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"G" Is for Genes and Genomes
By Margaret R. McLean
"Do I really want to know?" Brad frets as he waits for the genetic counselor. Brad's mother succumbed to Huntington's disease a year ago. Towards the end, he could barely sit in the room where she lay bedridden, unable to talk or eat, twitching uncontrollably. Not long after, Brad's uncle began to drop things and his mood became as unpredictable as El Nino weather. Uncle Pete took the genetic test for Huntington's--he has it too. Brad worries that sometime after his 45th birthday, he will slowly surrender muscle control and eventually his life to Huntington's. Brad knows that there is no cure. "Maybe I really don't want to know my Huntington's test results; at least, then, I'd have some hope." The receptionist's voice invades his thoughts, "Brad Johnson, the counselor will see you now."
Brad is facing a stark reality. Currently, great progress is being made in genetic testing. However, making headway in the treatment of genetic disease is much slower. This genetic test will tell Brad if he carries the gene for Huntington's disease. If Brad's test is positive, little can be done; there is no way to stave off the disease or to impede its progress. He will not know when Huntington's will strike or how quickly those parts of the brain that control movement will fail. All that Brad can find out is whether or not he has the Huntington's gene.
Genes contain the information needed for making our cells and for all the things that they do. The complete set of genes for a human is called the human genome. It is an instruction book of sorts. Each gene is a single instruction. Most of our cells contain a complete set of genetic instructions. Each person's set of genetic directions is unique, a gift from our parents. Brad wants to know if his genome--just like those of his mother and uncle--contains the gene for Huntington's disease.
Posted in August 2006
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