Thoughts about science and medicine

Paul Grobstein's picture

A very interesting and important article in the NYTimes magazine this Sunday: "The Medical Detectives: What's Wrong with Summer Stiers?" Focusing on one patient enrolled in a new National Institutes of Health "Undiagnosed Diseases Program" the article raises hopes and tugs heart strings, ending with Stiers recognition that "she couldn't offer any real information about her disease until she was dead and donated her body to science" but

"She even dares to hope ... that the scientists might learn something that will point them to a way to ease her own psychic and physical pain."

I have enormous sympathy and respect for both Summer Stiers and Dr. William Gahl, the director of the new NIH program, but, reading between the lines of the article, there is something seriously wrong here, something that raises important questions not only about Stiers' hopes, present and future, and about Gahl's agenda and that of the NIH, but also about how the expectations we all have for science, in a medical context and more generally.

As the article deliberately and appropriately points out,  Gahl "has been at the NIH for his entire career ... and ... trained as a fellow in the new field of medical genetics, back when scientists felt they were on the threshhold of the era of gene therapy, when all you would need to do to cure a disease would be to find its gene, figure out what the gene did and imitate it."  But, as the article also points out "The ensuing years have shown how difficult it is to bridge the gap between the gene and the cure ... Despite the accumulating disappointments and false starts in genomic medicine ... Gahl has never give up searching for the genetic bull's eye."  

The important point here, which the article neglects to point out, is that Gahl doesn't represent "science" but rather science of a particular kind, the kind that is looking for, "despite accumulating disappointment and false starts ... the genetic bull's eye." Other scientists, myself included, have long since recognized that there is no grounds whatsoever for the presumption of any simple relation between genes and symptoms, to say nothing of cures.  There are many fewer genes than there are symptoms, and symptoms are demonstrably a complex function of genes, of personal experiences, and of how particular people relate to their genetic constitutions.  To put it differently, "science" justifies neither the preoccupation of Gahl and the NIH nor any hopes that Summer Stiers has, either in the near term or the future.

Does it make sense to assemble teams of specialists to evaluate and try to understand "undiagnosed diseases"?  Yes, of course.  The limitations of the "organ by organ" approach are obvious to all, and both Stiers and the NIH should be congratulated for acknlowledging that.  But does it make sense to admit patients for special treatment in the category of "undiagnosed diseases" if and only if they seem likely to advance the cause of discovering new diseases in which there is a direct relationship between genes and symptoms and cures?  I think not.

There are large numbers of patients with symptoms that are difficult to account for./cure in terms of genes, those with, for example, fibromyalgia and chronic fatigue syndrome.  Why, other than to validate a particular "scientific" perspective, are we privileging those for whom there might be some remaining possibillity of establishing a one gene/one symptom/one cure relationship?  Isn't it perhaps time to recognize that most human suffering reflects complex relations among genes, between genes and environments, and between all of that and individua perspectives/inclinations?

As a scientist, I'd be happier if a new program to deal with "undiagnosed diseases" was aimed at finding ways to make sense of the complexity of human experience, rather than at identifying the special cases in which that complexity is unusually simplified.  And I'd like to think that such a program would be able to learn from not only Stiers' post-mortem body but also from "the psychic and physical pain" she experiences before she dies. Perhaps then we could actually see "the whole package" and avoid the sense of conflict between an a "professional,  slightly desperate pursuit" and the wish to help people in need?   

 

 

Comments

Paul Grobstein's picture

Disease: beyond genes

"Genes certainly play some role in disease and suffering, but ...."

Its encouraging to know that at least some other people are also aware of, or becoming aware, of this.  See Genes show limited value in predicting disease in a recent New York Times.

jrlewis's picture

I find the

I find the medical/scientific ethic portrayed in the NY Times article problematic.  It strikes me that Dr. Gahl is a living example of the stereotypical scientist.  The man in a white coat, locked away in the lab, devoting his life to the proof of a scientific theory.  In this case, the promise of genetic medicine.  The article is cautiously hopeful that Gahl's "eureka moment" will come. His theory will validated.  This is doing science for the sake of a theory, not the data or observations.  I wonder what might happen if the emphasis was shifted towards the observations... What new summaries of observations might be made?  

Doug Ward's picture

I'm Summer's Dad ...

While the experience at NIH had both very good and very unpleasant aspects, I can and do appreciate Dr. Gahl's stated focal point of discovering which segment(s) of the human genome result in the particular cluster of symptoms seen in my daughter's case. Any research which furthers humanity's fundamental understanding of it's biological restrictions and opportunities will eventually fit with other bits of knowledge and become a useful tool in the future for others who may suffer from a similar set of symptoms.

We were quite aware while at NIH that Summer was simply another test subject, and it seemed to us that her creature comforts and needs often came in a far second to the quest for knowledge.

Paul Grobstein's picture

For Summer's dad, and others ...

Thanks for stopping by, and sharing your thoughts.  Yes, of course, "Any research which furthers humanity's fundamental understanding of it's biological restrictions and opportunities will eventually fit with other bits of knowledge and become a useful tool in the future."

What concerned me, and still concerns me, is not that "Summer was simply another test subject" nor that "her creature comforts and needs often came in a far second to the quest for knowledge."  I admire your/Summer's courage and understanding about the value of basic research and the importance of contributing to it, and sympathize with the burdens one may have to accept in doing so.  

The issue, for me, has to do with the motivation for this particular research project and, associated with that, an uncertainty about whether the unpleasantness Summer and you accepted might actually have yielded knowledge over and above that which it did.  Genes certainly play some role in disease and suffering, but many other things do as well. I'd be happier if Gahl clearly understood that, and so collected observations not only insofar as they might contribute to elucidating the genetic contributions to Summer's problems, but to understanding possible contributions of other factors as well.    

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