By Dr. James Gartenberg, CBS News Genetic testing is one of the most widely used diagnostic tests available, and it can help identify individuals with potentially deadly genetic diseases.
But what is genetic testing and what can you do to help identify those who may need a test?
Genetic testing can help determine if a person has a genetic disease, so if you have a genetic mutation, genetic testing can identify that mutation, Gartenburg explains.
“We know that people with this genetic mutation have an increased risk of developing certain cancers, some cancers that can be fatal,” he said.
“So genetic testing is a way to know if you are at risk for these diseases.”
Gartengarten said that there is a growing number of genetic testing companies that specialize in identifying these rare mutations.
“Some companies have tested for up to 10 mutations in a person and have identified a few cases of the disease.
They’re also trying to identify other mutations and how they relate to the disease,” Garteson said.
The test company Genetic Counselor is one such company.
Genetic Counselors genetic testing service has found hundreds of cases of rare mutations in more than 2,500 people, according to Gartening.
Gartenhagen also mentioned a company called XGen, which has developed a technology that can detect rare mutations and is now working with more than 200 universities to test for mutations in people who are at high risk of getting a deadly genetic disease.
“They are able to get genetic testing on people who have genetic disease at very low risk, who have not yet been tested, and we are now working on the next step of genetic screening for those people,” Gavartenberg said.
There are also companies that are offering genetic testing to individuals who are concerned about their risk of having a fatal disease.
Gavarter has found that some individuals have a high level of risk of inheriting a genetic problem, and so they may need testing to find out if they are at higher risk.
“For example, people with a mutation in the genes that make up the protein for a particular type of immune response are at increased risk for the disease and at risk of dying from the disease if they have a mutation,” Gabor said.
Gabor added that many people are concerned that their genetic makeup could make them more susceptible to developing certain types of diseases, and that the risk of those diseases can be reduced by testing.
“If a mutation exists in your gene that predisposes you to a disease, we would hope that you would have the same risk of acquiring the disease that you do if you had a mutation that predisposed you to other diseases,” he added.
Gattaca says that he has tested more than 1,000 people, including himself, to see if he is at increased susceptibility to a rare genetic disease that can cause life-threatening cancer.
“I had to take a blood test once, and they sent me home with a letter saying that they didn’t think I had the mutation and I could test for it again,” he explained.
“It is not something that we would ever consider going to a doctor for.”
Gabor says that the genetic testing company Genetic Advisers has provided him with a free test that is designed to test the mutation in people with low risk of cancer.
Gantz said that some of the more common genetic disorders include Down syndrome, cystic fibrosis, multiple sclerosis, Huntington’s disease and Alzheimer’s disease.
“The problem with these diseases is that the disease is hereditary,” he stated.
Gatzas genetic testing tests have found that his condition has not been inherited, and he has also found that he is one in a million people who does not have a known genetic mutation.
“That’s why we need genetic testing,” Gatzagas son said.
Many people who get a genetic test are worried about the test results, but Gantz says that his company is trying to help people avoid the tests.
“People are trying to get as much information out of the test as possible.
We’re not selling genetic testing.
We don’t even use the test to look at the person,” he noted.
“Instead we use it to help determine the risk that someone has of getting cancer, and if you do, you can get tested,” Gantz added.