Early next week, I’ll be part of an ethics panel at a Cold Spring Harbor Laboratory conference on the future of personal genomics. Because I’ve written a lot about autism and schizophrenia, the organizers have asked me to talk about what I think is the current and future appetite for genetic testing of psychiatric diseases.
I have a general idea about this “appetite”, but I really want some numbers to solidify my thinking. I wrote a (very short!) survey on the topic, and am asking bloggers affiliated with advocacy organizations, or those interested in personal genomics generally, to direct their readers to my questions.
Of course, I want my readers to take the survey, too! And pass it on to friends. The more responses, the better. (Oh, and if you’re an autism advocate, take this modified survey instead.)
I will share the survey results with you after next week, after the conference. Hopefully I’ll get a few hundred responses and we’ll be able to catch some meaningful trends.
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September 9, 2009 at 9:11 am
RAJ
Cold Spring Harbor was one of the leading authorities in the Eugenics Movement that took place in the early 20th century. They have a history of eugenics on their website where Cold Spring Harbor apologized for their role in the Eugenics Movement.
James D. Watson in 2007 was forced to resign from Cold Spring Harbor after his comments, published in the Times of London, that overall people of African descent were not as intelligent as people of European descent.
He later resigned from Cold Spring Harbor, apologized for his comments, but his comments offer insight into the beliefs of Cold Spring Harbor and its faculty and its ‘bad genes’ cause ‘bad behavior’.
Even Professor Sir Michael Rutter, the retired editor of the Journal of Autism and Developmental Disorders, has correctly referred to some molecular geneticists and child psychiatrists as ‘genetic evangelists’, a label that would apply to virtually the entire research staff of Cold Spring Harbor.
How personal genomics can effect reproductive decisions can be seen in a widely distributed paper by Hokonarson et al (2009)
http://www.webmd.com/brain/autism/news/20090428/gene-variants-hold-new-clues-to-autism
Hakonarson claims that up to 15% of autism cases can be eliminated by removing this ‘autism’ gene. What Hakonarnon fails to state is that this common genetic mutation is found in 60% of people of European descent.
Since the chances of the faculty of Cold Spring Harbor, who are of Eurpean ancestry are more likely than not to carry this ‘autism’ gene mutation, should their own personal genomics play a role in their own families reproductive decisions if they are carriers of this genetic mutation that causes 15% of autism cases?
Craig Ventnor who had his own personal genome decoded found the following:
“Biotechnology Information human reference assembly revealed more than 4.1 million DNA variants, encompassing 12.3 Mb. These variants (of which 1,288,319 were novel) included 3,213,401 single nucleotide polymorphisms (SNPs), 53,823 block substitutions (2–206 bp), 292,102 heterozygous insertion/deletion events (indels)(1–571 bp), 559,473 homozygous indels (1–82,711 bp), 90 inversions, as well as numerous segmental duplications and copy number variation regions”.
Ventnor also stated that given the discovery of just how complex the human genome is the best indicator for disease risk is simply a family history.
Until the rather primitive measures of the human genome can offer better insights into acual risk and what role the environment plays in gene-environmnet interactions that underlie virtually all human disease, Cold Spring Harbor’s placing reproductive decisions on the family, rather than society as they proposed during the Eugenics Movement era cannot be supported.
September 9, 2009 at 2:22 pm
BBS
I’m sure you’ve already thought of this, but just make sure that you are aware of the selection bias present in this survey method. The results from the survey you’ve posted definitely cannot be generalized to general population.
September 9, 2009 at 2:33 pm
virginiahughes
Indeed, BBS, that will be a huge issue. I’m no scientist or statistician. I think that although they can’t be extrapolated to the general population, the numbers will tell us something interesting about the opinions of the genetics/psychiatric disorder advocacy blogospheres…
September 9, 2009 at 4:53 pm
Kate
I’d like to see some accurate testing for treatment purposes. Having kids with these disorders, I had to go through years and years of testing and ineffective treatment (especially for my schizophrenic son) before an accurate diagnosis (and appropriate treatment) could be found. My very unresponsive toddler girl was sent to a neurologist, who assumed she was deaf until testing proved otherwise.
Having these tests will be another part of the diagnostic procedure.
Is there a risk where it comes to eugenics? Certainly if you’re talking about genetic testing there may be parents who feel that the risk outweighs the choice to have children. But even with our current knowledge of risk we’re still having children with these disorders. I don’t see a lot of selection going on.
Is it any riskier to say “genetic tests show that you have a 15% risk of having a schizophrenic child” than to say “statistics show that you have a 15% chance of having a schizophrenic child”? IMHO, no.
September 9, 2009 at 7:32 pm
travc
“Interpretation of results” is a bit too vague IMO.
If people properly interpret results, then all other potential problems are greatly reduced or even eliminated.
September 9, 2009 at 7:43 pm
Thomas
It appears to me that the value of your work somewhat depends on what health care in America looks like a year from now. I for one sincerely hope the overall picture looks much brighter and middle class friendly than it generally does today.
Thomas Krawford
September 9, 2009 at 8:17 pm
daedalus2u
I am a researcher working on autism and have very strong feelings (based on a thorough understanding of the science) that prenatal tests for autism will fail.
Because of the economics of a false negative (likely $ millions in the US), all true negatives, true positives and false positives must bear that cost. Only the false positives can be arbitrarily increased and the economics of the situation will force that to happen. How many normal fetus will people be willing to abort to avoid the birth of a single infant with autism? The economics will dictate hundreds or thousands. If the cost allocated per non-false negative test is $1000, there have to be a million of them for each false negative.
I think that autism is not caused by genetics but rather by epigenetic programming in utero due to low NO. I discuss that a lot on my blog and will send you an email. I see it as the tail end of the adaptive phenotype characterized by Asperger’s which is the tool making and tool using phenotype.
http://daedalus2u.blogspot.com/2008/10/theory-of-mind-vs-theory-of-reality.html
September 10, 2009 at 10:24 am
qbsmd
I think the concerns question is not well thought out. Discrimination is only even an issue if privacy isn’t safeguarded, so it is a subset of privacy. Interpretation of results and accuracy are similarly subsets of informed consent.