By Katie Wright
How ironic that a day after the announcement of the autism genome breakthrough the New York Times had a front-page story entitled, “A Decade Later, Human Genome Project Yields Few New Clues.” In 2000 3 billion, that’s right billion, dollars was invested into this project. The public was promised genome research would “revolutionize the diagnosis, prevention and treatment of most diseases.” Since then scientists have discovered many “disease causing mutations…but with most diseases the findings have explained only a small part of the risk.” Like 3% of the risk? Scientists, unlike families, have been pleased with this research because it has produced fascinating new technology and new information on human genetics and biology. Back to the “Big Man, Big Machine” theory, the NYT writes that the genome “has inspired many powerful new technique such chip sequencing… and complex protein machinery!”
However, taxpayers were not paying 3 billion dollars in hopes of basic science discoveries and cool new technology, we were told this money was a direct investment in cures for diseases like ALS, cancer, Alzheimer’s and possibly autism. The genome research was supposed to “generate treatments…After 10 years of efforts, geneticists are almost back to square one in knowing where to look for roots of common diseases.” Genetic variants for heart disease, “turned out to have no value in forecasting the disease.” The genome study looked a huge sample of 19,000 women and discovered that family history was a better predictor of heart disease than genes. The autism project had just over a 1,000 subjects. So is this what we have to look forward to- more money, more inconclusive answers, no treatment or prevention breakthroughs?
Indeed autism families are frequently promised that once variants are identified drugs can be developed to combat the symptoms. However, it isn’t that simple, the NYT states, “the roots of genetic diseases may eventually be understood, but at this point there is no guarantee that treatments will follow. If each common disease is caused by a host of rare variants, it may not be susceptible to drugs.” Great, now what? There are probably 100 different variants of autism and so far we have uncovered 3% of one.
Autism genome researchers have admitted that their projects have been incredibly costly but promise the research will get cheaper as technology advances and will yield useful results once they are able to examine the genes of 30,000 people with ASD. Good grief, 30,0000 people! It took them 10 years to study and recruit 1,000 people! Is it just me, or does that sound insane? It reminds me of compulsive gamblers, “I’ll win it all back if you just lend more money!” “I know I am going to win, trust me, I just need more time and more money!” The money dedicated to autism research is still so small and needs so great, can we afford such a gamble with our limited resources while 100s of treatment and environmental grants go unfunded? The autism genome project is like a Dad with 6 kids going out to buy a family car and coming home with a Lamborghini. Yes, the Lamborghini is a beautiful piece of machinery but can he afford it and is it the right car for his family?
The NYT comment pages on the recent genome reporting were extensive. Wow, I thought autism parents were frustrated and angry at the rate of scientific progress. Many of the comments read like they were written by family members of those suffering with Parkinson’s, Alzheimer’s, ALS…Like us they are stymied by the myopic focus on genes and the minimal investment in environmental research.
“Most cancers are not genetic. Instead they (are a result of) cell inflammation and damage to the system, resulting from toxins. Much like poison oak or poison ivy, the damage spreads. There is a triggering system…many cancers, Alzheimer’s, Parkinson’s disease are, rather than a disease, an injury, which inflammation has spread and grown because of incessant damage…(over) exposure to pesticides is often identical to symptoms of Alzheimer and Parkinson’s.”
One man noted that Alzheimer’s was identified in 1906 but we still have not figured out the cause and the cure.
“Alzheimer’s and Parkinson’s are not etymologically genetic in essence but triggered later in life by unknown catalytic immune (response), metabolic and hormonal mechanisms that climax into the onset of the disease. How is such a process amenable to a prenatal genetic basis?”
“The genome project operates under the notion that there is still once basic cause of disease…genetics, when it is becoming more and more evident that disease is caused by a confluence of factors: genes, environment and stressors.”
“Barring initial defects at the gene level (like Fragile X), epigenetic factors- the influence of all environmental factors, exerts the greatest influence on gene expression.”
We have developed better systems of early detection for both cancer and autism and there are some very helpful drugs that treat the symptoms of some cancers. However, all cancers are rising, especially childhood cancer. Autism isn’t just rising; it is blowing the roof off the house. Spending the majority our research money on genes and brain imaging is not getting us to where we need to be. We need to even the playing fields and immediately prioritize research on meaningful environmental triggers (not parental age). For the sake of our kids we cannot be content with a bar set so low. Finding 3% of “autism genes” every 10 years isn’t good enough. The exponentially increasing rate of autism far exceeds the pace of scientific progress! If we continue like this soon everyone will either have cancer or autism, then what?
Katie Wright is a Contributing Editor for Age of Autism.