Real-Life Decision Making
You're a genetic technologist working in molecular technology. Currently, you're studying a specimen sample taken from Sharon to see if she might be a carrier of cystic fibrosis. Her spouse, Reggie, is already known to be a carrier of cystic fibrosis.
Cystic fibrosis is a genetic disease of the exocrine glands that often leads to excessive mucus production. This can affect major internal organs such as the lungs, pancreas and gastrointestinal tract.
Reggie and Sharon are anxious to find out if she might be a carrier. If she is, the chance of their child also being a carrier of the disease will be 50 percent. And the chance of their child having the disease will be 25 percent.
To do the test, you have to look at the chromosomes at a single gene level to see if there are any mutations. This type of testing requires exact procedures. "You will need to run some DNA tests for a particular gene that has controls," says Fred Bauder. He is a genetic technologist.
You run through the entire testing procedure. On first glance, it appears that Sharon isn't a carrier for the disease. You're pleased that this result has come in, and that she will be able to meet with a genetic counselor as soon as possible to learn the news.
But wait! Is there some other material contaminating your slide? Is it extraneous DNA or does it have something to do with your specimen? You think about running a second check today to make sure your results are 100 percent correct. But you have a meeting with the pathologist in the afternoon to discuss another case.
You're almost 100 percent sure of your results. Most likely, some foreign material that has nothing to do with your test has turned up on the slide.
What do you do?