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. . .