Genetic Testing: An Overview

Should I get genetic testing for my health? On the surface, the answer to that question may seem simple. But Lior Borovik, MS, certified genetic counselor at Sanford Health, says it’s much more complex than it appears.

“Genetic testing is a personal choice,” Borovik says. “I want to help our patients gain a better understanding of the entire process, so they can make an informed decision.”

Genetic tests can help in various ways including:

  • Diagnosing disease or conditions (in unborn babies, in children, or adults)
  • Determining the severity of a disease
  • Helping physicians decide on the best medicine or treatment
  • Identifying gene changes responsible for an already diagnosed disease
  • Identifying gene changes that may increase risk of developing a disease
  • Identifying gene changes that could be passed on to children
  • Screening newborns for certain treatable conditions

Sanford Health is no stranger to using genetics in certain patient populations, such as breast cancer, pediatrics or prenatal screening. However, as new discoveries unfold at Sanford Imagenetics, more and more patients will have the option to receive genetic testing.

“Genetic tests can be very hard to understand – even by medical professionals,” Borovik explains. “I’ve talked with patients who’ve had genetic testing at their physician’s request, but the results were not clearly explained. That’s why genetic counselors are so helpful. We can explain what the results mean to our patients and their families.”

One factor to consider before pursuing genetic testing is its impact on the extended family. Patients receive valuable information about their DNA, their genetic blueprint. Parts of this blueprint are shared from one generation to another within a family. The results of genetic tests could have major implications for blood relatives of the patient who is tested.

There are also emotional and financial considerations for those who undergo genetic testing. The cost of genetic testing can vary based on insurance coverage and the technology used. Borovik and other genetic counselors can help patients understand how their out-of-pocket expense is determined. But more importantly, genetic counselors help address the range of emotions patients may feel before and after testing.

“Learning that you or someone in your family has – or is at risk for a disease – can be scary,” Borovik says. “While the information can be useful, patients can sometimes feel guilty, angry, anxious or depressed when they find out their results. Genetic counselors have the training and experience to help during these times.”