for survival.

I did not buy it then, and I sure don't now. As a school teacher -I truly know what it means to a child to have ADD, or ADHD and it is not pretty. Survival means that you don't go around like a chicken with it's head cut off, half finishing a job, not finishing anything. That means that the corn patch centuries past didn't get plowed you would starve.

ADHD - is not really appreciated by many of just what a bad deal it is for children.

I watched my nephew struggle with this for years. His own little swing in the yard - and how he would swing was - so very disturbing to watch. It looked like something out of a horror movie or a lunatic house. He couldn't get through highschool - had to drop out. He can not hold a job - has lost job after job. He cannot decide on a career in college and keeps changing careers. His mouth gets him into trouble too. He had his driver liscense provoked because he has been pulled over so many times and a car full of unpaid traffic tickets. He is a mess.
He became so nervous one night that they had to take him to a mental hospital to give him some sedatives.

Not an easy thing for a young man.

Thanks, John. I had a similar reaction when I saw the study in the US press.

I googled "Clastogenic", then "Clastogenic + Amphetamine" and found a host of studies (one example): http://www.ncbi.nlm.nih.gov/pubmed/3821773

Clastogens, according to Wikipedia, are mutagens which cause chromosome effects including breaks, rearrangements and changes in number.

Wellcome Trust mutated from GlaxoSmithKline, which is the PR partner of the makers of Vyvanse, an amphetamine-based so-called "ADHD" drug. Amphetamines are mutagenic-- specifically the drug induces the kind of deletions and additions described in the study. The vast majority of children diagnosed with ADHD are on amphetamine-related stimulants and this study did not control for drug exposure, as so many don't. One pharma game is to attribute what are actually drug side effects to "genetic origin" as part of the cover up of the epidemic of prescription drug injuries in the US and elsewhere. This is made easier by the fact that many drugs either are mutagenic or induce conditions which virtually mimic what were formerly believed to be soley genetic ailments (Neimann-Picks, MELAS, certain lipid storage defects can be induced by neuroleptics). It's the same tradition as attributing vaccine induced seizures and autism to genetic origin.

Though the final number of subjects with mutations in the ADHD study still appears too low to justify the fanfare, it's slightly higher than in the even more ridiculous recent autism gene study. Chances are, iatrogenic chromosome damage-- i.e., stimulant-induced clastogenesis-- might account for any legitimate findings of deletions or changes in number.

Cases where autistic-behavior can be directly associated with a known genetic disorder, such as Fragile X or Rett's Syndrome, Prader Willi, Angelman Syndrome, and etc. were never more than 10% of the cases. That's BEFORE Rett's & Fragile X were removed from the DSM-IV, now children with those disorders have a MEDICAL, rather than a behavioral, diagnosis.
No one is disagreeing that autism has many potential causes, and that some of those causes may very well be genetic.
However, the results of those "autistic genes" can be very different. While over 90% of identical twins are concordant (both have) an Autism Spectrum Disorder if one twin is diagnosed with Autism, they can have very different variants and differ by over 50 IQ points. One can have full-blown autism, with a complete lack of verbal language, self-injurious behavior, and repetitive behaviors, while the other twin has a mild case of Asperger's. One lives in group homes and is heavily medicted, the other becomes a computer programmer.
Considering that identical twins have exactly the same genetic code in over 99% of cases (there are some unusual cases where they do not, because they "separated" early on when one developed a mutation, such as Down's Syndrome or Fragile X in it's genetic code), obviously there is something more than just raw genetics going on. Identical twins are also the closest thing, when raised together, for having exactly the same environment - however, studies conducted in Denmark showed that the earlier they separated, the less likely they were to be functionally similar. Twins who shared a placenta (a mark of late separation) were more likely to be similar in functioning, even in the absence of any known genetic anomolies.
Additionally, studies of family clusters of autism have shown that many people in the same family, both WITH and WITHOUT autism share the same mutations. Studies on isolated cases have shown a rather random sample of de novo (new) mutations, such as copying errors, when anything could be identified at all.
So, any link between Autism and genetics must necessarily be fragile.

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