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.
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.