A group of unsung healthcare heroes is helping to translate genetic advances into news patients can use.
These healthcare professionals, called genetic counselors, are part geneticist and part social worker. They provide information and support to people who may be at risk for a variety of inherited conditions, and help them decide whether to undergo testing for genetic mutations. They also counsel families whose members have birth defects or genetic disorders such as Down syndrome, Huntington's disease, cystic fibrosis or muscular dystrophy.
The genetic counseling profession is rapidly expanding and diversifying, according to the National Society of Genetic Counselors. Heightened public awareness of genetic testing, coupled with scientific advances in adult disorders and reproductive technologies, has increased demand for genetic counselors, according to the organization.
Prenatal genetic counselor Catherine Wicklund, MS, counsels pregnant women or those considering pregnancy about the risks of birth defects or other problems. Obstetricians routinely refer women 34 or older to genetic counselors. In addition, some younger women actively seek genetic counseling if a relative has a genetic disorder.
"We talk about the risks and what kinds of testing options are available," says Wicklund, who works in the OB/GYN department at the University of Texas Medical School in Houston. "Genetic counselors are trained to explain complex genetic information in laymen's terms."
If a patient elects testing, Wicklund delivers the test results. If the news is bad, Wicklund explains the patient's options, directs her to resources, and may begin a long-term relationship with her and her family. "It never gets easier telling people that their baby will have a problem," she says. "It's difficult no matter how many times you've done it."
In addition to prenatal tests, genetic tests that can identify a person's predisposition to adult-onset diseases are becoming common, says Steven Keiles, MS, genetic counselor for Kaiser Permanente's West Los Angeles Medical Center. As the menu of genetic tests expands, so does the pool of potential test-takers. "In the past, we could only test for diseases like muscular dystrophy, which isn't common," Keiles says. "Now we're moving to testing for [genetic susceptibility to] common adult diseases like heart disease, cancer and diabetes." Someday, a patient's blood sample could be used to develop a complete genetic profile detailing his susceptibility to all kinds of conditions, he explains.
Making Informed Decisions
Genetic counselors have their work cut out for them as the public becomes increasingly aware of the availability of genetic tests without fully understanding the science behind them. "Genetic susceptibility is a difficult concept to understand," Wicklund says. "Just because you have the genotype for a higher susceptibility to diabetes, for example, doesn't mean you're going to get it."
If there is no known way to prevent or cure a disease, genetic testing may be a bad idea. "Just because the test is available doesn't mean you should do it," Keiles says. "My job is to help people make informed decisions about what's best for them."
Genetic counselors serve as "stop signs on the road," says Christine McElroy, MS, a genetic counselor at Children's Hospital Oakland in California. "Anyone can get their blood drawn and find out they have a change in a gene that predisposes them to cancer or Huntington's disease, but you have to think of the consequences," she says. "We're the brakes that help people think of all the issues involved."
Genetic Counseling Careers
Genetic counselors enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work, and must receive a master's degree and certification in genetic counseling.
Many genetic counselors choose the career because they enjoy both science and working with people "and they don't want to be in a lab," Keiles says.