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    Monday, January 23, 2006

    In the Genes: Film maker Joanna Rudnick has made a documentary about living with the knowledge that she carries a genetic mutation for breast cancer (scroll down to the In the Family paragraph.) One of her subjects considered having prophylactic mastectomies and oophorectomies, but never did. She died of cancer.

    Elsewhere, professional basketball player Eddie Curry was traded to another team when he refused to undergo DNA testing for cardiomyopathy. He probably got the better of the deal - more money ($60 million dollars over 10 years vs. $32 million dollars over 8 years) and his privacy maintained. Not to mention his peace of mind. DNA testing for the risk of diseases isn't exactly an exact science. It only measures risk not inevitability, especially when it comes to cardiomyopathy:

    "There are multiple mutations that have been found that can result in hypertrophic cardiomyopathy," said David Van Wagoner, Ph.D. director of the Basic Cardiac Electrophysiology Laboratory at the Cleveland Clinic Foundation, in an interview. "Depending on which proteins are affected, they have different effects on susceptibility to sudden cardiac death, and some of those in particular that relate to binding of calcium ions are particularly associated with increased risk, such as the troponin mutations."

    Genetics researchers have identified mutations in at least 6 related genes that are important in the development of cardiac myocytes. In approximately 50-60% of families, affected individuals are found to have a mutation in the genes encoding for myosin, troponin T, alpha tropomyosin, cardiac myosin binding protein-C, or the essential and regulatory light chains, according to the Cardiomyopathy Foundation.


    As one of the doctors in the Plain Dealer story put it, DNA testing is closer to looking at a weather map and predicting the weather than looking into a crystal ball and predicting the future.
     

    posted by Sydney on 1/23/2006 06:56:00 AM 0 comments

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