Sandy is a 52-year-old married mother of three. Her mother had cancer twice, losing the second battle earlier this year. Her younger brother recently beat cancer. Alzheimer’s runs on one side of her family and colon cancer runs on both sides of her family. Is she rushing out to get genetic testing to determine her own odds of having any of these diseases? “It is not for me at this time”, says Sandy. “I would worry and probably stress myself into being sick or an early grave, about when it was going to hit me if I knew something might be waiting in the wings.” Sandy knows early detection is best and chooses to be proactive in her health care.
Genetic testing involves taking a DNA sample of blood or tissue from a patient and having a scientist scan the DNA for mutated sequences. Cost of testing can range from hundreds of dollars to thousands of dollars, depending on the sizes of the genes and the number of mutations tested. Currently, there are more than 1,000 genetic tests available and some provide only an estimated risk for developing the disorder. For example, you can test for Emphysema (Alpha-1-antitrypsin deficiency), but only get an estimated risk for Alzheimer’s. The problem with genetic testing results is that some people who carry a mutation may never develop the disease. It is believed the mutations may work together with other unknown mutations, or environmental factors to cause the disease. In essence, a “positive” result may never turn into a “positive” result.
The advantage of genetic testing is that it can identify people at high risk for conditions that may be preventable. Aggressive monitoring can turn fatal diseases into treatable ones.
But how will genetic testing affect our children or potential children? Tests can allow families to avoid having children with devastating diseases. Sandy says her 18 year old diabetic daughter has already told her that she does not want to pass her disease on to her children, so she will adopt. She also has a cousin who had twins and wanted to see what the chances were that it would happen again. The test was almost 100% positive that she would have a second set of twins. They stopped with the first set and were very happy. Sandy’s husband also has a strong family history of Alzheimer’s, causing their children to have history from both parents. “Now my kids will have to decide what to do about this knowledge.”
* Names have been changed for privacy