Helping Patients Understand the ACTGs of Genetic Test Results

Scientists finished sequencing the human genome in 2003, the same year that Amy Swanson (B.S., Genetics, Cell Biology and Development ’01) began working as a genetic counselor. The trove of data that resulted from the Human Genome Project offers nearly limitless potential to develop genetic tests. Swanson is at the vanguard of what is likely to be a boom in demand for healthcare workers trained to interpret the results and guide patients through the emotional and ethical gauntlet that sometimes follows.

So far, there are only about 30 genetic counseling programs in the United States and less than 3,000 counselors in the field. “The small numbers have to do with the number of clinical sites available for student rotations,” says Swanson, who completed her graduate degree in the Molecular, Cellular, Developmental Biology and Genetics with an emphasis on genetic counseling at the University of Minnesota. “Because there are so few genetic counselors to begin with you have to have counselors who are working and willing to take on a student.” Some programs admit as few as five students a year.

As an undergraduate, Swanson had considered medical school like many of her College of Biological Sciences peers, but decided that committing to so many years of training was not right for her. So she went back to the drawing board. Swanson knew she loved genetics. “It’s science and it’s logical and it makes sense and it’s fascinating,” she says. But after spending time in a research lab as an undergraduate she also knew she wanted to work with people. Genetic counseling offered the best of both worlds. Swanson says, “I get a lot more patient contact than any physician I know. I end up feeling that I am useful to my patients because I can really get to know them.”

Genetic counselors can specialize in a variety of areas from pediatrics to cancer. Swanson counsels patients with high-risk pregnancies at a clinic associated with the University of California, San Francisco. She moved to the Bay Area two years ago after several years at Foedert Hospital and the Medical College of Wisconsin in Milwaukee where she set up a genetic counseling program. In her role as a genetic counselor, Swanson looks at a variety of factors from the age of the mother to family history for genetic red flags. “I am fascinated by pregnancy. … It’s amazing to me. I loved learning about reproduction in school—embryology and developmental biology—and then taking it a step further and looking at the ways it doesn’t work out.”

Swanson guides patients through every step of the genetic testing process from deciding whether to get a specific test to interpreting the results to explaining the science behind the results to the patient—then supporting them as they decide what to do with the information. “In the past, it was always ‘doctor knows best.’ Now it’s more about presenting the options and risks. Sometimes none are ideal, but it’s about what works best for the patient given the parameters.”

Sometimes the results aren’t clear-cut. “Most genetic tests are not 100 percent so the question becomes ‘what do you do with that information?’” she says. Swanson helps patients make sense of the language of recessive genes and mutations. She says that really serious problems crop up in only about a quarter of her cases, but when they do it can be heart-wrenching. In fact, being the harbinger of bad news almost prevented Swanson from going into genetic counseling.

“It seemed depressing,” she recalls. “I didn’t want to tell people bad news.” She expressed her concerns to an academic mentor in her graduate program who told her to consider the fact that the patient will go through the situation whether Swanson is there to help or not. Swanson recalls her saying: “Someone needs to be there and it can be you or someone who doesn’t care.” It’s advice that continues to resonate. “I can’t tell you how many patients have come back and said you have helped us get through one of the most difficult times in our lives.”

— Stephanie Xenos