Monday, March 26, 2007

Genetic information--wanted and unwanted

Last weekend's Sunday New York Times had this long article about Katharine Moser, a 23-year-old woman with a family history of Huntington disease. Huntington disease (HD) is a hereditary, adult-onset, progressive neurological disease. It's autosomal dominant, meaning that you need only one abnormal gene (of the pair each of us has, one from mom and one from dad) to develop the disease.

While working in a facility that provides care to HD patients, Ms. Moser learned that a genetic test was available that would tell her whether she has the disease-causing mutation. Deciding that knowing was better than wondering, she chose to be tested. The news was not good.

The article is very interesting and does a good job of explaining how heredity works in the case of HD. Ms. Moser's struggle to incorporate this new knowledge into her life is moving, and her efforts to promote awareness of HD and garner support for research are impressive.

As more genetic tests become available, more of us will face similar choices. If you could find out your risk of developing a debilitating disorder for which no cure is available, would you want to know? Who else would you want to have this information? Friends? Family members? Some but not others? What about prospective employers? Your insurance company?

The question about who should know brings up a piece of Ms. Moser's story that receives what seems to me to be insufficient attention in the NYT article. That is the fact that Ms. Moser's mother had chosen, for herself, not to be tested. She did not want to know whether she would develop the disease that she had seen ravage her family members. She would deal with it if it happened, but she did not want to know ahead of time. Ms. Moser's test result removes any doubt, however: if she has the mutation, so does her mother.

Should this have made a difference to Ms. Moser's choice to "go public" with her story? Should it have affected the journalist's approach? The NYT's decision to publish these details as part of a front-page article, complete with a pedigree (diagram) of the family? If so, how? It not, why not?

Talk amongst yourselves. . .


Emilie Clemmens said...

This isn't exactly what you asked, Sue, but I'm interested in how the power of knowing can influence disease progression.

On one hand, knowing--having the information--may prepare you for battle, both medically and psychologically. In some instances you may be able to use your knowledge to participate in activities to slow the progression of the disease, or to look for clinical trials, or to simply arrange your life differently. There are many more good arguments for knowing.

But on the other hand, what about the negative aspects of knowing? Here we lack the hard science (I think?) to understand the impact of such information on the brain and subsequently on the body. Yet we're aware of consequences such as depression, anxiety, etc., that may, in fact, speed the progression of the disease.

Off the top of my head, I'm thinking that this is something that anyone undergoing genetic tests should be made aware of, but since we likely lack numbers to back it up...does anyone know if these possibilities are discussed in genetic counseling? I confess I didn't read the article.

Sue Trinidad said...

Thanks, Emilie--

Ms. Moser says in the article that she wanted to know so she could plan her life. Before she was tested, she drew up two different sets of life goals: one for if she tested negative and one for if she tested positive. HD is especially tough, because there is no cure and not much in the way of treatment. Since receiving her test result, Ms. Moser has thrown herself into HD research advocacy and outreach efforts.

On the other hand, some people worry that receiving early warning of such a diagnosis could cause an individual to become depressed, to give up on future plans, etc.

It's hard to know how one would react to this kind of news. Would I quit my job and move to Italy? Or would I get in bed and pull the covers over my head? Or both? Genetic counselors do help people think about these questions, and ideally a person meets with a counselor *before* being tested.

But another issue is that genetic counselors are still few and far between, especially outside major urban centers. In a recent study, 44% of PCPs said that genetic consultation was somewhat difficult or difficult to obtain in their area, and another 23% said it was very difficult or impossible to obtain face-to-face consultation. (Acheson LS, Stange KC, Zyzanski S: Clinical genetics issues encountered by family physicians. Genet Med 2005;7:501-508.)