By Erin Hakoda
You may think of genetic conditions as uncommon. Even well-known conditions such as muscular dystrophy or hemophilia affect relatively few people. While individual genetic conditions such as these are rare, genetic conditions affect approximately one out of every 20 individuals. As a result, more than 900,000 individuals within Intermountain’s service area have a genetic condition or underlying genetic risk to develop a significant health condition.
Many of these individuals, and providers to an extent, find it difficult to obtain information about their condition or how to best manage it. Fortunately, Intermountain has a team of genetic specialists, known as genetic counselors, who can support individuals with genetic conditions as well as their healthcare providers.
After participating in the HerediGene: Population Study, Madi Certonio learned she was among those with a genetic condition — a previously unknown BRCA2 gene alteration. Madi met with Jessica Goldsberry, MS, CGC, a genetic counselor who specializes in cancer genetics. Jessica helped Madi understand the function of the BRCA2 gene, how the detected alteration impacted her personal risk for cancer, and proactive steps she could take to lower her risk for cancer and detect signs of cancer earlier.
Through meeting with Jessica, Madi and her family learned how the BRCA2 gene alteration could also impact her family members. She was able to share this valuable information with her family members so they could also seek genetic testing and learn their potential risks. Read Madi’s full story.
Madi’s experience is an example of how Intermountain’s team of genetic counselors educate and support patients daily. Intermountain employs 20 genetic counselors and five genetic counselor assistants who provide consults related to cancer, cardiology, general genetics, and obstetrics throughout each of Intermountain’s three regions.
Intermountain also has two genetic counselors and one genetic counselor assistant who work specifically with laboratory services to support providers in ordering genetic testing. These genetic counselors assist both patients and their healthcare providers in understanding genetic components of disease, facilitating genetic testing, and providing guidance on appropriate medical management.