Precision medicine: What will it mean for autism?

Very recently President Obama hosted a reception at the White House to proclaim a medical initiative that would presumably “bring us closer to curing diseases like cancer and diabetes”. The model intends to customize healthcare by using diagnostic testing that will tell us which treatment is best according to the genetic content of the patient. Although precision medicine is geared primarily against cancer, the program has serious implications for autism.

Tom Insel the director of the NIMH, in a hurry to jump on the bandwagon, has stated that, ”the NIMH has supported research on inherited genetic risk for several years; a new initiative on another class of mutations, somatic mosaicism (the term for mutations that develop after fertilization), will launch this year. But more likely, precision medicine for mental disorders will not come from a single genomic glitch. Rather, like many other areas of medicine, many genes each contribute only a small amount of vulnerability as part of an overall risk profile that includes life experiences, neurodevelopment, and social and cultural factors” (see http://1.usa.gov/16pKxjK ). There are 2 things to say from this expression by Dr. Tom Insel. First, precision medicine is not an innovation brought about by the White House but one propelled by both the NIH and NIMH. Second, and more importantly, it will concern itself primarily with molecular biology and genetic studies leaving other possible biomarkers by the waysise.

The efforts to build precision medicine have been purposely building for many years. The slow process was meant to gather the necessary momentum; to get the approval of the White House and the general public. Although details about the plan are still forthcoming it is expected that both NIH and NIMH will divert several hundred millions out of their budget in order to sponsor this initiative. The exorbitant amount of money is needed in order to screen several hundred thousand individuals from the general population. As in the human genome project most players in this enterprise appear to have been preselected. In the meanwhile problems related to how will data be standardized and other questions regarding informed consent still remain unaccounted.

It is easy to realize that under this initiative the added expense of sophisticated tests will increase substantially our health care costs for a difference in outcome that may be difficult to predict or sustain. This could be seen as a meager exploitation of human suffering, providing financial misery rather than mental satisfaction to the affected individual. Indeed, the only certain winner in this proposition will be the different institutions that deliver health care service, not the patient. Considering the caps in health care provisions by different institutions, the added expenses may curtail other needed interventions.

The new initiative will lead to “modern” classification systems, new regulations for clinical trials, and less participation for the individual patient in their own health care management. Indeed, the new sophisticated tests will be difficult to understand by the individual who will have to rely on regulatory guidelines of institutions. These guidelines would be expressly implemented to increase the health operating costs and improve the margin of profit of the health care provider. Also please bear in mind that if the DSM 5 brought a plethora of complaints about Asperger’s individuals losing their identity, a much more radical change should be expected with precision medicine. There won’t be an existential side to suffering, no social or cultural construct; rather, expect the dehumanization of the individual categorized by severity rankings of genetic abnormalities.

For autism, the move to precision medicine will mean an equal shift in funding towards genetic studies. Thus far hundred of million of dollars have been wasted in genetic studies proving the lack of Mendelian inheritance of the condition. Autism is a complex or multifactorial condition. This means that although there is a genetic influence there is also a very significant environmental influence. This funding shift will take money away from more meritorious research including those dealing with environmental factors, postmortem studies, and those studying biomarkers that are not genetic.

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On a final note, my son-in-law was invited to the White House for this proclamation. Some of the pictures appear at the following link: http://bit.ly/1C8dOZ4 . I am happy that the work that he and my daughter have done on behalf of orphan/rare conditions is being recognized. I think he was looking forwards to a fist bump with the president but got a handshake instead 🙂 Another of his handshakes (see pictures) is with Francis Collins Director of the NIH and past leader of the Human Genome Project. Just to say that the whole evening, in no subtle way, was meant to sell precision medicine as a genomics project.

13 responses to “Precision medicine: What will it mean for autism?

  1. Where is the prevention research from this initiative? They can’t be found. They need to be reminded that prevention has been introduced. Thalidomide embryopathy + autism has been prevented by the effective ban of Thalidomide in pregnacy and the introduction of an effective rubella vaccine has reduced congenital rubella syndrome + autism to virtually non-existance. Michael Rutter has a series of relevant comments on gene x environment posted on You Tube last year by Kings College.

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    • According to the amount of money needed, precision medicine will be the first initiative for funding considerations and others will take a secondary role. Given the complaints about the exorbitant bias of the federal government in funding genetic research, this can be seen as a further subterfuge to continue funding the same projects that have taken us nowhere.

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  2. Dr. Casanova,you tend to write in generalities.As if you believe autism is a single disorder with a single cause.Research is showing this is clearly not the case.It isn’t “autism”,it’s “the autisms”.Many different disorders,with many different causes,but having the same similar presentations.I do hope you recognize this.

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    • Than you for the comment Roger. I do believe there may be one basic mechanism with multiple inciting factors. The same is the heterochronic (occurring at an inappropriate time) division of germinal cells during brain development. I wrote several blogs before keeping this in mind as I explained that this is where many of the known neuropathology for syndromic autism converge. If you want I can send you an article that I wrote in this regard (my email is m0casa02@louisville.edu). Maybe we can discuss the same. Thanks.

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  3. Dear Dr. Casanova, does the heterochronic principle will also apply to those children who apparently developed well until the ages of 18 months and after?
    Regards
    Jorge

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    • You should go and read the latest blog about Dravet syndrome. Just to say the answer is a definite yes. I may have to write an article about focal cortical dysplasias. The more we know, the more information they seem to offer for autism. Thanks for your interest.

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    • I certainly like his blog. Along with his twitter account I think he has little time for anything else. I do not know of another person writing on a daily basis, good quality material.

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  4. Just saw this- brilliant! It is like everyone has lost their minds over “personalized medicine.” It is absurd. It would be great if autism kids could just see a GI specialist without waiting 6 months and if doctors or if we could fund some decent immunology intervention science. The geneticists are ignoring the fact that the most basic needs should be addressed before the gross over promising and over spending on more genetic research.

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    • Completely agree. The government is trying to balance the budgets of the bigger academic institutions while at the same time increasing the billing for health providers. This will translate in higher costs to the patients without a reassurance of better services. Thank you for your comment.

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    • I just had my genetic ancestry done at 23 and me for only $100 (this is over 600,00 SNPs sites). I can analyze the results through a database for medical/health implications.

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      • To add to the article, it found that over 80% of autistic individuals share a common 5000 epigenetic patterns. If am correct (I checked up on it) they did that after 6 years of searching. To this I say: Well of course! Why weren’t you looking there instead of trying to sequence all estimated 50-80 million autistic individuals in the world. Genetic research is useful to validate findings elsewhere and helping syndromic cases. Otherwise it should be secondary to everything else (I am not saying to throw it all away but just reduce it to a sector of an entire project than making it the project itself)

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