Rare Cancer Genetics Registry

In the wake of the tremendous progress made in the field of genomics over the past decade or so, research into the genetic underpinnings of the diseases collectively called "cancers" is hot. Genetic flaws -- missing genes, extra genes, transposed genes -- have been implicated in a number of different cancers. Worldwide, researchers are racing to add to this store of knowledge.

Meanwhile, Congress occasionally frets about the fate of victims of so-called "rare" cancers which, collectively, add up to about 25% of cases and deaths. Because of the relatively low number of patients having a given rare cancer, it is difficult to populate clinical trials relating to the disease, and a drug targeting it is difficult to deliver in an economically viable manner. Hence, for example, the Orphan Drug Act, which is meant to short-circuit the ponderous FDA approval process for drugs targeting rare diseases, thus making their production more attractive to the pharmaceutical industry.

A couple of years ago, the National Cancer Institute funded the establishment of the Rare Cancer Genetics Registry, which is meant to be a storehouse of the raw materials necessary for research into the genetics of cancers such as multiple myeloma. The registry contains a database of patient family medical histories, pathology records, and DNA samples. Researchers have the ability to obtain tumor tissue samples, and to contact registrants regarding voluntary participation in studies.

Earlier this year, I received from Johns Hopkins, which is one of the research and recruiting centers of the registry, an invitation to participate. It took me several months to round up all of the required family medical history information (this is how I learned that Grandpa Shaffer's "bone cancer" was really metastatic lung cancer), but a couple of weeks ago I finally sent in the completed questionnaire. Today I sent in my DNA sample, in the form of a tube of saliva.

It is possible, but unlikely, that my entire genome will be sequenced; far more likely that only those portions of it implicated in myeloma will be cracked open. But of course if over time more of it needs to be examined then it will be available for that purpose. In any case, the results of none of this activity will ever be available to me personally. There is no predicting when, if ever, I could be asked to participate in a study, or what such participation might involve in terms of personal commitment. But at least now I'm in there.