The word “empathy” is key for Elizabeth Janoski, a certified genetic counselor at the University of Minnesota Health Maternal-Fetal Medicine Center.
It is Janoski’s job to assess the risk of genetic conditions in unborn children and inform the expecting parents.
"Nobody wants to give information like that," Janoski said. "Sometimes, just definitively knowing the results of a test reduces a patient’s anxiety; it helps parents let go of the uncertainty and accept their pregnancy—even when the news is difficult.”
Years of working with patients have convinced Janoski that knowledge is power, especially when that knowledge comes from someone who is understanding and supportive, like a genetic counselor. That’s why Janoski and her colleagues also strive to develop deep, meaningful relationships with all of their expecting parents.
“They get the news from someone who knows their circumstances and understands their concerns—and that’s what keeps us all going," Janoski said.
We spoke with Janoski to hear helpful information about genetic testing recommendations, and the preparations families can make if their child is diagnosed with a genetic condition.
What factors do you look for before recommending genetic testing?
Most commonly, we see patients who are 35 and older. At and above that age, women have a higher risk of a pregnancy affected by chromosome abnormalities. Other factors include a family history of a genetic condition, an abnormal screening test or abnormal ultrasound findings.
What sorts of tests are we talking about, and how early can they be conducted?
As early as 10 weeks into a pregnancy, we can draw a blood sample from an expecting mother and identify genetic information that tells us whether this is a pregnancy that is at high risk for Down syndrome, or Trisomy 18, or a variety of other conditions. We are also able to perform chorionic villus sampling, which is conducted in the first trimester. During that test, our maternal-fetal medicine physician takes a sampling of cells from the placenta, which can tell us whether this baby may have a chromosomal condition or other genetic conditions. Additional blood work or ultrasounds can expand our knowledge. If warranted, we can also conduct other invasive tests, such as amniocentesis in the second trimester, on the basis of these early testing results.
How do you work with families whose unborn child has been diagnosed with a genetic condition?
As genetic counselors, our job is to help patients understand what can be expected from a baby with a specific genetic condition or birth defect, and how the patient can achieve the best outcome given the diagnosis. For instance, about half of the babies with Down syndrome will have a heart defect. Based on that information, the primary providers delivering that baby will know they may need to have other specialists present at the time of birth to ensure the health of the baby.
What is unique about our approach to genetic counseling?
Collaboration. I can’t do my job without all of our team. I can take family histories and interpret test results, but we need every piece of the puzzle—we need our scheduling staff, ultrasound techs, nursing staff and our maternal-fetal medicine physicians—to function well and help our families. The team approach allows us to provide comprehensive patient- and family-centered care.