Revolutionizing disease classification?

Stanford’s Dr. Atul J. Butte, an assistant professor of medicine, is working with a group of researchers to create a human “diseaseome”—a map that links diseases by the genes they’re associated with.

We’ve talked in class about the pros and cons of “bug” versus “syndrome” approaches to infectious disease classification. These researchers are developing another, parallel approach—classification by a disease’s genetic underpinnings.

Genetic classification has many potential benefits, and research so far has uncovered surprising links between diseases previously thought to be completely separate. Similar sets of genes are active in adults who get heart attacks and in young boys with Duchenne muscular dystrophy. The same genes appear to increase risk of diabetes and prostate cancer.

Genetic links could translate into new treatments: For example, researchers are now thinking of testing heart attack drugs for Duchenne, which currently has no drug treatment.

The genetic approach to classification has its drawbacks, too. Clearly, genes don’t significantly affect all illnesses—and aren’t necessarily the most important factor when they do.

So, although some researchers claim that the “diseaseome” will now allow us to “define human disease precisely, uniquely, and unequivocally,” this doesn’t seem, to me, to be the case. Why should defining a disease by its genetic links be any more “precise” than defining it by its symptoms (for example)? The most useful classification system will depend on the disease, the patient, and the particular context. It can't hurt to have multiple disease-approaches in our arsenal, however, and the "diseaseome" looks like it may lead to some innovative ideas about treatment.

The article can be found here!

Anne