Jumping from genetic research to prenatal testing

“Caring for autistic people is hard… Do I hope that early interventions can be devised to wipe the

Photo by Flickr user themickeyed

human race clean of autism? No, I do not.”

–Charlotte Moore, mother of two autistic sons, The Guardian

Charlotte Moore was responding to the biggest news in autism research in decades: The Autism Genome Project’s study of rare genetic variants in just under one thousand autistic individuals– the largest ever study of the genetics of autism.

The study followed 996 people with autism spectrum disorders (ASD) and 1,287 people without the condition. The researchers looked at a specific type of DNA:  rare ‘copy number variants’ (CNVs). These missing or duplicated pieces of DNA are found in or between genes. The study reported that people with ASD had 20% more rare CNVs within genes.

The study, published online at Nature last Wednesday, revealed new genetic clues to the condition and could be used to develop a diagnostic test.

Although it could take years to develop a prenatal test for autism, the possibility has created hope and fear for some parents. As a mother of two young sons, Charlotte Moore says she can see the benefits of such a test, but is concerned about how this research may represent the first stepping stone toward  a world without autistic individuals.

This concern seems oddly familiar. In fact, there was a similar reaction to research on the genetics of autism published in 2009 by Simon Baron Cohen, a prominent scientist in the field. Baron-Cohen blamed the media for distorting his research results.

And now here it is again.

There is a persistent fear that a prenatal test for autism will come out of research into the genetics of the condition. This couldn’t be more apparent than in the The Globe and Mail’s story.

Making the leap from this important piece of research to prenatal testing is a leap made too hastily. Research into the genetics of autism is still in its infancy. This alone is reason enough to widen the gap between fundamental research and its real-world implications. The question of which conditions should be tested for prenatally and which should not is an important debate, but stories that emphasis this aspect of the research are missing the point.

The point is that we now understand just a little bit more about the genetic complexity of autism. It may not be an easy point  to grasp, so here are a few links to stories that I thought did a good job of explaining what the research is about and why it matters.

My top choices for related stories:

Myriad genes reveal autism’s diversity

Large-Scale Autism Study Reveals Disorder’s Genetic Complexity

Big Autism Study Reveals New Genetic Clues, but Also Baffling Complexity

Rare genetic variants linked to autism

The genetics of autism– The Guardian story tracker

The Autism Files: Vaccines and Drugs

I recently watched a PBS Frontline documentary, The Autism Wars.

Photo by Flickr user ghinson

I learned that one in three Americans are concerned about the rare yet serious side effects of vaccines.

I also learned that the debate over whether vaccines cause autism is still alive and thriving.

In fact, despite numerous scientific papers supporting the claim that there is no causal relationship between autism and vaccines or autism and thimerosal, the scientific establishment appears to be loosing the battle.

In many respects, it has come down to which army has built the most vociferous PR campaign.

The Autism Wars is worth watching for a few important reasons. If you’re unfamiliar with the debate, it clearly outlines the major arguments held by both sides. If you’re well-versed in this issue, it’s an engaging perspective of the current state of affairs south of the border. I would be very curious to know what Canadians think of the issue.

But most importantly, the documentary highlighted the power of new media to ‘overwhelm’ the debate. The disturbing video of Desiree Jennings, a cheerleader displaying unusual symptoms attributed to the seasonal flu vaccine, is but one example.

A vocal critic of the autism-vaccine causal relationship is Ben Goldacre pictured below.

Photo by Flickr user vbloke

He is a medical doctor and award-winning journalist who writes a blog, Bad Science.

It is the goldstandard for ‘unpicking dodgy scientific claims made by scaremongering journalists, dodgy government reports, evil pharmaceutical corporations, PR companies and quacks’.

His stories (see MMR-Never Mind the Facts) represent a small but considerable attempt by the scientific community to use the media to spread their message.

Although this debate has not yet closed its doors, the New Scientist reported an interesting new development in the world of autism research. Drug companies like Seaside Therapeutics are developing drugs that will treat the symptoms of autism. The drugs are intended to alter the brain chemistry of people with autism, changing their social behaviour in the process. It’s an interesting concept.

But would the parents who believe a vaccine gave their child autism give that same child a drug that will change their brain and thus change their personality?

Stay tuned. There will be more to come on the Autism Files.