Dealing With The Wrath of One’s Relatives

Did that title catch your eye? I hope so. Before explaining about the title I want to urge you, my readers to feel free to comment on my entries. I do know that many people from all around the globe read my entries but I rarely receive comments or questions. Even criticisms (mild ones) would be welcome. I also welcome suggestions for future topics.

Now, about the title. My daughter’s daughter (that makes her child my granddaughter) just happens to have celiac disease. My daughter called me to complain that in my last entry (a case about celiac disease), I did not emphasize how important it is to have universal screening for celiac disease. I told her that whether or not to screen for this or that disease is not so simple. It is getting even more complicated daily, as new genetic tests are springing up. For example, is it worth knowing if a guy has an increased risk of developing prostate cancer? That was the question posed on the front page of the New York Times today (Thursday, January 17, 2008). The article was entitled “$300 to Learn Risk of Cancer of the Prostate,” and written by Gina Kolata. In summary, a new study to be published in the New England Journal of Medicine on January 31, 2008 (the study was published on-line on January16, 2008), shows that a new genetic test can identify men who have a particularly high risk of developing prostate cancer. The scientists identified 5 regions in DNA in which variants in the DNA were associated with increased prostate cancer risks- the greater the number of variants, the greater the risk- up to 4.5 fold with 4 or 5 variants (out of 5 possible). With a family history of prostate cancer, the risk in these “high-variant” subjects jumped to about 10-fold. Anyway, the author did a good job in addressing just how complicated it is in deciding who and when to screen for diseases. In this instance, and in a rapidly increasing number of instances, some of the same scientists who discovered the genes are involved in marketing a genetic test to determine risk. This makes it difficult to determine if their recommendations for screening are based solely on sound medical principles, or might be influenced a bit by the profit motive?

Screening for a disorder is generally defined as testing asymptomatic people for a disease or increased risk for a disease. Whether or not to screen for a disorder depends on many factors including costs. For example, if it costs millions of dollars to identify one case of this or that, is it worth it? It also depends on whether the outcome is any different with earlier diagnosis . It also matters whether the screening is to determine if someone has an increased risk of developing this or that vs. whether or not they actually have the disorder. It’s not so simple and I suspect my daughter and I will have long discussions regarding screening- both regarding celiac disease and other diseases.

This is a subject none of us will be able to ignore as more and more tests become available to determine genetic risks for this or that disorder. It’s almost like reading a detective whodunnit and ignoring the entire book except for the last chapter; do we really want to know everything about what our genetic makeup tells us what fate may well have in store for us? Don’t get me wrong. I am a strong proponent of screening and early diagnosis, but it depends on the diagnosis and what the benefit might be by the early diagnosis. Screening for “increased risks” is even trickier.

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