Your mother suffers from a rare type of early-onset Alzheimer's disease.
With this disease, she is in the advanced stages of dementia, although she
is only in her 40s. It's a terrifying and desperate illness. Treatments
are now only being found.
It's possible that you may have this disease. And it's also possible
that you are simply a carrier of the disease. Do you want to know if you will
develop the disease, or if you have the potential to pass this genetic disorder
on to your children?
Genetic tests are now available that can determine whether you will get
the disease. "That particular example is still a rather exotic test," says
Fred Bauder. He is the director of a clinical genetics technology program.
"But our technology is allowing us to determine whether people have a genetic
disorder or whether they may be carriers for a disease."
A carrier of a disease is someone who is healthy and doesn't exhibit
any of the traits of a genetic disorder, but has the potential to pass that
disorder on to their children.
Bauder says that tests for diseases such as breast cancer, leukemia and
Down syndrome are regularly done by genetic technologists. "For example, in
Down syndrome, we do different tests that will find the presence of that extra
chromosome that is the cause of the disease."
Genetic technologists also look for single gene mutations. "In this case,
you look at a piece of the chromosome at the gene level," he says. "By removing
DNA from cells to obtain tests, you can even find out whether someone is a
carrier of a disease."
Bauder says this type of diagnosis is important. It can give the public
extremely valuable information.
"It's a very powerful thing to tell someone whether they're completely
normal for that gene, or whether they're a carrier for that gene," says
Bauder.
"If you're a carrier and you marry someone who is also a carrier,
the chance of the children being a carrier for the gene jumps to 50 percent.
And the chance of the child having the disease is 25 percent."
Cytogenetics is currently used for treatment and diagnosis in several large
cancer centers in North America. "It has become in demand as a standard of
care for diagnosis and treatment in cancer," says Vicki Hopwood. She is a
director of cytogenetics at a cancer center in Houston.
Cytogenetics can test for cancers such as leukemia and lymphomas. In addition,
women with breast cancer can find out the likelihood that their cancer will
spread to other parts of their body.
"It's an exciting area to work in that can help a great
deal of people because of the multiple approaches we can take with the testing,"
says Hopwood.
Michelle Hess is a genetic technologist in Omaha. She says it's a
rewarding career. "You have to be interested in minute detail and have patience,"
she says.
She enjoys the fact that the job is always changing. "You may be working
on the same type of test, but the patient is different or the scenario is
different," she says. "The sky's the limit for the types of abnormalities
you can find. It's like a great mystery hunt."
She also adds that because the field is changing so rapidly, genetic technologists
always have the opportunity to keep learning.
As the population gets older, and as women with careers choose to have
children later in life, cytogenetic testing is becoming an important tool.
Testing can help a women determine if her reproductive organs and her fetus
are healthy.
"There's a recommended screen for women over 35 that can detect many
things like neural tube defects," says Hopwood.
Cytogenetics and molecular cytogenetics were first developed 30 years ago.
"It's exciting to work in a science that started in the '70s," says
Hopwood. "Like other new disciplines, it's always changing."
She says that unlike nursing or other health-care practices that have set
standards, the way a cytogeneticist does her work may completely change over
a five-year span. "This really is a field for the young," says Hopwood. "It
needs young people coming in who have the vision to change along with the
science."
Hopwood says there are very few limits on where this field could go in
the future. "If people are thinking of careers like in sci-fi fantasies, this
is one that has potential to look very different in the future."